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These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign familial neonatal seizures - Genetic Testing Registry: Benign familial neonatal seizures 1 - Genetic Testing Registry: Benign familial neonatal seizures 2 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for benign familial neonatal seizures ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for benign familial neonatal seizures ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign familial neonatal seizures - Genetic Testing Registry: Benign familial neonatal seizures 1 - Genetic Testing Registry: Benign familial neonatal seizures 2 - MedlinePlus Encyclopedia: EEG These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve only the lower limbs, while the complex types also involve other areas of the body; additional features can include changes in vision, changes in intellectual functioning, difficulty walking, and disturbances in nerve function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported. In addition to spasticity and weakness, which typically affect both legs equally, people with spastic paraplegia type 3A can also experience progressive muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an abnormal curvature of the spine (scoliosis), loss of sensation in the feet (peripheral neuropathy), or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia type 3A usually appear before the age of 10; the average age of onset is 4 years. In some affected individuals the condition slowly worsens over time, sometimes leading to a need for walking support.

What is (are) spastic paraplegia type 3A ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) spastic paraplegia type 3A ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve only the lower limbs, while the complex types also involve other areas of the body; additional features can include changes in vision, changes in intellectual functioning, difficulty walking, and disturbances in nerve function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported. In addition to spasticity and weakness, which typically affect both legs equally, people with spastic paraplegia type 3A can also experience progressive muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an abnormal curvature of the spine (scoliosis), loss of sensation in the feet (peripheral neuropathy), or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia type 3A usually appear before the age of 10; the average age of onset is 4 years. In some affected individuals the condition slowly worsens over time, sometimes leading to a need for walking support.<|eot_id|>

Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.

How many people are affected by spastic paraplegia type 3A ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by spastic paraplegia type 3A ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.<|eot_id|>

Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. Atlastin-1 is involved in the growth of specialized extensions of neurons, called axons, which transmit nerve impulses that signal muscle movement. The protein also likely plays a role in the normal functioning of multiple structures within neurons and in distributing materials within these cells. ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.

What are the genetic changes related to spastic paraplegia type 3A ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to spastic paraplegia type 3A ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. Atlastin-1 is involved in the growth of specialized extensions of neurons, called axons, which transmit nerve impulses that signal muscle movement. The protein also likely plays a role in the normal functioning of multiple structures within neurons and in distributing materials within these cells. ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.<|eot_id|>

Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent.

Is spastic paraplegia type 3A inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is spastic paraplegia type 3A inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent.<|eot_id|>

These resources address the diagnosis or management of spastic paraplegia type 3A: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 3A - Genetic Testing Registry: Spastic paraplegia 3 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for spastic paraplegia type 3A ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for spastic paraplegia type 3A ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of spastic paraplegia type 3A: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 3A - Genetic Testing Registry: Spastic paraplegia 3 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills. People with HSAN IE also develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35. HSAN IE is characterized by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Sensations in the feet and legs are particularly affected in people with HSAN IE. Gradual loss of sensation in the feet (peripheral neuropathy), which usually begins in adolescence or early adulthood, can lead to difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to open sores and infections. If these complications are severe, amputation of the affected areas may be required. HSAN IE is also characterized by a loss of the ability to sweat (sudomotor function), especially on the hands and feet. Sweating is a function of the autonomic nervous system, which also controls involuntary body functions such as heart rate, digestion, and breathing. These other autonomic functions are unaffected in people with HSAN IE. The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even within the same family.

What is (are) hereditary sensory and autonomic neuropathy type IE ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) hereditary sensory and autonomic neuropathy type IE ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with thinking skills. People with HSAN IE also develop hearing loss that is caused by abnormalities in the inner ear (sensorineural hearing loss). The hearing loss gets worse over time and usually progresses to moderate or severe deafness between the ages of 20 and 35. HSAN IE is characterized by impaired function of nerve cells called sensory neurons, which transmit information about sensations such as pain, temperature, and touch. Sensations in the feet and legs are particularly affected in people with HSAN IE. Gradual loss of sensation in the feet (peripheral neuropathy), which usually begins in adolescence or early adulthood, can lead to difficulty walking. Affected individuals may not be aware of injuries to their feet, which can lead to open sores and infections. If these complications are severe, amputation of the affected areas may be required. HSAN IE is also characterized by a loss of the ability to sweat (sudomotor function), especially on the hands and feet. Sweating is a function of the autonomic nervous system, which also controls involuntary body functions such as heart rate, digestion, and breathing. These other autonomic functions are unaffected in people with HSAN IE. The severity of the signs and symptoms of HSAN IE and their age of onset are variable, even within the same family.<|eot_id|>

HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world.

