question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
|---|---|---|---|---|
What are the genetic changes related to Guillain-Barr syndrome ? | Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system,... | [
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What is (are) Absence of the Septum Pellucidum ? | The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.. It is connected to the corpus callosum -- a collection of nerve fibers that connect the cerebral hemispherers. This rare abnormality accompanies various malformations of the b... | [
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What are the stages of Ovarian Germ Cell Tumors ? | Key Points
- After ovarian germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread within the ovary 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. -... | [
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How many people are affected by Roberts syndrome ? | Roberts syndrome is a rare disorder; approximately 150 affected individuals have been reported. | [
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How to diagnose Prolactinoma ? | A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other co... | [
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How to diagnose Renal Artery Stenosis ? | A health care provider can diagnose RAS by listening to the abdomen with a stethoscope and performing imaging tests. When blood flows through a narrow artery, it sometimes makes a whooshing sound, called a bruit. The health care provider may place a stethoscope on the front or the side of the abdomen to listen for this... | [
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Is Wolman disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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How to diagnose Mulibrey Nanism ? | Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratori... | [
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How many people are affected by ocular albinism ? | The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females. | [
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How many people are affected by Stormorken syndrome ? | Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature. | [
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How to prevent Mitral Valve Prolapse ? | You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it.
Complications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves.
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What is (are) Allan-Herndon-Dudley syndrome ? | Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to commun... | [
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What are the genetic changes related to 18q deletion syndrome ? | 18q deletion syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 18. This chromosomal change is written as 18q-. The size of the deletion and its location on the chromosome vary among affected individuals. The signs and symptoms of 18q deletion syndrome, including the leukodystroph... | [
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What are the treatments for Albright's hereditary osteodystrophy ? | How might Albright's hereditary osteodystrophy be treated? Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lo... | [
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What is (are) Michels syndrome ? | Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry,... | [
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What is the outlook for Neurological Sequelae Of Lupus ? | The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic ... | [
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What are the symptoms of Olivopontocerebellar atrophy deafness ? | What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | [
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What are the symptoms of Narcolepsy ? | The four major signs and symptoms of narcolepsy are extreme daytime sleepiness, cataplexy (muscle weakness) while awake, and hallucinations and sleep paralysis during sleep.
If you have narcolepsy, you may have one or more of these symptoms. They can range from mild to severe. Less than one-third of pe... | [
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How to diagnose Metabolic Syndrome ? | Your doctor will diagnose metabolic syndrome based on the results of a physical exam and blood tests. You must have at least three of the five metabolic risk factors to be diagnosed with metabolic syndrome.
Metabolic Risk Factors
A Large Waistline
Having a large waistl... | [
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What causes Erythromelalgia ? | What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that tra... | [
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What is (are) Lucey-Driscoll syndrome ? | Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break dow... | [
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How to diagnose Varicose Veins ? | Doctors often diagnose varicose veins based on a physical exam alone. Sometimes tests or procedures are used to find out the extent of the problem or to rule out other conditions.
Specialists Involved
If you have varicose veins, you may see a vascular medicine specialist or vascular su... | [
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How to prevent Hearing Loss ? | Researchers funded by the National Institutes of Health are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that you can hear certain sounds more clearly even when you are surrounded by background noise. They are also working to to improve co... | [
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Is pulmonary veno-occlusive disease inherited ? | When caused by mutations in the EIF2AK4 gene, PVOD 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 symptom... | [
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Do you have information about Exercise and Physical Fitness | Summary : Regular physical activity is one of the most important things you can do for your health. It can help - Control your weight - Lower your risk of heart disease - Lower your risk for type 2 diabetes and metabolic syndrome - Lower your risk of some cancers - Strengthen your bones and muscles ... | [
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What are the symptoms of Duane syndrome type 2 ? | What are the signs and symptoms of Duane syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane 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 D... | [
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What is the outlook for Kearns-Sayre Syndrome ? | KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great be... | [
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How to diagnose Kidney Stones in Children ? | The process of diagnosing any illness begins with consideration of the symptoms. Pain or bloody urine may be the first symptom. Urine, blood, and imaging tests will help determine whether symptoms are caused by a stone. Urine tests can be used to check for infection and for substances that form stones. Blood tests can ... | [
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How many people are affected by pantothenate kinase-associated neurodegeneration ? | The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide. | [
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What are the genetic changes related to Lesch-Nyhan syndrome ? | Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a pl... | [
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What are the genetic changes related to FG syndrome ? | Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chrom... | [
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What are the treatments for Hydranencephaly ? | There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another). | [
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What is (are) childhood myocerebrohepatopathy spectrum ? | Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few mo... | [
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What causes Amelogenesis imperfecta ? | What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material ... | [
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How many people are affected by spinocerebellar ataxia type 2 ? | The prevalence of SCA2 is unknown. This condition is estimated to be one of the most common types of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, particularly in the Holgun province, where approximately 40 per 100,000 individuals are affected. | [
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What is (are) Adult neuronal ceroid lipofuscinosis ? | Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic c... | [
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What are the symptoms of Peripheral Artery Disease ? | Many people who have peripheral artery disease (P.A.D.) dont have any signs or symptoms.
