Druvith/medqa1 huggingface dataset:
Question:  Is adenosine deaminase deficiency 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.
Question:  What are the treatments for adenosine deaminase deficiency ?
Answer: These resources address the diagnosis or management of ADA deficiency:  - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders  - Baby's First Test: Severe Combined Immunodeficiency  - Gene Review: Gene Review: Adenosine Deaminase Deficiency  - Genetic Testing Registry: Severe combined immunodeficiency due to ADA deficiency  - National Marrow Donor Program: SCID and Transplant   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
Question:  What is (are) myotonic dystrophy ?
Answer: Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.  Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.  Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.  There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.  A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, is apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.
Question:  How many people are affected by myotonic dystrophy ?
Answer: Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland.
Question:  What are the genetic changes related to myotonic dystrophy ?
Answer: Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. It appears to be important for the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). The protein produced from the CNBP gene is found primarily in the heart and in skeletal muscles, where it probably helps regulate the function of other genes.  Similar changes in the structure of the DMPK and CNBP genes cause the two forms of myotonic dystrophy. In each case, a segment of DNA is abnormally repeated many times, forming an unstable region in the gene. The mutated gene produces an expanded version of messenger RNA, which is a molecular blueprint of the gene that is normally used to guide the production of proteins. The abnormally long messenger RNA forms clumps inside the cell that interfere with the production of many other proteins. These changes prevent muscle cells and cells in other tissues from functioning normally, which leads to the signs and symptoms of myotonic dystrophy.
Question:  Is myotonic dystrophy inherited ?
Answer: Both types of myotonic dystrophy are 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.  As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon, called anticipation, has been reported with both types of myotonic dystrophy. However, the evidence for anticipation appears to be strongest in myotonic dystrophy type 1. In this form of the disorder, anticipation is caused by an increase in the length of the unstable region in the DMPK gene. It is less clear whether anticipation occurs in myotonic dystrophy type 2, and the mechanism is unknown. A longer unstable region in the CNBP gene does not appear to influence the age of onset of the disorder.
Question:  What are the treatments for myotonic dystrophy ?
Answer: These resources address the diagnosis or management of myotonic dystrophy:  - Gene Review: Gene Review: Myotonic Dystrophy Type 1  - Gene Review: Gene Review: Myotonic Dystrophy Type 2  - Genetic Testing Registry: Myotonic dystrophy type 2  - Genetic Testing Registry: Steinert myotonic dystrophy syndrome  - MedlinePlus Encyclopedia: Muscular Dystrophy  - University of Washington: Myotonic Dystrophy: Making an Informed Choice About Genetic Testing   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
Question:  How many people are affected by Pol III-related leukodystrophy ?
Answer: Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy.
Question:  What are the genetic changes related to Pol III-related leukodystrophy ?
Answer: Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells.  Researchers suggest that mutations in the POLR3A or POLR3B gene may impair the ability of subunits of the RNA polymerase III enzyme to assemble properly or result in an RNA polymerase III with impaired ability to bind to DNA. Reduced function of the RNA polymerase III molecule likely affects development and function of many parts of the body, including the nervous system and the teeth, but the relationship between POLR3A and POLR3B gene mutations and the specific signs and symptoms of Pol III-related leukodystrophy is unknown.
Question:  Is Pol III-related leukodystrophy 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.
Question:  What are the treatments for Pol III-related leukodystrophy ?
Answer: These resources address the diagnosis or management of Pol III-related leukodystrophy:  - Eastman Dental Hospital: Hypodontia Clinic  - Gene Review: Gene Review: Pol III-Related Leukodystrophies  - Genetic Testing Registry: Pol III-related leukodystrophy  - Johns Hopkins Medicine: Treating Ataxia  - National Ataxia Foundation: Diagnosis of Ataxia  - UCSF Benioff Children's Hospital: Hypodontia  - University of Chicago Ataxia 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
Question:  What is (are) Legius syndrome ?
Answer: Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals.  Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention deficit disorder (ADD), or attention deficit hyperactivity disorder (ADHD).  Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.
Question:  How many people are affected by Legius syndrome ?
Answer: The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.
Question:  What are the genetic changes related to Legius syndrome ?
