fenil210/Med-Lamma huggingface dataset:
What are the treatments for MEGDEL syndrome ?
These resources address the diagnosis or management of MEGDEL syndrome:  - Baby's First Test: 3-Methylglutaconic Aciduria  - Gene Review: Gene Review: MEGDEL Syndrome  - Genetic Testing Registry: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like 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 + GHR + MEGDEL syndrome
What is (are) DMD-associated dilated cardiomyopathy ?
DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with DMD-associated dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.  Dilated cardiomyopathy is a feature of two related conditions that are also caused by mutations in the DMD gene: Duchenne and Becker muscular dystrophy. In addition to heart disease, these conditions are characterized by progressive weakness and wasting of muscles used for movement (skeletal muscles). People with DMD-associated dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, DMD-associated dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. + GHR + DMD-associated dilated cardiomyopathy
How many people are affected by DMD-associated dilated cardiomyopathy ?
DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown. + GHR + DMD-associated dilated cardiomyopathy
What are the genetic changes related to DMD-associated dilated cardiomyopathy ?
DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of DMD-associated dilated cardiomyopathy.  The mutations that cause DMD-associated dilated cardiomyopathy often lead to reduced amounts of dystrophin in skeletal muscle cells. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles.  Because DMD-associated dilated cardiomyopathy results from a shortage of dystrophin, it is classified as a dystrophinopathy. + GHR + DMD-associated dilated cardiomyopathy
Is DMD-associated dilated cardiomyopathy inherited ?
DMD-associated dilated cardiomyopathy has an X-linked pattern of inheritance. The DMD gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that appears later in life. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes more severe signs and symptoms that occur earlier in life. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. + GHR + DMD-associated dilated cardiomyopathy
What are the treatments for DMD-associated dilated cardiomyopathy ?
These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy:  - Gene Review: Gene Review: Dilated Cardiomyopathy Overview  - Gene Review: Gene Review: Dystrophinopathies  - Genetic Testing Registry: Dilated cardiomyopathy 3B  - Genetic Testing Registry: Duchenne muscular dystrophy  - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Diagnosed?  - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Treated?   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + DMD-associated dilated cardiomyopathy
What is (are) pyruvate dehydrogenase deficiency ?
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood. + GHR + pyruvate dehydrogenase deficiency
How many people are affected by pyruvate dehydrogenase deficiency ?
Pyruvate dehydrogenase deficiency is believed to be a rare condition; however, its prevalence is unknown. + GHR + pyruvate dehydrogenase deficiency
What are the genetic changes related to pyruvate dehydrogenase deficiency ?
The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produce energy for cells.  The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins included in the complex ensure its proper function. One of these proteins, E3 binding protein, attaches E3 to the complex and provides the correct structure for the complex to perform its function. Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex.  The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex.  Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. Although it is unclear how mutations in each of these genes affect the complex, reduced functioning of one component of the complex appears to impair the activity of the whole complex. As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity.  With decreased function of this complex, pyruvate builds up and is converted in another chemical reaction to lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of cellular energy is diminished. The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency. + GHR + pyruvate dehydrogenase deficiency
Is pyruvate dehydrogenase deficiency inherited ?
Pyruvate dehydrogenase deficiency can have different inheritance patterns. When the condition is caused by mutations in the PDHA1 gene, it is inherited in an X-linked recessive pattern. The PDHA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would usually have to occur in both copies of the gene to cause the disorder. However, in pyruvate dehydrogenase deficiency, one altered copy of the PDHA1 gene is sufficient to cause the disorder, because the X chromosome with the normal copy of the PDHA1 gene is turned off through a process called X-inactivation.  Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation.  Research shows that females with pyruvate dehydrogenase deficiency caused by mutation of the PDHA1 gene have skewed X-inactivation, which results in the inactivation of the X chromosome with the normal copy of the PDHA1 gene in most cells of the body. This skewed X-inactivation causes the chromosome with the mutated PDHA1 gene to be expressed in more than half of cells.  When caused by mutations in the other associated genes, pyruvate dehydrogenase deficiency 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. + GHR + pyruvate dehydrogenase deficiency
What are the treatments for pyruvate dehydrogenase deficiency ?
These resources address the diagnosis or management of pyruvate dehydrogenase deficiency:  - Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency  - Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency  - Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency  - Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency  - Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + pyruvate dehydrogenase deficiency
What is (are) Fryns syndrome ?
Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.  Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary hypoplasia), which can cause life-threatening breathing difficulties in affected infants.  Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small chin (micrognathia). Many also have low-set and abnormally shaped ears.  Several additional features have been reported in people with Fryns syndrome. These include small eyes (microphthalmia), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia.  Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe developmental delay and intellectual disability. + GHR + Fryns syndrome
How many people are affected by Fryns syndrome ?
The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia. + GHR + Fryns syndrome
What are the genetic changes related to Fryns syndrome ?
The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder. + GHR + Fryns syndrome
Is Fryns syndrome inherited ?
Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. + GHR + Fryns syndrome
What are the treatments for Fryns syndrome ?
These resources address the diagnosis or management of Fryns syndrome:  - Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia  - Gene Review: Gene Review: Fryns Syndrome  - Genetic Testing Registry: Fryns syndrome  - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia   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 + GHR + Fryns syndrome
What is (are) Cockayne syndrome ?
Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans.  Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood. + GHR + Cockayne syndrome
How many people are affected by Cockayne syndrome ?
Cockayne syndrome occurs in about 2 per million newborns in the United States and Europe. + GHR + Cockayne syndrome
What are the genetic changes related to Cockayne syndrome ?
Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. However, in people with Cockayne syndrome, DNA damage is not repaired normally. As more abnormalities build up in DNA, cells malfunction and eventually die. The increased cell death likely contributes to the features of Cockayne syndrome, such as growth failure and premature aging. + GHR + Cockayne syndrome
Is Cockayne syndrome inherited ?
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. + GHR + Cockayne syndrome
What are the treatments for Cockayne syndrome ?
These resources address the diagnosis or management of Cockayne syndrome:  - Gene Review: Gene Review: Cockayne Syndrome  - Genetic Testing Registry: Cockayne syndrome  - Genetic Testing Registry: Cockayne syndrome type A  - Genetic Testing Registry: Cockayne syndrome type C  - Genetic Testing Registry: Cockayne syndrome, type B  - MedlinePlus Encyclopedia: Failure to Thrive   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 + GHR + Cockayne syndrome
What is (are) early-onset primary dystonia ?
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.  On average, the signs and symptoms of early-onset primary dystonia appear around age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or walking. In some affected people, dystonia later spreads to other parts of the body and may occur at rest. The abnormal movements persist throughout life, but they do not usually cause pain.  The signs and symptoms of early-onset primary dystonia vary from person to person, even among affected members of the same family. The mildest cases affect only a single part of the body, causing isolated problems such as a writer's cramp in the hand. Severe cases involve abnormal movements affecting many regions of the body. + GHR + early-onset primary dystonia
How many people are affected by early-onset primary dystonia ?
Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people worldwide. + GHR + early-onset primary dystonia
What are the genetic changes related to early-onset primary dystonia ?
A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It appears to be critical for the normal development and function of nerve cells in the brain.  A mutation in the TOR1A gene alters the structure of torsinA. The altered protein's effect on the function of nerve cells in the brain is unclear. People with early-onset primary dystonia do not have a loss of nerve cells or obvious changes in the structure of the brain that would explain the abnormal muscle contractions. Instead, the altered torsinA protein may have subtle effects on the connections between nerve cells and likely disrupts chemical signaling between nerve cells that control movement. Researchers are working to determine how a change in this protein leads to the characteristic features of this disorder. + GHR + early-onset primary dystonia
Is early-onset primary dystonia inherited ?
Mutations in the TOR1A gene are inherited in an autosomal dominant pattern, which means one of the two copies of the gene is altered in each cell. Many people who have a mutation in this gene are not affected by the disorder and may never know they have the mutation. Only 30 to 40 percent of people who inherit a TOR1A mutation will ever develop signs and symptoms of early-onset primary dystonia.  Everyone who has been diagnosed with early-onset primary dystonia has inherited a TOR1A mutation from one parent. The parent may or may not have signs and symptoms of the condition, and other family members may or may not be affected. + GHR + early-onset primary dystonia
What are the treatments for early-onset primary dystonia ?
These resources address the diagnosis or management of early-onset primary dystonia:  - Gene Review: Gene Review: DYT1 Early-Onset Primary Dystonia  - Genetic Testing Registry: Dystonia 1  - MedlinePlus Encyclopedia: Movement - uncontrolled or slow   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 + GHR + early-onset primary dystonia