sarnsrun/medquad huggingface dataset:
Topic: Sotos syndrome
Question: What are the genetic changes related to Sotos syndrome ?
Answer: Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified.  The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify structural proteins called histones, which attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases regulate the activity of certain genes and can turn them on and off as needed. The NSD1 protein controls the activity of genes involved in normal growth and development, although most of these genes have not been identified.  Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome.
Source: GHR
Topic: Sotos syndrome
Question: Is Sotos syndrome inherited ?
Answer: About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene.  A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
Source: GHR
Topic: Sotos syndrome
Question: What are the treatments for Sotos syndrome ?
Answer: These resources address the diagnosis or management of Sotos syndrome:  - Gene Review: Gene Review: Sotos Syndrome  - Genetic Testing Registry: Sotos' syndrome  - MedlinePlus Encyclopedia: Increased Head Circumference   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: Friedreich ataxia
Question: What is (are) Friedreich ataxia ?
Answer: Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis).  Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.  About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.
Source: GHR
Topic: Friedreich ataxia
Question: How many people are affected by Friedreich ataxia ?
Answer: Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups.
Source: GHR
Topic: Friedreich ataxia
Question: What are the genetic changes related to Friedreich ataxia ?
Answer: Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene.  In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. People with GAA segments repeated fewer than 300 times tend to have a later appearance of symptoms (after age 25) than those with larger GAA trinucleotide repeats. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.
Source: GHR
Topic: Friedreich ataxia
Question: Is Friedreich ataxia 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: Friedreich ataxia
Question: What are the treatments for Friedreich ataxia ?
Answer: These resources address the diagnosis or management of Friedreich ataxia:  - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines  - Gene Review: Gene Review: Friedreich Ataxia  - Genetic Testing Registry: Friedreich ataxia 1  - MedlinePlus Encyclopedia: Friedreich's Ataxia  - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy  - National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet   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: chronic atrial and intestinal dysrhythmia
Question: What is (are) chronic atrial and intestinal dysrhythmia ?
Answer: Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food through the intestines (peristalsis), causing a digestive condition called intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20.  Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of the sinoatrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally, which usually causes the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia) or rapidly switches from being too fast to being too slow (tachycardia-bradycardia syndrome). Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue).  In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup of partially digested food in the intestines, abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those caused by an intestinal blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no such blockage is found.
Source: GHR
Topic: chronic atrial and intestinal dysrhythmia
Question: How many people are affected by chronic atrial and intestinal dysrhythmia ?
Answer: The prevalence of CAID is unknown. At least 17 affected individuals have been described in the medical literature.
Source: GHR
Topic: chronic atrial and intestinal dysrhythmia
Question: What are the genetic changes related to chronic atrial and intestinal dysrhythmia ?
Answer: CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Cohesin holds the sister chromatids together, and in doing so helps maintain the stability of chromosomal structure during cell division.  Researchers suggest that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause early aging (senescence) of cells in the intestinal muscle and in the SA node, resulting in problems maintaining proper rhythmic movements of the heart and intestines and leading to the signs and symptoms of CAID.  It is unclear why SGO1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGO1 gene in certain embryonic tissues or a particular function of the SGO1 protein in the SA node and in cells that help control peristalsis may account for the features of the disorder.
Source: GHR
Topic: chronic atrial and intestinal dysrhythmia
Question: Is chronic atrial and intestinal dysrhythmia 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: chronic atrial and intestinal dysrhythmia
Question: What are the treatments for chronic atrial and intestinal dysrhythmia ?
Answer: These resources address the diagnosis or management of chronic atrial and intestinal dysrhythmia:  - Children's Hospital of Pittsburgh: Chronic Intestinal Pseudo-obstruction  - Genetic Testing Registry: Chronic atrial and intestinal dysrhythmia  - MedlinePlus Encyclopedia: Heart Pacemakers  - MedlinePlus Health Topic: Nutritional Support  - MedlinePlus Health Topic: Pacemakers and Implantable Defibrillators  - National Heart, Lung, and Blood Institute: What is a Pacemaker?   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: mucopolysaccharidosis type VI
Question: What is (are) mucopolysaccharidosis type VI ?
Answer: Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.  People with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Affected individuals also frequently develop heart valve abnormalities, an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VI, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) typically becomes cloudy, which can cause significant vision loss. People with MPS VI may also have recurrent ear infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI does not affect intelligence.  MPS VI causes various skeletal abnormalities, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VI and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VI may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.  The life expectancy of individuals with MPS VI depends on the severity of symptoms. Without treatment, severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Heart disease and airway obstruction are major causes of death in people with MPS VI.
Source: GHR
Topic: mucopolysaccharidosis type VI
Question: How many people are affected by mucopolysaccharidosis type VI ?
Answer: The exact incidence of MPS VI is unknown, although it is estimated to occur in 1 in 250,000 to 600,000 newborns.
Source: GHR
Topic: mucopolysaccharidosis type VI
Question: What are the genetic changes related to mucopolysaccharidosis type VI ?
Answer: Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the ARSB gene reduce or completely eliminate the function of arylsulfatase B. The lack of arylsulfatase B activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs within lysosomes increases the size of the cells, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the buildup of GAGs may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death.
Source: GHR
Topic: mucopolysaccharidosis type VI
Question: Is mucopolysaccharidosis type VI 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: mucopolysaccharidosis type VI
Question: What are the treatments for mucopolysaccharidosis type VI ?
Answer: These resources address the diagnosis or management of mucopolysaccharidosis type VI:  - Emory University Lysosomal Storage Disease Center  - Genetic Testing Registry: Mucopolysaccharidosis type VI  - MedlinePlus Encyclopedia: Mucopolysaccharides  - National Institute of Neurological Disorders and Stroke: Mucopolysaccharidoses Fact Sheet  - National MPS Society: Treatments   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 osteochondritis dissecans
Question: What is (are) familial osteochondritis dissecans ?
Answer: Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.  A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.
Source: GHR
Topic: familial osteochondritis dissecans
Question: How many people are affected by familial osteochondritis dissecans ?
Answer: Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals.
Source: GHR
Topic: familial osteochondritis dissecans
Question: What are the genetic changes related to familial osteochondritis dissecans ?
Answer: Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints.  The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage leads to the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers suggest that a disorganized cartilage network in growing bones impairs their normal growth, leading to short stature.  Sporadic osteochondritis dissecans is not caused by genetic changes and is not inherited.
Source: GHR
Topic: familial osteochondritis dissecans
Question: Is familial osteochondritis dissecans 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.  In most cases, an affected person has one parent with the condition.
Source: GHR
Topic: familial osteochondritis dissecans
Question: What are the treatments for familial osteochondritis dissecans ?
Answer: These resources address the diagnosis or management of familial osteochondritis dissecans:  - Cedars-Sinai  - Genetic Testing Registry: Osteochondritis dissecans  - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis   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: age-related macular degeneration
Question: What is (are) age-related macular degeneration ?
Answer: Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.  Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected.  Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and slowly progressive vision loss. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other.  The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted.
Source: GHR
Topic: age-related macular degeneration
Question: How many people are affected by age-related macular degeneration ?
Answer: Age-related macular degeneration has an estimated prevalence of 1 in 2,000 people in the United States and other developed countries. The condition currently affects several million Americans, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increases.  For reasons that are unclear, age-related macular degeneration affects individuals of European descent more frequently than African Americans in the United States.
Source: GHR