sarnsrun/medquad huggingface dataset:
Topic: spinal muscular atrophy with respiratory distress type 1
Question: What is (are) spinal muscular atrophy with respiratory distress type 1 ?
Answer: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood.  Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. These are the muscles farther from the center of the body, such as muscles in the hands and feet. The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer.  Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia).
Source: GHR
Topic: spinal muscular atrophy with respiratory distress type 1
Question: How many people are affected by spinal muscular atrophy with respiratory distress type 1 ?
Answer: SMARD1 appears to be a rare condition, but its prevalence is unknown. More than 60 cases have been reported in the scientific literature.
Source: GHR
Topic: spinal muscular atrophy with respiratory distress type 1
Question: What are the genetic changes related to spinal muscular atrophy with respiratory distress type 1 ?
Answer: Mutations in the IGHMBP2 gene cause SMARD1. The IGHMBP2 gene provides instructions for making a protein involved in copying (replicating) DNA; producing RNA, a chemical cousin of DNA; and producing proteins. IGHMBP2 gene mutations that cause SMARD1 lead to the production of a protein with reduced ability to aid in DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Although the mechanism is unknown, altered IGHMBP2 proteins contribute to the damage of these neurons and their death over time. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1.  Research suggests that the amount of functional protein that is produced from the mutated IGHMBP2 gene may play a role in the severity of SMARD1. Individuals who have some functional protein are more likely to develop signs and symptoms later in childhood and retain a greater level of muscle function.
Source: GHR
Topic: spinal muscular atrophy with respiratory distress type 1
Question: Is spinal muscular atrophy with respiratory distress type 1 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: spinal muscular atrophy with respiratory distress type 1
Question: What are the treatments for spinal muscular atrophy with respiratory distress type 1 ?
Answer: These resources address the diagnosis or management of SMARD1:  - Genetic Testing Registry: Spinal muscular atrophy with respiratory distress 1   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: rhizomelic chondrodysplasia punctata
Question: What is (are) rhizomelic chondrodysplasia punctata ?
Answer: Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.  Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful.  Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy.  Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common. Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. It is rare for affected children to live past age 10. However, a few individuals with milder features of the condition have lived into early adulthood.  Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar features and are distinguished by their genetic cause.
Source: GHR
Topic: rhizomelic chondrodysplasia punctata
Question: How many people are affected by rhizomelic chondrodysplasia punctata ?
Answer: Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3.
Source: GHR
Topic: rhizomelic chondrodysplasia punctata
Question: What are the genetic changes related to rhizomelic chondrodysplasia punctata ?
Answer: Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3.  The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes. Peroxisomes are sac-like compartments within cells that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system.  Within peroxisomes, the proteins produced from the PEX7, GNPAT, and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell membranes throughout the body, although little is known about their function. Mutations in the PEX7, GNPAT, or AGPS genes prevent peroxisomes from making plasmalogens. Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata.
Source: GHR
Topic: rhizomelic chondrodysplasia punctata
Question: Is rhizomelic chondrodysplasia punctata 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: rhizomelic chondrodysplasia punctata
Question: What are the treatments for rhizomelic chondrodysplasia punctata ?
Answer: These resources address the diagnosis or management of rhizomelic chondrodysplasia punctata:  - Gene Review: Gene Review: Rhizomelic Chondrodysplasia Punctata Type 1  - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 1  - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2  - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 3   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: GLUT1 deficiency syndrome
Question: What is (are) GLUT1 deficiency syndrome ?
Answer: GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).  About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or involuntary tensing of various muscles (dystonia); the movement problems may be more pronounced than in the common form.  Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 deficiency syndrome produce abnormal red blood cells and have uncommon forms of a blood condition known as anemia, which is characterized by a shortage of red blood cells.
Source: GHR
Topic: GLUT1 deficiency syndrome
Question: How many people are affected by GLUT1 deficiency syndrome ?
Answer: GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms.
Source: GHR
Topic: GLUT1 deficiency syndrome
Question: What are the genetic changes related to GLUT1 deficiency syndrome ?
