Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the genetic changes related to spinocerebellar ataxia type 36 ?
Answer: SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the cerebellum. This protein is one part (subunit) of the ribonucleoprotein complex, which is composed of proteins and molecules of RNA, DNA's chemical cousin. The ribonucleoprotein complex is needed to make cellular structures called ribosomes, which process the cell's genetic instructions to create proteins. The NOP56 gene mutations that cause SCA36 involve a string of six DNA building blocks (nucleotides) located in an area of the gene known as intron 1. This string of six nucleotides (known as a hexanucleotide) is represented by the letters GGCCTG and normally appears multiple times in a row. In healthy individuals, GGCCTG is repeated 3 to 14 times within the gene. In people with SCA36, GGCCTG is repeated at least 650 times. It is unclear if 15 to 649 repeats of this hexanucleotide cause any signs or symptoms. To make proteins from the genetic instructions carried in genes, a molecule called messenger RNA (mRNA) is formed. This molecule acts as a genetic blueprint for protein production. However, a large increase in the number of GGCCTG repeats in the NOP56 gene disrupts the normal structure of NOP56 mRNA. Abnormal NOP56 mRNA molecules form clumps called RNA foci within the nucleus of neurons. Other proteins become trapped in the RNA foci, where they cannot function. These proteins may be important for controlling gene activity or protein production. Additionally, researchers believe that the large expansion of the hexanucleotide repeat in the NOP56 gene may reduce the activity of a nearby gene called MIR1292. The MIR1292 gene provides instructions for making a type of RNA that regulates the activity (expression) of genes that produce proteins called glutamate receptors. These proteins are found on the surface of neurons and allow these cells to communicate with one another. A decrease in the production of Mir1292 RNA can lead to an increase in the production of glutamate receptors. The increased receptor activity may overexcite neurons, which disrupts normal communication between cells and can contribute to ataxia. The combination of RNA foci and overly excited neurons likely leads to the death of these cells over time. Because the NOP56 gene is especially active in neurons in the cerebellum, these cells are particularly affected by expansion of the gene, leading to cerebellar atrophy. Deterioration in this part of the brain leads to ataxia and the other signs and symptoms of SCA36.
Question: Is spinocerebellar ataxia type 36 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. In conditions that are caused by repeated segments of DNA, the number of repeats often increases when the altered gene is passed down from one generation to the next. Additionally, a larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Some families affected by SCA36 have demonstrated anticipation while others have not. When anticipation is observed in SCA36, the mutation is most often passed down from the affected father.
Question: What are the treatments for spinocerebellar ataxia type 36 ?
Answer: These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia - Gene Review: Gene Review: Spinocerebellar Ataxia Type 36 - Genetic Testing Registry: Spinocerebellar ataxia 36 - Johns Hopkins Medicine: Ataxia - The Ataxia Center at the University of Chicago: Autosomal Dominant Spinocerebellar Ataxia 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) Laing distal myopathy ?
Answer: Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors. In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.
Question: How many people are affected by Laing distal myopathy ?
Answer: Although Laing distal myopathy is thought to be rare, its prevalence is unknown. Several families with the condition have been identified worldwide.
Question: What are the genetic changes related to Laing distal myopathy ?
Answer: Mutations in the MYH7 gene cause Laing distal myopathy. The MYH7 gene provides instructions for making a protein that is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers. In cardiac and skeletal muscle cells, the protein produced from the MYH7 gene forms part of a larger protein called type II myosin. This type of myosin generates the mechanical force that is needed for muscles to contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body. The coordinated contraction and relaxation of skeletal muscles allow the body to move. It is unknown how mutations in the MYH7 gene cause progressive muscle weakness in people with Laing distal myopathy. Researchers have proposed that these mutations alter the structure of myosin in skeletal muscles, which prevents it from interacting with other proteins. The abnormal myosin gradually impairs the function of type I skeletal muscle fibers. In most people with Laing distal myopathy, the signs and symptoms of the disorder are limited to weakness of skeletal muscles. Although myosin made with the MYH7 protein is also found in cardiac muscle, it is unclear why heart problems are not a typical feature of this condition.
Question: Is Laing distal myopathy 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 inherits the mutation from one affected parent. A small percentage of cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Question: What are the treatments for Laing distal myopathy ?
Answer: These resources address the diagnosis or management of Laing distal myopathy: - Gene Review: Gene Review: Laing Distal Myopathy - Genetic Testing Registry: Myopathy, distal, 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) Graves disease ?