How many people are affected by hereditary sensory and autonomic neuropathy type IE ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by hereditary sensory and autonomic neuropathy type IE ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world.<|eot_id|>

HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines. DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to migrate where needed and connect with each other, and neuron survival. DNMT1 gene mutations that cause HSAN IE reduce or eliminate the enzyme's methylation function, resulting in abnormalities in the maintenance of the neurons that make up the nervous system. However, it is not known how the mutations cause the specific signs and symptoms of HSAN IE.

What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines. DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to migrate where needed and connect with each other, and neuron survival. DNMT1 gene mutations that cause HSAN IE reduce or eliminate the enzyme's methylation function, resulting in abnormalities in the maintenance of the neurons that make up the nervous system. However, it is not known how the mutations cause the specific signs and symptoms of HSAN IE.<|eot_id|>

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Is hereditary sensory and autonomic neuropathy type IE inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is hereditary sensory and autonomic neuropathy type IE inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.<|eot_id|>

These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: Center for Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for hereditary sensory and autonomic neuropathy type IE ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for hereditary sensory and autonomic neuropathy type IE ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: Center for Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life. Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.

What is (are) multiple pterygium syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) multiple pterygium syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life. Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.<|eot_id|>

The prevalence of multiple pterygium syndrome is unknown.

How many people are affected by multiple pterygium syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by multiple pterygium syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The prevalence of multiple pterygium syndrome is unknown.<|eot_id|>

Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits. The subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the subunit is replaced by another subunit to form adult AChR protein. The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth. CHRNG gene mutations result in an impaired or missing subunit. The severity of the CHRNG gene mutation influences the severity of the condition. Typically, mutations that prevent the production of any subunit will result in the lethal type, while mutations that allow the production of some subunit will lead to the Escobar type. Without a functional subunit, the fetal AChR protein cannot be assembled or properly placed in the muscle cell membrane. As a result, the fetal AChR protein cannot function and the communication between nerve cells and muscle cells in the developing fetus is impaired. A lack of signaling between nerve and muscle cells leads to akinesia and pterygium before birth, and may result in many of the other signs and symptoms of multiple pterygium syndrome. Mutations in other genes, most providing instructions for other AChR protein subunits, have been found to cause multiple pterygium syndrome. Changes in these genes can cause both the lethal and Escobar types of this condition, although they account for only a small number of cases. Some people with multiple pterygium syndrome do not have an identified mutation in any of the known genes associated with this condition. The cause of the disease in these individuals is unknown.

What are the genetic changes related to multiple pterygium syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to multiple pterygium syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and is critical for signaling between nerve and muscle cells. Signaling between these cells is necessary for movement. The AChR protein consists of five subunits. The subunit is found only in the fetal AChR protein. At about the thirty-third week of pregnancy, the subunit is replaced by another subunit to form adult AChR protein. The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth. CHRNG gene mutations result in an impaired or missing subunit. The severity of the CHRNG gene mutation influences the severity of the condition. Typically, mutations that prevent the production of any subunit will result in the lethal type, while mutations that allow the production of some subunit will lead to the Escobar type. Without a functional subunit, the fetal AChR protein cannot be assembled or properly placed in the muscle cell membrane. As a result, the fetal AChR protein cannot function and the communication between nerve cells and muscle cells in the developing fetus is impaired. A lack of signaling between nerve and muscle cells leads to akinesia and pterygium before birth, and may result in many of the other signs and symptoms of multiple pterygium syndrome. Mutations in other genes, most providing instructions for other AChR protein subunits, have been found to cause multiple pterygium syndrome. Changes in these genes can cause both the lethal and Escobar types of this condition, although they account for only a small number of cases. Some people with multiple pterygium syndrome do not have an identified mutation in any of the known genes associated with this condition. The cause of the disease in these individuals is unknown.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Is multiple pterygium syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is multiple pterygium syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.<|eot_id|>

These resources address the diagnosis or management of multiple pterygium syndrome: - Genetic Testing Registry: Lethal multiple pterygium syndrome - Genetic Testing Registry: Multiple pterygium syndrome Escobar type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for multiple pterygium syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for multiple pterygium syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of multiple pterygium syndrome: - Genetic Testing Registry: Lethal multiple pterygium syndrome - Genetic Testing Registry: Multiple pterygium syndrome Escobar type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life. Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures. Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. As the disease progresses, affected people may develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. Because of the serious medical problems associated with Fukuyama congenital muscular dystrophy, most people with the disorder live only into late childhood or adolescence.

