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[User] What is (are) Mitochondrial DNA-associated Leigh syndrome ?

[Assistant] Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.


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[User] How many people are affected by Li-Fraumeni syndrome ?

[Assistant] The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.


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[User] Who is at risk for Childhood Craniopharyngioma? ?

[Assistant] There are no known risk factors for childhood craniopharyngioma. Craniopharyngiomas are rare in children younger than 2 years of age and are most often diagnosed in children aged 5 to 14 years. It is not known what causes these tumors.


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[User] What are the symptoms of Cystic Fibrosis ?

[Assistant]
The signs and symptoms of cystic fibrosis (CF) vary from person to person and over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe.

One of the first signs of CF that parents may notice is that their baby's skin tastes salty when kissed, or the baby doesn't pass stool when first born.

Most of the other signs and symptoms of CF happen later. They're related to how CF affects the respiratory, digestive, or reproductive systems of the body.

Cystic Fibrosis

Respiratory System Signs and Symptoms

People who have CF have thick, sticky mucus that builds up in their airways. This buildup of mucus makes it easier for bacteria to grow and cause infections. Infections can block the airways and cause frequent coughing that brings up thick sputum (spit) or mucus that's sometimes bloody.

People who have CF tend to have lung infections caused by unusual germs that don't respond to standard antibiotics. For example, lung infections caused by bacteria called mucoid Pseudomonas are much more common in people who have CF than in those who don't. An infection caused by these bacteria may be a sign of CF.

People who have CF have frequent bouts of sinusitis (si-nu-SI-tis), an infection of the sinuses. The sinuses are hollow air spaces around the eyes, nose, and forehead. Frequent bouts of bronchitis (bron-KI-tis) and pneumonia (nu-MO-ne-ah) also can occur. These infections can cause long-term lung damage.

As CF gets worse, you may have more serious problems, such as pneumothorax (noo-mo-THOR-aks) or bronchiectasis (brong-ke-EK-ta-sis).

Some people who have CF also develop nasal polyps (growths in the nose) that may require surgery.

Digestive System Signs and Symptoms

In CF, mucus can block tubes, or ducts, in your pancreas (an organ in your abdomen). These blockages prevent enzymes from reaching your intestines.

As a result, your intestines can't fully absorb fats and proteins. This can cause ongoing diarrhea or bulky, foul-smelling, greasy stools. Intestinal blockages also may occur, especially in newborns. Too much gas or severe constipation in the intestines may cause stomach pain and discomfort.

A hallmark of CF in children is poor weight gain and growth. These children are unable to get enough nutrients from their food because of the lack of enzymes to help absorb fats and proteins.

As CF gets worse, other problems may occur, such as:

Pancreatitis (PAN-kre-ah-TI-tis). This is a condition in which the pancreas become inflamed, which causes pain.

Rectal prolapse. Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum.

Liver disease due to inflamed or blocked bile ducts.

Diabetes.

Gallstones.

Reproductive System Signs and Symptoms

Men who have CF are infertile because they're born without a vas deferens. The vas deferens is a tube that delivers sperm from the testes to the penis.

Women who have CF may have a hard time getting pregnant because of mucus blocking the cervix or other CF complications.

Other Signs, Symptoms, and Complications

Other signs and symptoms of CF are related to an upset of the balance of minerals in your blood.

CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. This can cause dehydration (a lack of fluid in your body), increased heart rate, fatigue (tiredness), weakness, decreased blood pressure, heat stroke, and, rarely, death.

CF also can cause clubbing and low bone density. Clubbing is the widening and rounding of the tips of your fingers and toes. This sign develops late in CF because your lungs aren't moving enough oxygen into your bloodstream.

Low bone density also tends to occur late in CF. It can lead to bone-thinning disorders called osteoporosis and osteopenia.


[System] The assistant is a factual and informative medical chatbot.

[User] Who is at risk for Glaucoma? ?

[Assistant] Encourage them to have a comprehensive dilated eye exam at least once every two years. Remember -- lowering eye pressure in glaucoma's early stages slows progression of the disease and helps save vision.  Get tips on finding an eye care professional.


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[User] What are the genetic changes related to rhizomelic chondrodysplasia punctata ?

[Assistant] Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3.  The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes. Peroxisomes are sac-like compartments within cells that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system.  Within peroxisomes, the proteins produced from the PEX7, GNPAT, and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell membranes throughout the body, although little is known about their function. Mutations in the PEX7, GNPAT, or AGPS genes prevent peroxisomes from making plasmalogens. Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata.


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[User] What are the treatments for Knee Replacement ?

[Assistant] Treatments your doctor will likely recommend before knee replacement include - exercises to strengthen the muscles around the knee and improve flexibility  - weight loss, if needed, to reduce the load the knee must bear   - walking aids such as canes to reduce stress on the joint   - shoe inserts to improve the knees alignment  - medicines to relieve pain.  exercises to strengthen the muscles around the knee and improve flexibility weight loss, if needed, to reduce the load the knee must bear walking aids such as canes to reduce stress on the joint shoe inserts to improve the knees alignment medicines to relieve pain.