Answer: Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. In people with Graves disease, the thyroid is overactive and makes more hormones than the body needs. The condition usually appears in mid-adulthood, although it may occur at any age. Excess thyroid hormones can cause a variety of signs and symptoms. These include nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular heartbeat, hand tremors, frequent bowel movements or diarrhea, increased sweating and difficulty tolerating hot conditions, trouble sleeping, and weight loss in spite of an increased appetite. Affected women may have menstrual irregularities, such as an unusually light menstrual flow and infrequent periods. Some people with Graves disease develop an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. Between 25 and 50 percent of people with Graves disease have eye abnormalities, which are known as Graves ophthalmopathy. These eye problems can include swelling and inflammation, redness, dryness, puffy eyelids, and a gritty sensation like having sand or dirt in the eyes. Some people develop bulging of the eyes caused by inflammation of tissues behind the eyeball and "pulling back" (retraction) of the eyelids. Rarely, affected individuals have more serious eye problems, such as pain, double vision, and pinching (compression) of the optic nerve connecting the eye and the brain, which can cause vision loss. A small percentage of people with Graves disease develop a skin abnormality called pretibial myxedema or Graves dermopathy. This abnormality causes the skin on the front of the lower legs and the tops of the feet to become thick, lumpy, and red. It is not usually painful.
Question: How many people are affected by Graves disease ?
Answer: Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States.
Question: What are the genetic changes related to Graves disease ?
Answer: Graves disease is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Graves disease is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Graves disease, the immune system creates a protein (antibody) called thyroid-stimulating immunoglobulin (TSI). TSI signals the thyroid to increase its production of hormones abnormally. The resulting overactivity of the thyroid causes many of the signs and symptoms of Graves disease. Studies suggest that immune system abnormalities also underlie Graves ophthalmopathy and pretibial myxedema. People with Graves disease have an increased risk of developing other autoimmune disorders, including rheumatoid arthritis, pernicious anemia, systemic lupus erythematosus, Addison disease, celiac disease, type 1 diabetes, and vitiligo. Variations in many genes have been studied as possible risk factors for Graves disease. Some of these genes are part of a family 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). Other genes that have been associated with Graves disease help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition. Other, nongenetic factors are also believed to play a role in Graves disease. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral or bacterial infections, certain medications, and having too much or too little iodine (a substance critical for thyroid hormone production). Smoking increases the risk of eye problems and is associated with more severe eye abnormalities in people with Graves disease.
Question: Is Graves disease inherited ?
Answer: The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing the condition.
Question: What are the treatments for Graves disease ?
Answer: These resources address the diagnosis or management of Graves disease: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Graves disease 2 - Genetic Testing Registry: Graves disease 3 - Genetic Testing Registry: Graves disease, susceptibility to, X-linked 1 - Genetic Testing Registry: Graves' disease - Graves' Disease & Thyroid Foundation: Treatment Options - MedlinePlus Encyclopedia: TSI - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests - Thyroid Disease Manager: Diagnosis and Treatment of Graves Disease 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) acral peeling skin syndrome ?
Answer: Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.
Question: How many people are affected by acral peeling skin syndrome ?
Answer: Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed.
Question: What are the genetic changes related to acral peeling skin syndrome ?
Answer: Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment. TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of this protein. A shortage of transglutaminase 5 weakens the cornified cell envelope, which allows the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet probably because those areas tend to be heavily exposed to moisture and friction.
Question: Is acral peeling skin 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 typically do not show signs and symptoms of the condition.
Question: What are the treatments for acral peeling skin syndrome ?
Answer: These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type 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) Marfan syndrome ?
Answer: Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition. The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood.
Question: How many people are affected by Marfan syndrome ?
Answer: The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide.
Question: What are the genetic changes related to Marfan syndrome ?
Answer: Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues.
Question: Is Marfan 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. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.
Question: What are the treatments for Marfan syndrome ?
Answer: These resources address the diagnosis or management of Marfan syndrome: - Gene Review: Gene Review: Marfan Syndrome - Genetic Testing Registry: Marfan syndrome - MarfanDX - MedlinePlus Encyclopedia: Aortic Dissection - MedlinePlus Encyclopedia: Marfan Syndrome - MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm - National Marfan Foundation: 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
Question: What is (are) optic atrophy type 1 ?
Answer: Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly. People with optic atrophy type 1 frequently have problems with color vision that make it difficult or impossible to distinguish between shades of blue and green. Other vision problems associated with this condition include a progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the nerve that relays visual information from the eye to the brain (optic nerve). Optic nerve pallor can be detected during an eye examination.
Question: How many people are affected by optic atrophy type 1 ?
Answer: Optic atrophy type 1 is estimated to affect 1 in 50,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people.