What is (are) Fukuyama congenital muscular dystrophy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Fukuyama congenital muscular dystrophy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life. Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures. Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. As the disease progresses, affected people may develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. Because of the serious medical problems associated with Fukuyama congenital muscular dystrophy, most people with the disorder live only into late childhood or adolescence.<|eot_id|>

Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants.

How many people are affected by Fukuyama congenital muscular dystrophy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Fukuyama congenital muscular dystrophy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants.<|eot_id|>

Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha ()-dystroglycan. This protein anchors cells to the lattice of proteins and other molecules (the extracellular matrix) that surrounds them. In skeletal muscles, -dystroglycan helps stabilize and protect muscle fibers. In the brain, this protein helps direct the movement (migration) of nerve cells (neurons) during early development. The most common mutation in the FKTN gene reduces the amount of fukutin produced within cells. A shortage of fukutin likely prevents the normal modification of -dystroglycan, which disrupts that protein's normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness and atrophy of the skeletal muscles. Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. Less is known about the effects of FKTN mutations in other parts of the body. Because Fukuyama congenital muscular dystrophy involves a malfunction of -dystroglycan, this condition is described as a dystroglycanopathy.

What are the genetic changes related to Fukuyama congenital muscular dystrophy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Fukuyama congenital muscular dystrophy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha ()-dystroglycan. This protein anchors cells to the lattice of proteins and other molecules (the extracellular matrix) that surrounds them. In skeletal muscles, -dystroglycan helps stabilize and protect muscle fibers. In the brain, this protein helps direct the movement (migration) of nerve cells (neurons) during early development. The most common mutation in the FKTN gene reduces the amount of fukutin produced within cells. A shortage of fukutin likely prevents the normal modification of -dystroglycan, which disrupts that protein's normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness and atrophy of the skeletal muscles. Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. Less is known about the effects of FKTN mutations in other parts of the body. Because Fukuyama congenital muscular dystrophy involves a malfunction of -dystroglycan, this condition is described as a dystroglycanopathy.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Is Fukuyama congenital muscular dystrophy inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Fukuyama congenital muscular dystrophy inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.<|eot_id|>

These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registry: Fukuyama congenital muscular dystrophy - MedlinePlus Encyclopedia: Aspiration Pneumonia - MedlinePlus Encyclopedia: Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Fukuyama congenital muscular dystrophy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Fukuyama congenital muscular dystrophy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registry: Fukuyama congenital muscular dystrophy - MedlinePlus Encyclopedia: Aspiration Pneumonia - MedlinePlus Encyclopedia: Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder. The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break. The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.

What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder. The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break. The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.<|eot_id|>

PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries.

How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries.<|eot_id|>

Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear. Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.

What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear. Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.<|eot_id|>

These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - MedlinePlus Encyclopedia: Dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - MedlinePlus Encyclopedia: Dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm. Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely among affected individuals. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.

What is (are) Aarskog-Scott syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Aarskog-Scott syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm. Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely among affected individuals. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.<|eot_id|>

Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed.

How many people are affected by Aarskog-Scott syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Aarskog-Scott syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed.<|eot_id|>

Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, which causes the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome. Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.

What are the genetic changes related to Aarskog-Scott syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Aarskog-Scott syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, which causes the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome. Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.<|eot_id|>

Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Is Aarskog-Scott syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Aarskog-Scott syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.<|eot_id|>

These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Aarskog-Scott syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Aarskog-Scott syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.

What is (are) Li-Fraumeni syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Li-Fraumeni syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.<|eot_id|>

The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.

How many people are affected by Li-Fraumeni syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Li-Fraumeni syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.<|eot_id|>

The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).