Answer: GLUT1 deficiency syndrome is caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel.  In the brain, the GLUT1 protein is involved in moving glucose, which is the brain's main energy source, across the blood-brain barrier. The blood-brain barrier acts as a boundary between tiny blood vessels (capillaries) and the surrounding brain tissue; it protects the brain's delicate nerve tissue by preventing many other types of molecules from entering the brain. The GLUT1 protein also moves glucose between cells in the brain called glia, which protect and maintain nerve cells (neurons).  SLC2A1 gene mutations reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function.
Source: GHR
Topic: GLUT1 deficiency syndrome
Question: Is GLUT1 deficiency syndrome inherited ?
Answer: This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from an affected parent.  In a small number of families, GLUT1 deficiency syndrome 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: GLUT1 deficiency syndrome
Question: What are the treatments for GLUT1 deficiency syndrome ?
Answer: These resources address the diagnosis or management of GLUT1 deficiency syndrome:  - G1D Registry  - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome  - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome  - The Glucose Transporter Type 1 Deficiency Syndrome Research Consortium (G1DRC)   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: permanent neonatal diabetes mellitus
Question: What is (are) permanent neonatal diabetes mellitus ?
Answer: Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.  Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).  In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.  A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.
Source: GHR
Topic: permanent neonatal diabetes mellitus
Question: How many people are affected by permanent neonatal diabetes mellitus ?
Answer: About 1 in 400,000 infants are diagnosed with diabetes mellitus in the first few months of life. However, in about half of these babies the condition is transient and goes away on its own by age 18 months. The remainder are considered to have permanent neonatal diabetes mellitus.
Source: GHR
Topic: permanent neonatal diabetes mellitus
Question: What are the genetic changes related to permanent neonatal diabetes mellitus ?
Answer: Permanent neonatal diabetes mellitus may be caused by mutations in several genes.  About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene.  K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. These channels open and close in response to the amount of glucose in the bloodstream. Closure of the channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels.  Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control.  Mutations in the INS gene, which provides instructions for making insulin, have been identified in about 20 percent of individuals with permanent neonatal diabetes mellitus. Insulin is produced in a precursor form called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called the A and B chains, which are joined together by connections called disulfide bonds to form insulin. Mutations in the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control.  Permanent neonatal diabetes mellitus can also be caused by mutations in other genes, some of which have not been identified.
Source: GHR
Topic: permanent neonatal diabetes mellitus
Question: Is permanent neonatal diabetes mellitus inherited ?
Answer: Permanent neonatal diabetes mellitus can have different inheritance patterns.  When this condition is caused by mutations in the KCNJ11 or INS gene it 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 about 90 percent of these cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. In the remaining cases, an affected person inherits the mutation from one affected parent.  When permanent neonatal diabetes mellitus is caused by mutations in the ABCC8 gene, it may be inherited in either an autosomal dominant or autosomal recessive pattern. In autosomal recessive inheritance, 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.  Less commonly the condition is caused by mutations in other genes, and in these cases it is also inherited in an autosomal recessive pattern.
Source: GHR
Topic: permanent neonatal diabetes mellitus
Question: What are the treatments for permanent neonatal diabetes mellitus ?
Answer: These resources address the diagnosis or management of permanent neonatal diabetes mellitus:  - Gene Review: Gene Review: Permanent Neonatal Diabetes Mellitus  - Genetic Testing Registry: Pancreatic agenesis, congenital  - Genetic Testing Registry: Permanent neonatal diabetes mellitus  - University of Chicago Kovler Diabetes Center   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: familial cylindromatosis
Question: What is (are) familial cylindromatosis ?
Answer: Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.  Individuals with familial cylindromatosis occasionally develop other types of tumors, including growths called spiradenomas and trichoepitheliomas. Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair follicles. The tumors associated with familial cylindromatosis are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.  People with familial cylindromatosis typically begin developing tumors in adolescence or early adulthood. The tumors are most often found in hairy regions of the body, with approximately 90 percent occurring on the head and neck. They grow larger and increase in number over time.  In severely affected individuals, multiple tumors on the scalp may combine into a large, turban-like growth. Large growths frequently develop open sores (ulcers) and are prone to infections. The tumors may also get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with familial cylindromatosis are often more severely affected than males.
Source: GHR
Topic: familial cylindromatosis
Question: How many people are affected by familial cylindromatosis ?
Answer: Familial cylindromatosis is a rare disorder; its prevalence is unknown.
Source: GHR