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[User] Is Lynch syndrome inherited ?

[Assistant] Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.


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[User] What causes Mandibulofacial dysostosis with microcephaly ?

[Assistant] What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint for making proteins. Mutations in EFTUD2 impair the production or function of the enzyme from the gene, which impairs the processing of mRNA. However, at this time, it is not clear how this process causes the specific symptoms of MFDM.


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[User] What is (are) Porencephaly ?

[Assistant] Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.


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[User] What is (are) Von Hippel-Lindau disease ?

[Assistant] Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.


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[User] What is (are) Wiskott-Aldrich syndrome ?

[Assistant] Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males.  Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding following minor trauma.  Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune system, to be abnormal or nonfunctional, leading to an increased risk of several immune and inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-Aldrich syndrome.


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[User] What are the symptoms of Dystonia 3, torsion, X-linked ?

[Assistant] What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Chorea - Myoclonus - Parkinsonism with favorable response to dopaminergic medication - Torsion dystonia - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for glutathione synthetase deficiency ?

[Assistant] These resources address the diagnosis or management of glutathione synthetase deficiency:  - Baby's First Test  - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to  - Genetic Testing Registry: Gluthathione synthetase 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


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[User] What is (are) Bronchiolitis obliterans ?

[Assistant] Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants. This leads to extensive scarring that blocks the airways, leading to a dry cough, shortness of breath, fatigue and wheezing in the absence of a cold or asthma. While there is no way to reverse the disease, treatments are available to stabilize or slow the progression.   Another similarly named disease, bronchiolitis obliterans organizing pneumonia, is a completely different disease.


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[User] Do you have information about Bone Grafts

[Assistant] Summary : A bone graft transplants bone tissue. Surgeons use bone grafts to repair and rebuild diseased bones in your hips, knees, spine, and sometimes other bones and joints. Grafts can also repair bone loss caused by some types of fractures or cancers. Once your body accepts the bone graft, it provides a framework for growth of new, living bone.    If the transplanted bone comes from another person, it is called an allograft. Most allograft bone comes from donors who have died. Tissue banks screen these donors and disinfect and test the donated bone to make sure it is safe to use. If the transplanted bone comes from another part of your own body, it is called an autograft. Autograft bone often comes from your ribs, hips or a leg.


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[User] What is (are) Parkinson disease ?

[Assistant] Parkinson disease belongs to a group of conditions called movement disorders. The four main symptoms are tremor, or trembling in hands, arms, legs, jaw, or head; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance. These symptoms usually begin gradually and worsen with time.  As they become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks.  Not everyone with one or more of these symptoms has Parkinson disease, as the symptoms sometimes appear in other diseases as well. Parkinson disease affects about 1 to 2 percent of people over the age of 60 years and the chance of developing Parkinson disease increases as we age. Although some Parkinson disease cases appear to be hereditary most cases are sporadic and occur in people with no apparent history of the disorder in their family. When three or more people are affected in a family, especially if they are diagnosed at an early age (under 50 years)  there may be a gene making this family more likely to develop the condition. Currently, seven genes that cause some form of Parkinson's disease have been identified. Mutations (changes) in three known genes called SNCA (PARK1),UCHL1 (PARK 5), and LRRK2 (PARK8) and another mapped gene (PARK3) have been reported in families with dominant inheritance. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6) have been found in affected individuals who had siblings with the condition but whose parents did not have Parkinson's disease (recessive inheritance). There is some research to suggest that these genes are also involved in early-onset Parkinson's disease (diagnosed before the age of 30) or in dominantly inherited Parkinson's disease but it is too early yet to be certain. However, in most cases inheriting a mutation will not cause someone to develop Parkinson's disease because there may be additional genes and environmental factors determining who will get the condition, when they get it and how it affects them.


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[User] What is (are) Cushing disease ?

[Assistant] Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems. Patients also have an increased risk of infections, high blood pressure and diabetes. Women may have irregular menses and a lot of hair in the body (hirsutism). Cushing disease occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. The genetic cause of Cushing disease is often unknown but some cases are caused by somatic mutations in genes involved in hormonal activity. Most cases occur sporadically in people with no family history of the condition. Rarely, Cushing disease can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenoma). Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels.


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[User] How to diagnose Gallstones ?

[Assistant]
A health care provider will usually order an ultrasound exam to diagnose gallstones. Other imaging tests may also be used.