What are the genetic changes related to Li-Fraumeni syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Li-Fraumeni syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).<|eot_id|>

Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.

Is Li-Fraumeni syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Li-Fraumeni syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.<|eot_id|>

These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Li-Fraumeni syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Li-Fraumeni syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke. The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure. Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.

What is (are) phosphoglycerate kinase deficiency ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) phosphoglycerate kinase deficiency ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke. The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure. Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.<|eot_id|>

Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.

How many people are affected by phosphoglycerate kinase deficiency ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by phosphoglycerate kinase deficiency ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature.<|eot_id|>

Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.

What are the genetic changes related to phosphoglycerate kinase deficiency ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to phosphoglycerate kinase deficiency ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.<|eot_id|>

This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Is phosphoglycerate kinase deficiency inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is phosphoglycerate kinase deficiency inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.<|eot_id|>

These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kinase - Genetic Testing Registry: Phosphoglycerate kinase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for phosphoglycerate kinase deficiency ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for phosphoglycerate kinase deficiency ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kinase - Genetic Testing Registry: Phosphoglycerate kinase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening. Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome. Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia.

What is (are) X-linked thrombocytopenia ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) X-linked thrombocytopenia ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening. Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome. Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia.<|eot_id|>

The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females.

How many people are affected by X-linked thrombocytopenia ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by X-linked thrombocytopenia ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females.<|eot_id|>

Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse). WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.

What are the genetic changes related to X-linked thrombocytopenia ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to X-linked thrombocytopenia ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse). WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.<|eot_id|>

This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Is X-linked thrombocytopenia inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is X-linked thrombocytopenia inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.<|eot_id|>

These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for X-linked thrombocytopenia ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for X-linked thrombocytopenia ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.

What is (are) Legg-Calv-Perthes disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Legg-Calv-Perthes disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.<|eot_id|>

The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15.

How many people are affected by Legg-Calv-Perthes disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Legg-Calv-Perthes disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15.<|eot_id|>

Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. COL2A1 gene mutations involved in Legg-Calv-Perthes disease lead to production of an altered protein; collagen that contains this protein may be less stable than normal. Researchers speculate that the breakdown of bone characteristic of Legg-Calv-Perthes disease is caused by impaired blood flow to the femoral head, which leads to death of the bone tissue (osteonecrosis); however it is unclear how abnormal type II collagen is involved in this process or why the hips are specifically affected.

What are the genetic changes related to Legg-Calv-Perthes disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Legg-Calv-Perthes disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. COL2A1 gene mutations involved in Legg-Calv-Perthes disease lead to production of an altered protein; collagen that contains this protein may be less stable than normal. Researchers speculate that the breakdown of bone characteristic of Legg-Calv-Perthes disease is caused by impaired blood flow to the femoral head, which leads to death of the bone tissue (osteonecrosis); however it is unclear how abnormal type II collagen is involved in this process or why the hips are specifically affected.<|eot_id|>

When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disorder in their family. These cases are referred to as sporadic. In other cases, the condition is passed through families. In these cases, referred to as familial, an affected person inherits the mutation from one affected parent.

Is Legg-Calv-Perthes disease inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Legg-Calv-Perthes disease inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disorder in their family. These cases are referred to as sporadic. In other cases, the condition is passed through families. In these cases, referred to as familial, an affected person inherits the mutation from one affected parent.<|eot_id|>

These resources address the diagnosis or management of Legg-Calv-Perthes disease: - National Osteonecrosis Foundation - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Legg-Calv-Perthes disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Legg-Calv-Perthes disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Legg-Calv-Perthes disease: - National Osteonecrosis Foundation - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.

What is (are) homocystinuria ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) homocystinuria ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.<|eot_id|>

The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.

How many people are affected by homocystinuria ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by homocystinuria ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.<|eot_id|>

Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria. Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. As a result of this pathway, other amino acids, including methionine, are produced. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and toxic byproducts substances build up in the blood. Some of the excess homocysteine is excreted in urine. Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body. Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria.

What are the genetic changes related to homocystinuria ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to homocystinuria ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria. Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. As a result of this pathway, other amino acids, including methionine, are produced. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and toxic byproducts substances build up in the blood. Some of the excess homocysteine is excreted in urine. Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body. Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Although people who carry one mutated copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS mutation to have shortages (deficiencies) of vitamin B12 and folic acid.