Answer: Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). Mutations in the SPRED1 gene lead to a nonfunctional protein that can no longer regulate the pathway, resulting in overactive signaling. It is unclear how mutations in the SPRED1 gene cause the signs and symptoms of Legius syndrome.
Question:  Is Legius syndrome inherited ?
Answer: 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.
Question:  What are the treatments for Legius syndrome ?
Answer: These resources address the diagnosis or management of Legius syndrome:  - Children's Tumor Foundation: NF1 or Legius Syndrome--An Emerging Challenge of Clinical Diagnosis  - Gene Review: Gene Review: Legius Syndrome  - Genetic Testing Registry: Legius 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
Question:  What is (are) Perrault syndrome ?
Answer: Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.  In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time.  Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile).  Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.
Question:  How many people are affected by Perrault syndrome ?
Answer: Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome.
Question:  What are the genetic changes related to Perrault syndrome ?
Answer: Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Although the effect of these gene mutations on mitochondrial function is unknown, researchers speculate that disruption of mitochondrial energy production could underlie the signs and symptoms of Perrault syndrome.  The protein produced from the HSD17B4 gene is active in cell structures called peroxisomes, which contain a variety of enzymes that break down many different substances in cells. It is not known how mutations in this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault syndrome.  It is likely that other genes that have not been identified are also involved in this condition.
Question:  Is Perrault syndrome 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 do not show signs and symptoms of the condition.
Question:  What are the treatments for Perrault syndrome ?
Answer: These resources address the diagnosis or management of Perrault syndrome:  - Gene Review: Gene Review: Perrault Syndrome  - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance  - Genetic Testing Registry: Perrault syndrome 2  - Genetic Testing Registry: Perrault syndrome 4  - Genetic Testing Registry: Perrault syndrome 5   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
Question:  What is (are) hepatic veno-occlusive disease with immunodeficiency ?
Answer: Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.  Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.  Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.  Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.
Question:  How many people are affected by hepatic veno-occlusive disease with immunodeficiency ?
Answer: VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy.
Question:  What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ?
Answer: VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such as viruses and bacteria).  Mutations in the SP110 gene prevent cells from making functional SP110 nuclear body protein, which impairs the immune system's ability to fight off infections. It is unclear how a lack of this protein affects blood flow in the liver.
Question:  Is hepatic veno-occlusive disease with immunodeficiency 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.
Question:  What are the treatments for hepatic veno-occlusive disease with immunodeficiency ?
Answer: These resources address the diagnosis or management of VODI:  - Gene Review: Gene Review: Hepatic Veno-Occlusive Disease with Immunodeficiency  - Genetic Testing Registry: Hepatic venoocclusive disease with immunodeficiency   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
Question:  What is (are) arrhythmogenic right ventricular cardiomyopathy ?
Answer: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.  ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.
Question:  How many people are affected by arrhythmogenic right ventricular cardiomyopathy ?
Answer: ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms.
Question:  What are the genetic changes related to arrhythmogenic right ventricular cardiomyopathy ?
Answer: ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells.  Mutations in the genes responsible for ARVC often impair the normal function of desmosomes. Without normal desmosomes, cells of the myocardium detach from one another and die, particularly when the heart muscle is placed under stress (such as during vigorous exercise). These changes primarily affect the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. The damaged myocardium is gradually replaced by fat and scar tissue. As this abnormal tissue builds up, the walls of the right ventricle become stretched out, preventing the heart from pumping blood effectively. These changes also disrupt the electrical signals that control the heartbeat, which can lead to arrhythmia.  Gene mutations have been found in 30 to 40 percent of people with ARVC. Mutations in a gene called PKP2 are most common. In people without an identified mutation, the cause of the disorder is unknown. Researchers are looking for additional genetic factors, particularly those involved in the function of desmosomes, that may play a role in causing ARVC.
Question:  Is arrhythmogenic right ventricular cardiomyopathy inherited ?
Answer: Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder.  Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a 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.
Question:  What are the treatments for arrhythmogenic right ventricular cardiomyopathy ?
Answer: These resources address the diagnosis or management of ARVC:  - Brigham and Women's Hospital  - Cleveland Clinic: How Are Arrhythmias Treated?  - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 1  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 10  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 12  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 2  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 3  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 4  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 5  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 6  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 7  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 8  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 9  - Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair  - St. Luke's-Roosevelt Hospital 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