- Ultrasound exam. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care providers offi ce, outpatient center, or hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. Anesthesia is not needed. If gallstones are present, they will be visible in the image. Ultrasound is the most accurate method to detect gallstones.  - Computerized tomography (CT) scan. A CT scan is an x ray that produces pictures of the body. A CT scan may include the injection of a special dye, called contrast medium. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. An x-ray technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. CT scans can show gallstones or complications, such as infection and blockage of the gallbladder or bile ducts. However, CT scans can miss gallstones that are present.  - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed, though people with a fear of confi ned spaces may receive light sedation. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines allow the person to lie in a more open space. MRIs can show gallstones in the ducts of the biliary system.  - Cholescintigraphy. Cholescintigraphyalso called a hydroxyl iminodiacetic acid scan, HIDA scan, or hepatobiliary scanuses an unharmful radioactive material to produce pictures of the biliary system. In cholescintigraphy, the person lies on an exam table and a health care provider injects a small amount of unharmful radioactive material into a vein in the persons arm. The health care provider may also inject a substance that causes the gallbladder to contract. A special camera takes pictures of the radioactive material as it moves through the biliary system. A specially trained technician performs the procedure in an outpatient center or hospital, and a radiologist interprets the images. Anesthesia is not needed. Cholescintigraphy is used to diagnose abnormal contractions of the gallbladder or obstruction of the bile ducts.   - Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an x ray to look into the bile and pancreatic ducts. After lightly sedating the person, the health care provider inserts an endoscopea small,  flexible tube with a light and a camera on the endthrough the mouth into the duodenum and bile ducts. The endoscope is connected to a computer and video monitor. The health care provider injects contrast medium through the tube into the bile ducts, which makes the ducts show up on the monitor. The health care provider performs the procedure in an outpatient center or hospital. ERCP helps the health care provider locate the affected bile duct and the gallstone. The stone is captured in a tiny basket attached to the endoscope and removed. This test is more invasive than other tests and is used selectively.

Health care providers also use blood tests to look for signs of infection or in flammation of the bile ducts, gallbladder, pancreas, or liver. A blood test involves drawing blood at a health care providers offi ce or commercial facility and sending the sample to a lab for analysis.

Gallstone symptoms may be similar to those of other conditions, such as appendicitis, ulcers, pancreatitis, and gastroesophageal refl ux disease.

Sometimes, silent gallstones are found when a person does not have any symptoms. For example, a health care provider may notice gallstones when performing ultrasound for a different reason.


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[User] What are the symptoms of Moyamoya disease ?

[Assistant] What are the signs and symptoms of Moyamoya disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Moyamoya disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 50% Cognitive impairment 50% Seizures 50% Ventriculomegaly 50% Autosomal recessive inheritance - Inflammatory arteriopathy - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Shingles ?

[Assistant] Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox  the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that some of the virus particles from the original exposure to the varicella-zoster virus,leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin. The viruses multiply, the tell-tale rash erupts, and the person now has shingles.


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[User] Is Pontocerebellar hypoplasia type 1 inherited ?

[Assistant] How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated 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. This means that parents who are carriers of this condition have a 25% chance of having an affected child.


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[User] What is (are) Progressive myoclonic epilepsy ?

[Assistant] Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.


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[User] What is (are) anencephaly ?

[Assistant] Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.  Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.  Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.


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[User] How many people are affected by Mowat-Wilson syndrome ?

[Assistant] The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature.


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[User] What are the treatments for succinate-CoA ligase deficiency ?

[Assistant] These resources address the diagnosis or management of succinate-CoA ligase deficiency:  - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria  - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)  - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)  - MedlinePlus Encyclopedia: Hypotonia  - MedlinePlus Encyclopedia: Lactic Acidosis   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


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[User] What are the treatments for Pili torti ?

[Assistant] Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig.


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[User] How many people are affected by warfarin resistance ?

[Assistant] Warfarin resistance is thought to be a rare condition, although its prevalence is unknown.


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[User] What are the genetic changes related to chronic atrial and intestinal dysrhythmia ?

[Assistant] 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.


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[User] What are the symptoms of Waardenburg syndrome type 2 ?

[Assistant] What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for osteoporosis-pseudoglioma syndrome ?

[Assistant] These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome:  - Genetic Testing Registry: Osteoporosis with pseudoglioma  - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis  - MedlinePlus Encyclopedia: Bone Mineral Density Test  - Merck Manual Home Health Edition: Osteoporosis   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


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[User] What is (are) holocarboxylase synthetase deficiency ?

[Assistant] Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.  The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.


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[User] How many people are affected by 18q deletion syndrome ?

[Assistant] 18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds.


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[User] What are the stages of Skin Cancer ?