Is homocystinuria inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is homocystinuria inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Although people who carry one mutated copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS mutation to have shortages (deficiencies) of vitamin B12 and folic acid.<|eot_id|>

These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Genetic Testing Registry: Homocysteinemia due to MTHFR deficiency - Genetic Testing Registry: Homocystinuria due to CBS deficiency - Genetic Testing Registry: Homocystinuria, cblD type, variant 1 - Genetic Testing Registry: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type - Genetic Testing Registry: METHYLCOBALAMIN DEFICIENCY, cblG TYPE - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD - Genetic Testing Registry: Methylmalonic aciduria, cblD type, variant 2 - MedlinePlus Encyclopedia: Homocystinuria - New England Consortium of Metabolic Programs These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for homocystinuria ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for homocystinuria ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Genetic Testing Registry: Homocysteinemia due to MTHFR deficiency - Genetic Testing Registry: Homocystinuria due to CBS deficiency - Genetic Testing Registry: Homocystinuria, cblD type, variant 1 - Genetic Testing Registry: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type - Genetic Testing Registry: METHYLCOBALAMIN DEFICIENCY, cblG TYPE - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD - Genetic Testing Registry: Methylmalonic aciduria, cblD type, variant 2 - MedlinePlus Encyclopedia: Homocystinuria - New England Consortium of Metabolic Programs These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin. Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures. Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).

What is (are) Baraitser-Winter syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Baraitser-Winter syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin. Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures. Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).<|eot_id|>

Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.

How many people are affected by Baraitser-Winter syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Baraitser-Winter syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.<|eot_id|>

Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.

What are the genetic changes related to Baraitser-Winter syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Baraitser-Winter syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.<|eot_id|>

This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.

Is Baraitser-Winter syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Baraitser-Winter syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.<|eot_id|>

These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Baraitser-Winter syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Baraitser-Winter syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

What is (are) cri-du-chat syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) cri-du-chat syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.<|eot_id|>

Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.

How many people are affected by cri-du-chat syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by cri-du-chat syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.<|eot_id|>

Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.

What are the genetic changes related to cri-du-chat syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to cri-du-chat syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.<|eot_id|>

Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.

Is cri-du-chat syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is cri-du-chat syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.<|eot_id|>

These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for cri-du-chat syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for cri-du-chat syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep. The signs and symptoms of restless legs syndrome range from mild to severe; people with mild cases may experience symptoms a few times a month, while those with more severe cases may have symptoms every night. In severe cases, the uncomfortable feelings can affect the arms or other parts of the body in addition to the legs. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. When these movements occur during sleep, they are called periodic limb movements of sleep (PLMS); when they occur while a person is awake, they are called periodic limb movements of wakefulness (PLMW). It is unclear whether PLMS and PLMW are features of restless legs syndrome itself or represent similar, but separate, conditions. Restless legs syndrome and PLMS can affect the quality and amount of sleep. As a result of these conditions, affected individuals may have difficulty concentrating during the day, and some develop mood swings, depression, or other health problems. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45, and sometimes as early as childhood. The signs and symptoms of this form usually worsen slowly with time. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly.

What is (are) restless legs syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) restless legs syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep. The signs and symptoms of restless legs syndrome range from mild to severe; people with mild cases may experience symptoms a few times a month, while those with more severe cases may have symptoms every night. In severe cases, the uncomfortable feelings can affect the arms or other parts of the body in addition to the legs. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. When these movements occur during sleep, they are called periodic limb movements of sleep (PLMS); when they occur while a person is awake, they are called periodic limb movements of wakefulness (PLMW). It is unclear whether PLMS and PLMW are features of restless legs syndrome itself or represent similar, but separate, conditions. Restless legs syndrome and PLMS can affect the quality and amount of sleep. As a result of these conditions, affected individuals may have difficulty concentrating during the day, and some develop mood swings, depression, or other health problems. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45, and sometimes as early as childhood. The signs and symptoms of this form usually worsen slowly with time. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly.<|eot_id|>

Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age.

