sarnsrun/medquad huggingface dataset:
Topic: mucolipidosis III gamma
Question: What are the genetic changes related to mucolipidosis III gamma ?
Answer: Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making one part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often "tagged" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome.  Mutations in the GNPTG gene that cause mucolipidosis III gamma result in reduced activity of GlcNAc-1-phosphotransferase. These mutations disrupt the tagging of digestive enzymes with M6P, which prevents many enzymes from reaching the lysosomes. Digestive enzymes that do not receive the M6P tag end up outside the cell, where they have increased activity. The shortage of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III gamma, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis III gamma are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell.
Source: GHR
Topic: mucolipidosis III gamma
Question: Is mucolipidosis III gamma inherited ?
Answer: 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.
Source: GHR
Topic: mucolipidosis III gamma
Question: What are the treatments for mucolipidosis III gamma ?
Answer: These resources address the diagnosis or management of mucolipidosis III gamma:  - Gene Review: Gene Review: Mucolipidosis III Gamma  - Genetic Testing Registry: Mucolipidosis III Gamma  - MedlinePlus Encyclopedia: Cloudy Cornea  - MedlinePlus Encyclopedia: Heart Valves   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
Source: GHR
Topic: Hutchinson-Gilford progeria syndrome
Question: What is (are) Hutchinson-Gilford progeria syndrome ?
Answer: Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.  People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.
Source: GHR
Topic: Hutchinson-Gilford progeria syndrome
Question: How many people are affected by Hutchinson-Gilford progeria syndrome ?
Answer: This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.
Source: GHR
Topic: Hutchinson-Gilford progeria syndrome
Question: What are the genetic changes related to Hutchinson-Gilford progeria syndrome ?
Answer: Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.  The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
Source: GHR
Topic: Hutchinson-Gilford progeria syndrome
Question: Is Hutchinson-Gilford progeria syndrome inherited ?
Answer: Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.
Source: GHR
Topic: Hutchinson-Gilford progeria syndrome
Question: What are the treatments for Hutchinson-Gilford progeria syndrome ?
Answer: These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome:  - Gene Review: Gene Review: Hutchinson-Gilford Progeria Syndrome  - Genetic Testing Registry: Hutchinson-Gilford syndrome  - MedlinePlus Encyclopedia: Progeria   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
Source: GHR
Topic: Northern epilepsy
Question: What is (are) Northern epilepsy ?
Answer: Northern epilepsy is a genetic condition that causes recurrent seizures (epilepsy) beginning in childhood, usually between ages 5 and 10. Seizures are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. These seizures typically last less than 5 minutes but can last up to 15 minutes. Some people with Northern epilepsy also experience partial seizures, which do not cause a loss of consciousness. The seizures occur approximately one to two times per month until adolescence; then the frequency decreases to about four to six times per year by early adulthood. By middle age, seizures become even less frequent.  Two to 5 years after the start of seizures, people with Northern epilepsy begin to experience a decline in intellectual function, which can result in mild intellectual disability. Problems with coordination usually begin in young adulthood and lead to clumsiness and difficulty with fine motor activities such as writing, using eating utensils, and fastening buttons. During this time, affected individuals often begin to develop balance problems and they walk slowly with short, wide steps. These intellectual and movement problems worsen over time. A loss of sharp vision (reduced visual acuity) may also occur in early to mid-adulthood.  Individuals with Northern epilepsy often live into late adulthood, but depending on the severity of the intellectual disability and movement impairments, they may require assistance with tasks of everyday living.  Northern epilepsy is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. These disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Northern epilepsy is the mildest form of NCL.
Source: GHR
Topic: Northern epilepsy
Question: How many people are affected by Northern epilepsy ?
Answer: Northern epilepsy appears to affect only individuals of Finnish ancestry, particularly those from the Kainuu region of northern Finland. Approximately 1 in 10,000 individuals in this region have the condition.
Source: GHR
Topic: Northern epilepsy
Question: What are the genetic changes related to Northern epilepsy ?
Answer: Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Based on the structure of the CLN8 protein, it may also help regulate the levels of fats (lipids) in cells.  A single CLN8 gene mutation has been identified to cause Northern epilepsy. Nearly all affected individuals have this mutation in both copies of the CLN8 gene in each cell. The effects of this mutation on protein function are unclear. Unlike other forms of NCL that result in the accumulation of large amounts of fatty substances called lipopigments in cells, contributing to cell death, Northern epilepsy is associated with very little lipopigment buildup. People with Northern epilepsy do have mild brain abnormalities resulting from cell death, but the cause of this brain cell death is unknown. It is also unclear how changes in the CLN8 protein and a loss of brain cells cause the neurological problems associated with Northern epilepsy.
Source: GHR
Topic: Northern epilepsy
Question: Is Northern epilepsy inherited ?
Answer: 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.