[Assistant]
Key Points
                    - After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.     - There are three ways that cancer spreads in the body.    - Cancer may spread from where it began to other parts of the body.    - Staging of nonmelanoma skin cancer depends on whether the tumor has certain "high-risk" features and if the tumor is on the eyelid.    - The following stages are used for nonmelanoma skin cancer that is not on the eyelid:         - Stage 0 (Carcinoma in Situ)     - Stage I Stage I nonmelanoma skin cancer. The tumor is no more than 2 centimeters.     - Stage II Stage II nonmelanoma skin cancer. The tumor is more than 2 centimeters wide.     - Stage III     - Stage IV        - The following stages are used for nonmelanoma skin cancer on the eyelid:         - Stage 0 (Carcinoma in Situ)     - Stage I      - Stage II     - Stage III     - Stage IV        - Treatment is based on the type of nonmelanoma skin cancer or other skin condition diagnosed:         - Basal cell carcinoma     - Squamous cell carcinoma     - Actinic keratosis

                    After nonmelanoma skin cancer has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.
                    The process used to find out if cancer has spread within the skin or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment.    The following tests and procedures may be used in the staging process:         -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.    -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   Lymph node biopsy : For squamous cell carcinoma, the lymph nodes may be removed and checked to see if cancer has spread to them.

                    There are three ways that cancer spreads in the body.
                    Cancer can spread through tissue, the lymph system, and the blood:         - Tissue. The cancer spreads from where it began by growing into nearby areas.     - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body.     - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.

                    Cancer may spread from where it began to other parts of the body.
                    When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood.         - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body.    - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body.        The metastatic tumor is the same type of cancer as the primary tumor. For example, if skin cancer spreads to the lung, the cancer cells in the lung are actually skin cancer cells. The disease is metastatic skin cancer, not lung cancer.

                    Staging of nonmelanoma skin cancer depends on whether the tumor has certain "high-risk" features and if the tumor is on the eyelid.
                    Staging for nonmelanoma skin cancer that is on the eyelid is different from staging for nonmelanoma skin cancer that affects other parts of the body.     The following are high-risk features for nonmelanoma skin cancer that is not on the eyelid:         - The tumor is thicker than 2 millimeters.    - The tumor is described as Clark level IV (has spread into the lower layer of the dermis) or Clark level V (has spread into the layer of fat below the skin).    - The tumor has grown and spread along nerve pathways.    - The tumor began on an ear or on a lip that has hair on it.    - The tumor has cells that look very different from normal cells under a microscope.

                    The following stages are used for nonmelanoma skin cancer that is not on the eyelid:
                    Stage 0 (Carcinoma in Situ)     In stage 0, abnormal cells are found in the squamous cell or basal cell layer of the epidermis (topmost layer of the skin). These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ.        Stage I     In stage I, cancer has formed. The tumor is not larger than 2 centimeters at its widest point and may have one high-risk feature.       Stage II     In stage II, the tumor is either:            - larger than 2 centimeters at its widest point; or     - any size and has two or more high-risk features.              Stage III    In stage III:            - The tumor has spread to the jaw, eye socket, or side of the skull. Cancer may have spread to one lymph node on the same side of the body as the tumor. The lymph node is not larger than 3 centimeters.              or              - Cancer has spread to one lymph node on the same side of the body as the tumor. The lymph node is not larger than 3 centimeters and one of the following is true:                  - the tumor is not larger than 2 centimeters at its widest point and may have one high-risk feature; or       - the tumor is larger than 2 centimeters at its widest point; or       - the tumor is any size and has two or more high-risk features.                          Stage IV    In stage IV, one of the following is true:            - The tumor is any size and may have spread to the jaw, eye socket, or side of the skull. Cancer has spread to one lymph node on the same side of the body as the tumor and the affected node is larger than 3 centimeters but not larger than 6 centimeters, or cancer has spread to more than one lymph node on one or both sides of the body and the affected nodes are not larger than 6 centimeters; or     - The tumor is any size and may have spread to the jaw, eye socket, skull, spine, or ribs. Cancer has spread to one lymph node that is larger than 6 centimeters; or      - The tumor is any size and has spread to the base of the skull, spine, or ribs. Cancer may have spread to the lymph nodes; or     - Cancer has spread to other parts of the body, such as the lung.

                    The following stages are used for nonmelanoma skin cancer on the eyelid:
                    Stage 0 (Carcinoma in Situ)    In stage 0, abnormal cells are found in the epidermis (topmost layer of the skin). These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ.       Stage I      Stage I is divided into stages IA, IB, and IC.            -  Stage IA: The tumor is 5 millimeters or smaller and has not spread to the connective tissue of the eyelid or to the edge of the eyelid where the lashes are.      -  Stage IB: The tumor is larger than 5 millimeters but not larger than 10 millimeters or has spread to the connective tissue of the eyelid, or to the edge of the eyelid where the lashes are.     -  Stage IC: The tumor is larger than 10 millimeters but not larger than 20 millimeters or has spread through the full thickness of the eyelid.              Stage II    In stage II, one of the following is true:            - The tumor is larger than 20 millimeters.     - The tumor has spread to nearby parts of the eye or eye socket.     - The tumor has spread to spaces around the nerves in the eyelid.              Stage III     Stage III is divided into stages IIIA, IIIB, and IIIC.            -  Stage IIIA: To remove all of the tumor, the whole eye and part of the optic nerve must be removed. The bone, muscles, fat, and connective tissue around the eye may also be removed.     -  Stage IIIB: The tumor may be anywhere in or near the eye and has spread to nearby lymph nodes.     -  Stage IIIC: The tumor has spread to structures around the eye or in the face, or to the brain, and cannot be removed in surgery.              Stage IV    The tumor has spread to distant parts of the body.