How many people are affected by restless legs syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by restless legs syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age.<|eot_id|>

Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including the production of a chemical messenger (neurotransmitter) called dopamine. Among its many functions, dopamine triggers signals within the nervous system that help the brain control physical movement. Researchers believe that malfunction of the dopamine signaling system may underlie the abnormal movements in people with restless legs syndrome. However, it is unclear how iron deficiency is related to abnormal dopamine signaling, or how these changes in the brain lead to the particular signs and symptoms of the condition. Variations in several genes have been studied as risk factors for restless legs syndrome. Most of these genes are thought to be involved in the development of nerve cells (neurons) before birth. It is unclear whether any of the genes play roles in brain iron levels or in dopamine signaling. Variations in known genes appear to account for only a small percentage of the risk of developing restless legs syndrome. Changes in other genes, which have not been identified, probably also contribute to this complex disorder. Researchers suspect that the early-onset form of restless legs syndrome is more likely than the late-onset form to have a genetic basis. Nongenetic factors are also thought to play a role in restless legs syndrome. For example, several other disorders increase the risk of developing the condition. These include a life-threatening failure of kidney function called end-stage renal disease, diabetes mellitus, multiple sclerosis, rheumatoid arthritis, and Parkinson disease. People with low iron levels associated with a shortage of red blood cells (anemia) and women who are pregnant are also more likely to develop restless legs syndrome. In these cases, the condition usually improves or goes away when iron levels increase or after the woman gives birth. Restless legs syndrome can be triggered by medications, including certain drugs used to treat nausea, depression and other mental health disorders, colds and allergies, heart problems, and high blood pressure. Use of caffeine, nicotine, or alcohol can also trigger restless legs syndrome or make the signs and symptoms worse. In these cases, the condition usually improves or goes away once a person stops using these medications or substances.

What are the genetic changes related to restless legs syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to restless legs syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including the production of a chemical messenger (neurotransmitter) called dopamine. Among its many functions, dopamine triggers signals within the nervous system that help the brain control physical movement. Researchers believe that malfunction of the dopamine signaling system may underlie the abnormal movements in people with restless legs syndrome. However, it is unclear how iron deficiency is related to abnormal dopamine signaling, or how these changes in the brain lead to the particular signs and symptoms of the condition. Variations in several genes have been studied as risk factors for restless legs syndrome. Most of these genes are thought to be involved in the development of nerve cells (neurons) before birth. It is unclear whether any of the genes play roles in brain iron levels or in dopamine signaling. Variations in known genes appear to account for only a small percentage of the risk of developing restless legs syndrome. Changes in other genes, which have not been identified, probably also contribute to this complex disorder. Researchers suspect that the early-onset form of restless legs syndrome is more likely than the late-onset form to have a genetic basis. Nongenetic factors are also thought to play a role in restless legs syndrome. For example, several other disorders increase the risk of developing the condition. These include a life-threatening failure of kidney function called end-stage renal disease, diabetes mellitus, multiple sclerosis, rheumatoid arthritis, and Parkinson disease. People with low iron levels associated with a shortage of red blood cells (anemia) and women who are pregnant are also more likely to develop restless legs syndrome. In these cases, the condition usually improves or goes away when iron levels increase or after the woman gives birth. Restless legs syndrome can be triggered by medications, including certain drugs used to treat nausea, depression and other mental health disorders, colds and allergies, heart problems, and high blood pressure. Use of caffeine, nicotine, or alcohol can also trigger restless legs syndrome or make the signs and symptoms worse. In these cases, the condition usually improves or goes away once a person stops using these medications or substances.<|eot_id|>

The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form. In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified.

Is restless legs syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is restless legs syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form. In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified.<|eot_id|>

These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Diagnosed? - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Treated? - Restless Leg Syndrome Foundation: Diagnosis - Restless Leg Syndrome Foundation: Treatment Options These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for restless legs syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for restless legs syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Diagnosed? - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Treated? - Restless Leg Syndrome Foundation: Diagnosis - Restless Leg Syndrome Foundation: Treatment Options These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.

What is (are) ophthalmo-acromelic syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) ophthalmo-acromelic syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.<|eot_id|>

The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.

How many people are affected by ophthalmo-acromelic syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by ophthalmo-acromelic syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.<|eot_id|>

Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts. SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition. Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.