Source: GHR
Topic: Northern epilepsy
Question: What are the treatments for Northern epilepsy ?
Answer: These resources address the diagnosis or management of Northern epilepsy:  - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses  - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant   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
Source: GHR
Topic: mandibuloacral dysplasia
Question: What is (are) mandibuloacral dysplasia ?
Answer: Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).  People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes.  A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs.  MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.
Source: GHR
Topic: mandibuloacral dysplasia
Question: How many people are affected by mandibuloacral dysplasia ?
Answer: Mandibuloacral dysplasia is a rare condition; its prevalence is unknown.
Source: GHR
Topic: mandibuloacral dysplasia
Question: What are the genetic changes related to mandibuloacral dysplasia ?
Answer: The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes.  The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C.  The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein.  Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia.
Source: GHR
Topic: mandibuloacral dysplasia
Question: Is mandibuloacral dysplasia inherited ?
Answer: 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.
Source: GHR
Topic: mandibuloacral dysplasia
Question: What are the treatments for mandibuloacral dysplasia ?
Answer: These resources address the diagnosis or management of mandibuloacral dysplasia:  - Genetic Testing Registry: Mandibuloacral dysostosis  - Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy   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
Source: GHR
Topic: sporadic hemiplegic migraine
Question: What is (are) sporadic hemiplegic migraine ?
Answer: Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.  In sporadic hemiplegic migraine and some other types of migraine, a pattern of neurological symptoms called an aura occurs before onset of the headache. An aura commonly includes temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with sporadic hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour.  Some people with sporadic hemiplegic migraine experience unusually severe migraine episodes. These episodes can include fever, prolonged weakness, seizures, and coma. Although most people with sporadic hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. Some affected individuals develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus. Mild to severe intellectual disability has been reported in some people with sporadic hemiplegic migraine.
Source: GHR
Topic: sporadic hemiplegic migraine
Question: How many people are affected by sporadic hemiplegic migraine ?
Answer: The worldwide prevalence of sporadic hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the condition (sporadic hemiplegic migraine).
Source: GHR
Topic: sporadic hemiplegic migraine
Question: What are the genetic changes related to sporadic hemiplegic migraine ?
Answer: Mutations in the ATP1A2 and CACNA1A genes have been found to cause sporadic hemiplegic migraine. The proteins produced from these genes transport charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. Signaling between neurons relies on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Mutations in the ATP1A2 and CACNA1A genes disrupt the transport of ions in neurons, which is thought to impair the normal release and uptake of certain neurotransmitters in the brain. The resulting abnormal signaling may lead to the severe headaches and auras characteristic of sporadic hemiplegic migraine.  Many people with sporadic hemiplegic migraine do not have a mutation in one of the known genes. Researchers believe that mutations in other genes are also involved in the condition, although these genes have not been identified.  There is little evidence that mutations in the CACNA1A and ATP1A2 genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as sporadic hemiplegic migraine, as well as the more common forms of migraine.
Source: GHR
Topic: sporadic hemiplegic migraine
Question: Is sporadic hemiplegic migraine inherited ?
Answer: Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. (When some people with the mutation have no signs and symptoms of the disorder, the condition is said to have reduced penetrance.) Although family members of an affected individual do not have sporadic hemiplegic migraine, some experience migraine headaches without hemiparesis. A related condition, familial hemiplegic migraine, has signs and symptoms identical to those in sporadic hemiplegic migraine but occurs in multiple members of a family.
Source: GHR
Topic: sporadic hemiplegic migraine
Question: What are the treatments for sporadic hemiplegic migraine ?
Answer: These resources address the diagnosis or management of sporadic hemiplegic migraine:  - Genetic Testing Registry: Migraine, sporadic hemiplegic  - Journal of the American Medical Association Patient Page: Migraine Headache   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
Source: GHR
Topic: Silver syndrome
Question: What is (are) Silver syndrome ?
Answer: Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.  The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life.
Source: GHR
Topic: Silver syndrome
Question: How many people are affected by Silver syndrome ?
Answer: Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown.
Source: GHR
Topic: Silver syndrome
Question: What are the genetic changes related to Silver syndrome ?
Answer: Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within cells, seipin is found in the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport.  BSCL2 gene mutations that cause Silver syndrome likely lead to an alteration in the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum. This accumulation likely damages and kills motor neurons, which leads to muscle weakness and spasticity. In Silver syndrome, only specific motor neurons are involved, resulting in the hand and leg muscles being solely affected.  Some people with Silver syndrome do not have an identified mutation in the BSCL2 gene. The cause of the condition in these individuals is unknown.
Source: GHR
Topic: Silver syndrome
Question: Is Silver syndrome inherited ?
Answer: Silver syndrome 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 these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not.  Rarely, Silver syndrome is caused by new mutations in the gene and occurs in people with no history of the disorder in their family.
Source: GHR