                    Treatment is based on the type of nonmelanoma skin cancer or other skin condition diagnosed:
                    Basal cell carcinoma      Basal cell carcinoma is the most common type of skin cancer. It usually occurs on areas of the skin that have been in the sun, most often the nose. Often this cancer appears as a raised bump that looks smooth and pearly. Another type looks like a scar and is flat and firm and may be white, yellow, or waxy. Basal cell carcinoma may spread to tissues around the cancer, but it usually does not spread to other parts of the body.       Squamous cell carcinoma      Squamous cell carcinoma occurs on areas of the skin that have been in the sun, such as the ears, lower lip, and the back of the hands. Squamous cell carcinoma may also appear on areas of the skin that have been burned or exposed to chemicals or radiation. Often this cancer appears as a firm red bump. The tumor may feel scaly, bleed, or form a crust. Squamous cell tumors may spread to nearby lymph nodes. Squamous cell carcinoma that has not spread can usually be cured.       Actinic keratosis     Actinic keratosis is a skin condition that is not cancer, but sometimes changes into squamous cell carcinoma. It usually occurs in areas that have been exposed to the sun, such as the face, the back of the hands, and the lower lip. It looks like rough, red, pink, or brown scaly patches on the skin that may be flat or raised, or the lower lip cracks and peels and is not helped by lip balm or petroleum jelly.


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[User] What is (are) Breast Cancer ?

[Assistant] Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include       - Age - the chance of getting breast cancer rises as a woman gets older     - Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. Women who have family members with breast or ovarian cancer may wish to be tested.     - Personal factors - beginning periods before age 12 or going through menopause after age 55       Other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts.    Symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. Breast self-exam and mammography can help find breast cancer early when it is most treatable. Treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy.    Men can have breast cancer, too, but the number of cases is small.    NIH: National Cancer Institute


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[User] How many people are affected by phosphoribosylpyrophosphate synthetase superactivity ?

[Assistant] PRS superactivity is believed to be a rare disorder. Approximately 30 families with the condition have been reported. More than two thirds of these families are affected by the milder form of the disease.


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[User] What is (are) globozoospermia ?

[Assistant] Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).  Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.


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[User] What are the treatments for Weaver syndrome ?

[Assistant] These resources address the diagnosis or management of Weaver syndrome:  - Genetic Testing Registry: Weaver 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


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[User] Is laryngo-onycho-cutaneous syndrome inherited ?

[Assistant] 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.


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[User] What are the symptoms of Dermatoosteolysis Kirghizian type ?

[Assistant] What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for hystrix-like ichthyosis with deafness ?

[Assistant] These resources address the diagnosis or management of hystrix-like ichthyosis with deafness:  - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix  - Genetic Testing Registry: Hystrix-like ichthyosis with deafness   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


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[User] What are the treatments for antiphospholipid syndrome ?

[Assistant] These resources address the diagnosis or management of antiphospholipid syndrome:  - Genetic Testing Registry: Antiphospholipid syndrome  - Hughes Syndrome Foundation: Diagnosis: How To Get Tested  - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information  - National Heart Lung and Blood Institute: How Is Antiphospholipid Antibody Syndrome 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


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[User] What are the treatments for Nonalcoholic Steatohepatitis ?

[Assistant]
Currently, no specific therapies for NASH exist. The most important recommendations given to persons with this disease are to

- reduce their weight (if obese or overweight)  - follow a balanced and healthy diet  - increase physical activity  - avoid alcohol  - avoid unnecessary medications

These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol.

A major attempt should be made to lower body weight into the healthy range. Weight loss can improve liver tests in patients with NASH and may reverse the disease to some extent. Research at present is focusing on how much weight loss improves the liver in patients with NASH and whether this improvement lasts over a period of time.

People with NASH often have other medical conditions, such as diabetes, high blood pressure, or elevated cholesterol. These conditions should be treated with medication and adequately controlled; having NASH or elevated liver enzymes should not lead people to avoid treating these other conditions.

Experimental approaches under evaluation in patients with NASH include antioxidants, such as vitamin E, selenium, and betaine. These medications act by reducing the oxidative stress that appears to increase inside the liver in patients with NASH. Whether these substances actually help treat the disease is not known, but the results of clinical trials should become available in the next few years.