What are the genetic changes related to ophthalmo-acromelic syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to ophthalmo-acromelic syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts. SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition. Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Is ophthalmo-acromelic syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is ophthalmo-acromelic syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.<|eot_id|>

These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for ophthalmo-acromelic syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for ophthalmo-acromelic syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles. Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body. Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer. People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.

What is (are) Maffucci syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Maffucci syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles. Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body. Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer. People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.<|eot_id|>

Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.

How many people are affected by Maffucci syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Maffucci syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.<|eot_id|>

In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms of the disorder is not well understood. Mutations in other genes may also account for some cases of Maffucci syndrome.

What are the genetic changes related to Maffucci syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Maffucci syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms of the disorder is not well understood. Mutations in other genes may also account for some cases of Maffucci syndrome.<|eot_id|>

Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.

Is Maffucci syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Maffucci syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.<|eot_id|>

These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Maffucci syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Maffucci syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected. Most affected individuals have a shortage of red blood cells (anemia), which can cause pale skin (pallor), weakness, and fatigue. Some of these individuals also have low numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized under the microscope, bone marrow cells from affected individuals may appear abnormal. Often, early blood cells (hematopoietic precursors) have multiple fluid-filled pockets called vacuoles. In addition, red blood cells in the bone marrow can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts. In people with Pearson marrow-pancreas syndrome, the pancreas does not work as well as usual. The pancreas produces and releases enzymes that aid in the digestion of fats and proteins. Reduced function of this organ can lead to high levels of fats in the liver (liver steatosis). The pancreas also releases insulin, which helps maintain correct blood sugar levels. A small number of individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition characterized by abnormally high blood sugar levels that can be caused by a shortage of insulin. In addition, affected individuals may have scarring (fibrosis) in the pancreas. People with Pearson marrow-pancreas syndrome have a reduced ability to absorb nutrients from the diet (malabsorption), and most affected infants have an inability to grow and gain weight at the expected rate (failure to thrive). Another common occurrence in people with this condition is buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, liver and kidney problems can develop in people with this condition. About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems.

What is (are) Pearson marrow-pancreas syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Pearson marrow-pancreas syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected. Most affected individuals have a shortage of red blood cells (anemia), which can cause pale skin (pallor), weakness, and fatigue. Some of these individuals also have low numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized under the microscope, bone marrow cells from affected individuals may appear abnormal. Often, early blood cells (hematopoietic precursors) have multiple fluid-filled pockets called vacuoles. In addition, red blood cells in the bone marrow can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts. In people with Pearson marrow-pancreas syndrome, the pancreas does not work as well as usual. The pancreas produces and releases enzymes that aid in the digestion of fats and proteins. Reduced function of this organ can lead to high levels of fats in the liver (liver steatosis). The pancreas also releases insulin, which helps maintain correct blood sugar levels. A small number of individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition characterized by abnormally high blood sugar levels that can be caused by a shortage of insulin. In addition, affected individuals may have scarring (fibrosis) in the pancreas. People with Pearson marrow-pancreas syndrome have a reduced ability to absorb nutrients from the diet (malabsorption), and most affected infants have an inability to grow and gain weight at the expected rate (failure to thrive). Another common occurrence in people with this condition is buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, liver and kidney problems can develop in people with this condition. About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems.<|eot_id|>

Pearson marrow-pancreas syndrome is a rare condition; its prevalence is unknown.

How many people are affected by Pearson marrow-pancreas syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Pearson marrow-pancreas syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Pearson marrow-pancreas syndrome is a rare condition; its prevalence is unknown.<|eot_id|>

Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. Pearson marrow-pancreas syndrome is caused by single, large deletions of mtDNA, which can range from 1,000 to 10,000 DNA building blocks (nucleotides). The most common deletion, which occurs in about 20 percent of affected individuals, removes 4,997 nucleotides. The mtDNA deletions involved in Pearson marrow-pancreas syndrome result in the loss of genes that provide instructions for proteins involved in oxidative phosphorylation. These deletions impair oxidative phosphorylation and decrease the energy available to cells. It is not clear how loss of mtDNA leads to the specific signs and symptoms of Pearson marrow-pancreas syndrome, although the features of the condition are likely related to a lack of cellular energy.

