Druvith/transformed_medDataset huggingface dataset:
What is (are) idiopathic inflammatory myopathy ? 
 Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.  The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).  There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.  Polymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.  Polymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).  In sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.
How many people are affected by idiopathic inflammatory myopathy ? 
 The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year.  For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men.
What are the genetic changes related to idiopathic inflammatory myopathy ? 
 Idiopathic inflammatory myopathy is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown.  Researchers have identified variations in several genes that may influence the risk of developing idiopathic inflammatory myopathy. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to affect the risk of developing idiopathic inflammatory myopathy. Researchers are studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing idiopathic inflammatory myopathy.  It is likely that specific genetic variations increase a person's risk of developing idiopathic inflammatory myopathy, and then exposure to certain environmental factors triggers the disorder. Infection, exposure to certain medications, and exposure to ultraviolet light (such as sunlight) have been identified as possible environmental triggers, but most risk factors for this condition remain unknown.
Is idiopathic inflammatory myopathy inherited ? 
 Most cases of idiopathic inflammatory myopathy are sporadic, which means they occur in people with no history of the disorder in their family. However, several people with idiopathic inflammatory myopathy have had close relatives with autoimmune disorders. Autoimmune diseases occur when the immune system malfunctions and attacks the body's tissues and organs.  A small percentage of all cases of idiopathic inflammatory myopathy have been reported to run in families; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with idiopathic inflammatory myopathy does not mean that a person will develop the condition.
What are the treatments for idiopathic inflammatory myopathy ? 
 These resources address the diagnosis or management of idiopathic inflammatory myopathy:  - Genetic Testing Registry: Idiopathic myopathy  - Genetic Testing Registry: Inclusion body myositis  - Johns Hopkins Myositis Center: Diagnosis  - Johns Hopkins Myositis Center: Treatment  - Muscular Dystrophy Association: Facts about Inflammatory Myopathies (Myositis)   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
What is (are) isobutyryl-CoA dehydrogenase deficiency ? 
 Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.  Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.
How many people are affected by isobutyryl-CoA dehydrogenase deficiency ? 
 IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature.
What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ? 
 Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency.
Is isobutyryl-CoA dehydrogenase deficiency 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.
What are the treatments for isobutyryl-CoA dehydrogenase deficiency ? 
 These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency:  - Baby's First Test  - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase  - MedlinePlus Encyclopedia: Dilated Cardiomyopathy   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
What is (are) spastic paraplegia type 8 ? 
 Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the nerves and muscles controlling the lower limbs and bladder, whereas the complex types also have significant involvement of the nervous system in other parts of the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia.  Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The signs and symptoms of spastic paraplegia type 8 usually appear in early to mid-adulthood. As the muscle weakness and spasticity get worse, some people may need the aid of a cane, walker, or wheelchair.
How many people are affected by spastic paraplegia type 8 ? 
 The prevalence of all hereditary spastic paraplegias combined is estimated to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely accounts for only a small percentage of all spastic paraplegia cases.
What are the genetic changes related to spastic paraplegia type 8 ? 
 Mutations in the KIAA0196 gene cause spastic paraplegia type 8. The KIAA0196 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body, although its exact function is unknown. The protein's structure suggests that strumpellin may interact with the structural framework inside cells (the cytoskeleton) and may attach (bind) to other proteins.  KIAA0196 gene mutations are thought to change the structure of the strumpellin protein. It is unknown how the altered strumpellin protein causes the signs and symptoms of spastic paraplegia type 8.
Is spastic paraplegia type 8 inherited ? 
 Spastic paraplegia type 8 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the treatments for spastic paraplegia type 8 ? 
 These resources address the diagnosis or management of spastic paraplegia type 8:  - Gene Review: Gene Review: Spastic Paraplegia 8  - Genetic Testing Registry: Spastic paraplegia 8  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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
What is (are) lamellar ichthyosis ? 
 Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).
How many people are affected by lamellar ichthyosis ? 
 Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected.
What are the genetic changes related to lamellar ichthyosis ? 
 Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections.  Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. TGM1 gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the cornified cell envelope.  Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified.
Is lamellar ichthyosis 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.
What are the treatments for lamellar ichthyosis ? 
 These resources address the diagnosis or management of lamellar ichthyosis:  - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips  - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4A  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 5  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8  - Genetic Testing Registry: Congenital ichthyosis of skin   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
What is (are) Huntington disease ? 
 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).  Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.  A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.
How many people are affected by Huntington disease ? 
 Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.
What are the genetic changes related to Huntington disease ? 
 Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.  The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder.  An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.
Is Huntington disease inherited ? 
 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. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder.  As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.  Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).
What are the treatments for Huntington disease ? 
 These resources address the diagnosis or management of Huntington disease:  - Gene Review: Gene Review: Huntington Disease  - Genetic Testing Registry: Huntington's chorea  - Huntington's Disease Society of America: HD Care  - MedlinePlus Encyclopedia: Huntington Disease  - University of Washington Medical Center: Testing for Huntington Disease: Making an Informed Choice   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
What is (are) dyserythropoietic anemia and thrombocytopenia ? 
 Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia.  The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals.  Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.
How many people are affected by dyserythropoietic anemia and thrombocytopenia ? 
 Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia.
What are the genetic changes related to dyserythropoietic anemia and thrombocytopenia ? 
 Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. The GATA1 protein is involved in the specialization (differentiation) of immature blood cells. To function properly, these immature cells must differentiate into specific types of mature blood cells. Through its activity as a transcription factor and its interactions with other proteins, the GATA1 protein regulates the growth and division (proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) and helps with their differentiation.  GATA1 gene mutations disrupt the protein's ability to bind with DNA or interact with other proteins. These impairments in the GATA1 protein's normal function result in an increased proliferation of megakaryocytes and a decrease in mature platelets, leading to abnormal bleeding. An abnormal GATA1 protein causes immature red blood cells to undergo a form of programmed cell death called apoptosis. A lack of immature red blood cells results in decreased amounts of specialized, mature red blood cells, leading to anemia. The severity of dyserythropoietic anemia and thrombocytopenia can usually be predicted by the type of GATA1 gene mutation.  When the two blood disorders dyserythropoietic anemia and thrombocytopenia occur separately, each of the conditions can result from many different factors. The occurrence of these disorders together is characteristic of mutations in the GATA1 gene.