Another experimental approach to treating NASH is the use of newer antidiabetic medicationseven in persons without diabetes. Most patients with NASH have insulin resistance, meaning that the insulin normally present in the bloodstream is less effective for them in controlling blood glucose and fatty acids in the blood than it is for people who do not have NASH. The newer antidiabetic medications make the body more sensitive to insulin and may help reduce liver injury in patients with NASH. Studies of these medicationsincluding metformin, rosiglitazone, and pioglitazoneare being sponsored by the National Institutes of Health and should answer the question of whether these medications are beneficial in NASH.


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[User] What are the treatments for Crouzon syndrome ?

[Assistant] These resources address the diagnosis or management of Crouzon syndrome:  - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes  - Genetic Testing Registry: Crouzon syndrome  - MedlinePlus Encyclopedia: Craniosynostosis   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


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[User] What are the treatments for Inflammatory Myopathies ?

[Assistant] The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs.


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[User] How many people are affected by ataxia with vitamin E deficiency ?

[Assistant] Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.


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[User] What is (are) Hereditary lymphedema type II ?

[Assistant] Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of hereditary lymphedema type II is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.


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[User] What causes Phacomatosis pigmentovascularis ?

[Assistant] What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.


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[User] Is Robinow syndrome inherited ?

[Assistant] How is Robinow syndrome inherited? Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically are unaffected. When two carriers of AR Robinow syndrome have children together, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not a carrier. Autosomal dominant (AD) inheritance means that having only one mutated copy of the responsible gene in each cell is enough to cause features of the condition. Some people with AD Robinow syndrome inherit the mutated gene from an affected parent. In other cases, the mutation that causes the condition occurs for the first time in the affected person. When a person with AD Robinow syndrome has children, each child has a 50% chance to inherit the mutated gene.


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[User] How many people are affected by McLeod neuroacanthocytosis syndrome ?

[Assistant] McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide.


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[User] What is (are) Congenital disorders of glycosylation ?

[Assistant] Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.


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[User] What are the symptoms of IgA Nephropathy ?

[Assistant]
In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. Once symptoms appear, the most common one is hematuria, or blood in the urine. Hematuria can be a sign of damaged glomeruli. Blood in the urine may appear during or soon after a cold, sore throat, or other respiratory infection. The amount of blood may be

- visible with the naked eye. The urine may turn pink or the color of tea or cola. Sometimes a person may have dark or bloody urine.  - so small that it can only be detected using special medical tests.

Another symptom of IgA nephropathy is albuminuriawhen a persons urine contains an increased amount of albumin, a protein typically found in the blood, or large amounts of protein in the urine. Albumin is the main protein in the blood. Healthy kidneys keep most proteins in the blood from leaking into the urine. However, when the glomeruli are damaged, large amounts of protein leak out of the blood into the urine.

When albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body. Too much fluid in the body may cause edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face. Foamy urine is another sign of albuminuria. Some people with IgA nephropathy have both hematuria and albuminuria.

After 10 to 20 years with IgA nephropathy, about 20 to 40 percent of adults develop end-stage kidney disease.5 Signs and symptoms of end-stage kidney disease may include

- high blood pressure  - little or no urination  - edema  - feeling tired  - drowsiness  - generalized itching or numbness  - dry skin  - headaches  - weight loss  - appetite loss  - nausea  - vomiting  - sleep problems  - trouble concentrating  - darkened skin  - muscle cramps


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[User] what research (or clinical trials) is being done for Olivopontocerebellar Atrophy ?

[Assistant] The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. There has been great progress recently since the genes for several of the hereditary forms of OPCA have been found.


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[User] What are the treatments for Gerstmann-Straussler-Scheinker disease ?

[Assistant] How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource.


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[User] What are the treatments for Tangier disease ?

[Assistant] These resources address the diagnosis or management of Tangier disease:  - Genetic Testing Registry: Tangier 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


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[User] How to diagnose Mondini dysplasia ?

[Assistant] Is genetic testing available for Mondini dysplasia? Genetic testing may be available for Mondini dysplasia if it is associated with a specific syndrome for which genetic testing is available, or if a mutation has previously been identified in an affected individual in the family. Unfortunately, for many cases of isolated Mondini dysplasia, there is no clinical genetic testing available. GeneTests lists the names of laboratories that are performing genetic testing for many conditions that may be associated with Mondini dysplasia. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.


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[User] What causes Balance Problems ?

[Assistant] Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. Upper respiratory infections, other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other balance disorders may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure also can cause dizziness. Aging, infections, head injury, and many medicines may also result in a balance problem.


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[User] What is (are) Diverticulosis and Diverticulitis ?