What are the genetic changes related to Pearson marrow-pancreas syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Pearson marrow-pancreas syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. Pearson marrow-pancreas syndrome is caused by single, large deletions of mtDNA, which can range from 1,000 to 10,000 DNA building blocks (nucleotides). The most common deletion, which occurs in about 20 percent of affected individuals, removes 4,997 nucleotides. The mtDNA deletions involved in Pearson marrow-pancreas syndrome result in the loss of genes that provide instructions for proteins involved in oxidative phosphorylation. These deletions impair oxidative phosphorylation and decrease the energy available to cells. It is not clear how loss of mtDNA leads to the specific signs and symptoms of Pearson marrow-pancreas syndrome, although the features of the condition are likely related to a lack of cellular energy.<|eot_id|>

Pearson marrow-pancreas syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development.

Is Pearson marrow-pancreas syndrome inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Pearson marrow-pancreas syndrome inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Pearson marrow-pancreas syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development.<|eot_id|>

These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Pearson marrow-pancreas syndrome ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Pearson marrow-pancreas syndrome ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

What is (are) Gaucher disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Gaucher disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).<|eot_id|>

Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent.

How many people are affected by Gaucher disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Gaucher disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent.<|eot_id|>

Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.

What are the genetic changes related to Gaucher disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Gaucher disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Is Gaucher disease inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Gaucher disease inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.<|eot_id|>

These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Gaucher disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Gaucher disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs. Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.

What is (are) Meige disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) Meige disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs. Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.<|eot_id|>

The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males.

How many people are affected by Meige disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by Meige disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males.<|eot_id|>

The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively found to cause the signs and symptoms of Meige disease.

What are the genetic changes related to Meige disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to Meige disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively found to cause the signs and symptoms of Meige disease.<|eot_id|>

Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected family member. In most cases, an affected person has one parent with the condition. When the condition occurs in only one person in a family, the condition is described as Meige-like disease.

Is Meige disease inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is Meige disease inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected family member. In most cases, an affected person has one parent with the condition. When the condition occurs in only one person in a family, the condition is described as Meige-like disease.<|eot_id|>

These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

What are the treatments for Meige disease ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the treatments for Meige disease ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care<|eot_id|>

Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.

What is (are) congenital insensitivity to pain with anhidrosis ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What is (are) congenital insensitivity to pain with anhidrosis ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.<|eot_id|>

CIPA is a rare condition; however, the prevalence is unknown.

How many people are affected by congenital insensitivity to pain with anhidrosis ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: How many people are affected by congenital insensitivity to pain with anhidrosis ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> CIPA is a rare condition; however, the prevalence is unknown.<|eot_id|>

Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that transmit pain, temperature, and touch sensations (sensory neurons). When the NGF protein binds to the NTRK1 receptor, signals are transmitted inside the cell that tell the cell to grow and divide, and that help it survive. Mutations in the NTRK1 gene lead to a protein that cannot transmit signals. Without the proper signaling, neurons die by a process of self-destruction called apoptosis. Loss of sensory neurons leads to the inability to feel pain in people with CIPA. In addition, people with CIPA lose the nerves leading to their sweat glands, which causes the anhidrosis seen in affected individuals.

What are the genetic changes related to congenital insensitivity to pain with anhidrosis ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: What are the genetic changes related to congenital insensitivity to pain with anhidrosis ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that transmit pain, temperature, and touch sensations (sensory neurons). When the NGF protein binds to the NTRK1 receptor, signals are transmitted inside the cell that tell the cell to grow and divide, and that help it survive. Mutations in the NTRK1 gene lead to a protein that cannot transmit signals. Without the proper signaling, neurons die by a process of self-destruction called apoptosis. Loss of sensory neurons leads to the inability to feel pain in people with CIPA. In addition, people with CIPA lose the nerves leading to their sweat glands, which causes the anhidrosis seen in affected individuals.<|eot_id|>

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Is congenital insensitivity to pain with anhidrosis inherited ?

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<|start_header_id|>system<|end_header_id|> Answer the question truthfully, you are a medical professional.<|eot_id|><|start_header_id|>user<|end_header_id|> This is the question: Is congenital insensitivity to pain with anhidrosis inherited ?<|eot_id|><|start_header_id|>assistant<|end_header_id|> This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.<|eot_id|>