[Assistant] Diverticula are small pouches that bulge outward through the colon, or large intestine. If you have these pouches, you have a condition called diverticulosis. It becomes more common as people age. About half of all people over age 60 have it. Doctors believe the main cause is a low-fiber diet.    Most people with diverticulosis don't have symptoms. Sometimes it causes mild cramps, bloating or constipation. Diverticulosis is often found through tests ordered for something else. For example, it is often found during a colonoscopy to screen for cancer. A high-fiber diet and mild pain reliever will often relieve symptoms.    If the pouches become inflamed or infected, you have a condition called diverticulitis. The most common symptom is abdominal pain, usually on the left side. You may also have fever, nausea, vomiting, chills, cramping, and constipation. In serious cases, diverticulitis can lead to bleeding, tears, or blockages. Your doctor will do a physical exam and imaging tests to diagnose it. Treatment may include antibiotics, pain relievers, and a liquid diet. A serious case may require a hospital stay or surgery.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] How many people are affected by Crouzonodermoskeletal syndrome ?

[Assistant] Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million.


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[User] What is (are) dentatorubral-pallidoluysian atrophy ?

[Assistant] Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.  The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).


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[User] What is (are) Parenting ?

[Assistant] If you're a parent, you get plenty of suggestions on how to raise your child. From experts to other parents, people are always ready to offer advice. Parenting tips, parents' survival guides, dos, don'ts, shoulds and shouldn'ts - new ones come out daily.    The truth is there is more than one "right" way to be a good parent. Good parenting includes       - Keeping your child safe    - Showing affection and listening to your child    - Providing order and consistency    - Setting and enforcing limits    - Spending time with your child    - Monitoring your child's friendships and activities    - Leading by example       NIH: National Institute of Child Health and Human Development


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[User] How many people are affected by PDGFRA-associated chronic eosinophilic leukemia ?

[Assistant] PDGFRA-associated chronic eosinophilic leukemia is a rare condition; however, the exact prevalence is unknown.


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[User] What causes ARDS ?

[Assistant]
Many conditions or factors can directly or indirectly injure the lungs and lead to ARDS. Some common ones are:

Sepsis. This is a condition in which bacteria infect the bloodstream.

Pneumonia. This is an infection in the lungs.

Severe bleeding caused by an injury to the body.

An injury to the chest or head, like a severe blow.

Breathing in harmful fumes or smoke.

Inhaling vomited stomach contents from the mouth.

It's not clear why some very sick or seriously injured people develop ARDS and others don't. Researchers are trying to find out why ARDS develops and how to prevent it.


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[User] What are the genetic changes related to rheumatoid arthritis ?

[Assistant] Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown.  Rheumatoid arthritis 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 rheumatoid arthritis, the immune system triggers abnormal inflammation in the membrane that lines the joints (the synovium). When the synovium is inflamed, it causes pain, swelling, and stiffness of the joint. In severe cases, the inflammation also affects the bone, cartilage, and other tissues within the joint, causing more serious damage. Abnormal immune reactions also underlie the features of rheumatoid arthritis affecting other parts of the body.  Variations in dozens of genes have been studied as risk factors for rheumatoid arthritis. Most of these genes are known or suspected to be involved in immune system function. The most significant genetic risk factors for rheumatoid arthritis are variations in human leukocyte antigen (HLA) genes, especially the HLA-DRB1 gene. The proteins produced from HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Changes in other genes appear to have a smaller impact on a person's overall risk of developing the condition.  Other, nongenetic factors are also believed to play a role in rheumatoid arthritis. 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), occupational exposure to certain kinds of dust or fibers, and viral or bacterial infections. Long-term smoking is a well-established risk factor for developing rheumatoid arthritis; it is also associated with more severe signs and symptoms in people who have the disease.


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[User] What are the treatments for atelosteogenesis type 2 ?

[Assistant] These resources address the diagnosis or management of atelosteogenesis type 2:  - Gene Review: Gene Review: Atelosteogenesis Type 2  - Genetic Testing Registry: Atelosteogenesis type 2   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


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[User] What is (are) Milroy disease ?

[Assistant] Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time.  Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.


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[User] What are the symptoms of Xeroderma pigmentosum type 7 ?

[Assistant] What are the signs and symptoms of Xeroderma pigmentosum type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Xeroderma pigmentosum type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia 5% Cataract 5% Growth delay 5% Microcephaly 5% Microphthalmia 5% Pes cavus 5% Spasticity 5% Tremor 5% Autosomal recessive inheritance - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Spondylocostal dysostosis 2 ?

[Assistant] What are the signs and symptoms of Spondylocostal dysostosis 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Restrictive respiratory insufficiency 44% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Disproportionate short-trunk short stature - Recurrent respiratory infections - Rib fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Langerhans Cell Histiocytosis ?

[Assistant] These and other signs and symptoms may be caused by LCH or by other conditions. Check with your doctor if you or your child have any of the following:     Skin and nails    LCH in infants may affect the skin only. In some cases, skin-only LCH may get worse over weeks or months and become a form called high-risk multisystem LCH.     In infants, signs or symptoms of LCH that affects the skin may include:            -  Flaking of the scalp that may look like cradle cap.     - Raised, brown or purple skin rash anywhere on the body.            In children and adults, signs or symptoms of LCH that affects the skin and nails may include:            -  Flaking of the scalp that may look like dandruff.     -  Raised, red or brown, crusted rash in the groin area, abdomen, back, or chest, that may be itchy.     - Bumps or ulcers on the scalp.     - Ulcers behind the ears, under the breasts, or in the groin area.     - Fingernails that fall off or have discolored grooves that run the length of the nail.              Mouth    Signs or symptoms of LCH that affects the mouth may include:            - Swollen gums.     - Sores on the roof of the mouth, inside the cheeks, or on the tongue or lips.     - Teeth that become uneven.     - Tooth loss.              Bone    Signs or symptoms of LCH that affects the bone may include:            - Swelling or a lump over a bone, such as the skull, ribs, spine, thigh bone, upper arm bone, elbow, eye socket, or bones around the ear.     - Pain where there is swelling or a lump over a bone.           Children with LCH lesions in bones around the ears or eyes have a high risk for diabetes insipidus and other central nervous system disease.       Lymph nodes and thymus    Signs or symptoms of LCH that affects the lymph nodes or thymus may include:            - Swollen lymph nodes.     - Trouble breathing.     -  Superior vena cava syndrome. This can cause coughing, trouble breathing, and swelling of the face, neck, and upper arms.              Endocrine system     Signs or symptoms of LCH that affects the pituitary gland may include:            - Diabetes insipidus. This can cause a strong thirst and frequent urination.     - Slow growth.     - Early or late puberty.     - Being very overweight.           Signs or symptoms of LCH that affects the thyroid may include:            - Swollen thyroid gland.     -  Hypothyroidism. This can cause tiredness, lack of energy, being sensitive to cold, constipation, dry skin, thinning hair, memory problems, trouble concentrating, and depression. In infants, this can also cause a loss of appetite and choking on food. In children and adolescents, this can also cause behavior problems, weight gain, slow growth, and late puberty.     - Trouble breathing.              Central nervous system (CNS)    Signs or symptoms of LCH that affects the CNS (brain and spinal cord) may include:            - Loss of balance, uncoordinated body movements, and trouble walking.     - Trouble speaking.     - Trouble seeing.     - Headaches.     - Changes in behavior or personality.     - Memory problems.           These signs and symptoms may be caused by lesions in the CNS or by CNS neurodegenerative syndrome.       Liver and spleen    Signs or symptoms of LCH that affects the liver or spleen may include:            - Swelling in the abdomen caused by a buildup of extra fluid.     - Trouble breathing.     - Yellowing of the skin and whites of the eyes.     - Itching.     - Easy bruising or bleeding.     - Feeling very tired.              Lung    Signs or symptoms of LCH that affects the lung may include:            - Collapsed lung. This condition can cause chest pain or tightness, trouble breathing, feeling tired, and a bluish color to the skin.     - Trouble breathing, especially in adults who smoke.     - Dry cough.     - Chest pain.              Bone marrow    Signs or symptoms of LCH that affects the bone marrow may include:            - Easy bruising or bleeding.     -  Fever.     - Frequent infections.


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[User] Is Severe combined immunodeficiency inherited ?

[Assistant] How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes and males have one X chromosome and one Y chromosome. In males, one mutated copy of the responsible gene causes signs and symptoms of the condition because they don't have another X chromosome with a working copy of the gene. In females, having one mutated copy of the gene would make them an unaffected carrier; a mutation would have to occur in both copies of the gene to cause the condition. This is why X-linked recessive disorders, including X-linked SCID, occur much more frequently in males. Because fathers only pass their Y chromosome on to their sons, fathers cannot pass X-linked conditions on to their sons. The other, less common causes of SCID are inherited in an autosomal recessive manner. These types are due to mutations in responsible genes on other chromosomes (not the sex chromosomes). In autosomal recessive conditions, a person must have mutations in both copies of the responsible gene in order to have signs or symptoms of the condition. In most cases, the affected person inherits one mutated copy of the gene from each of the parents, who are typically unaffected carriers.


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[User] What causes Achondrogenesis ?

[Assistant] What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown.  The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. The COL2A1 gene provides instructions for making a protein that forms a type of collagen found mostly in cartilage and in the clear gel that fills the eyeball (vitreous).  Mutations in these genes result in the production of proteins that are unable to properly perform their jobs within the body.


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[User] What are the treatments for Geniospasm ?

[Assistant] How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.


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[User] What are the symptoms of Amyotonia congenita ?

[Assistant] What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] what research (or clinical trials) is being done for Locked-In Syndrome ?

[Assistant] The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.