Even if you don't have signs or symptoms, ask your doctor whether you should get checked for P.A.D. if you're:
Aged 70 or older
Aged 50 or older and have a history of smoking or di... | [
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What is the outlook for Guillain-Barr Syndrome ? | Guillain-Barr syndrome can be a devastating disorder because of its sudden and unexpected onset. Most people reach the stage of greatest weakness within the first 2 weeks after symptoms appear, and by the third week of the illness 90 percent of all patients are at their weakest. The recovery period may be as little as ... | [
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How to prevent Omsk Hemorrhagic Fever (OHF) ? | There is no vaccine currently available for OHF, but vaccines for tick-borne encephalitis disease (TBE) have been shown to confer some immunity and may be used for high-risk groups.
Additionally, utilizing insect repellents and wearing protective clothing in areas where ticks are endemic is recommende... | [
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What is (are) Chronic Fatigue Syndrome (CFS) ? | Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they we... | [
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What are the symptoms of Pfeiffer Mayer syndrome ? | What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer syndrome. 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 Medic... | [
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What is (are) Anemia in Chronic Kidney Disease ? | The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine.
Healthy kidneys produce a hormone called erythropoietin... | [
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Is Partington syndrome inherited ? | Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes... | [
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What is (are) Popliteal pterygium syndrome ? | Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some... | [
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What are the treatments for Sickle Cell Disease ? | Health Maintenance To Prevent Complications
Babies with sickle cell disease (SCD) should be referred to a doctor or provider group that has experience taking care of people with this disease. The doctor might be a hematologist (a doctor with special training in blood diseases) or an experienced general... | [
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What is (are) Non-A-E hepatitis ? | Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen,... | [
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How to diagnose Rheumatic Fever ? | How is rheumatic fever diagnosed? A diagnosis of rheumatic fever is usually based on the following: Characteristic signs and symptoms identified by physical examination and/or specialized testing such as a blood test, chest X-ray and echocardiogram Confirmation of group A Streptococcus bacterial infection with a throat... | [
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What are the symptoms of Ulna metaphyseal dysplasia syndrome ? | What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What to do for Whipple Disease ? | A person with Whipple disease and malabsorption may need
- a diet high in calories and protein - vitamins - nutritional supplements | [
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What causes Weill-Marchesani syndrome ? | What causes Weill-Marchesani syndrome? Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2. | [
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What are the treatments for Thalassemia ? | How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron fr... | [
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What is the outlook for Metachromatic Leukodystrophy ? | The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms. | [
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How many people are affected by congenital dyserythropoietic anemia ? | Several hundred cases of CDA have been reported worldwide. CDA type II is the most common form of the disorder, with more than 300 reported cases. CDA type III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. The incidence of CDA type I is unknown. Because ... | [
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What is (are) Bursitis ? | A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. It usually occurs at the knee or elbow. Kneeling or leaning y... | [
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What are the symptoms of Congenital toxoplasmosis ? | What are the signs and symptoms of Congenital toxoplasmosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital toxoplasmosis. 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 Med... | [
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Is Brachydactyly type B inherited ? | How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this con... | [
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How many people are affected by spondylocostal dysostosis ? | Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown. | [
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How to diagnose Diverticular Disease ? | Diverticulosis
Health care providers often find diverticulosis during a routine x ray or a colonoscopy, a test used to look inside the rectum and entire colon to screen for colon cancer or polyps or to evaluate the source of rectal bleeding.
Diverticular Disease
Based ... | [
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What are the symptoms of Triple A syndrome ? | What are the signs and symptoms of Triple A syndrome? Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from... | [
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What are the symptoms of Coronary Heart Disease ? | A common symptom of coronary heart disease (CHD) is angina. Angina is chest pain or discomfort that occurs if an area of your heart muscle doesn't get enough oxygen-rich blood.
Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. An... | [
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What is (are) renal hypouricemia ? | Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of uric acid in the blood. Uric acid is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. Howe... | [
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What are the genetic changes related to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? | MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mi... | [
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What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding t... | [
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What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? | What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. If the information is available, the table below includes how often the ... | [
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What is (are) leukocyte adhesion deficiency type 1 ? | Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from bir... | [
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What is (are) Branchiooculofacial syndrome ? | Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the... | [
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Is autosomal recessive congenital methemoglobinemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the treatments for trisomy 13 ? | These resources address the diagnosis or management of trisomy 13: - Genetic Testing Registry: Complete trisomy 13 syndrome - MedlinePlus Encyclopedia: Trisomy 13 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | [
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What is (are) Limited systemic sclerosis ? | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction whic... | [
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What are the genetic changes related to thrombotic thrombocytopenic purpura ? | Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thr... | [
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What is (are) task-specific focal dystonia ? | Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolle... | [
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How to diagnose Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? | Lab tests and imaging tests are used to detect (find) and diagnose pancreatic NETs.
The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else t... | [
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What is (are) Kidney Stones in Adults ? | The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each sid... | [
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What causes McCune Albright syndrome ? | What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that ... | [
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What are the treatments for Amyloidosis and Kidney Disease ? | A health care provider treats dialysis-related amyloidosis with
- medication therapy - newer, more effective hemodialysis filters - surgery - a kidney transplant
The goal of medication therapy and the use of newer, more effective hemodialysis filters is to reduce amyloid protein lev... | [
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Is mitochondrial complex III deficiency inherited ? | Mitochondrial complex III deficiency is usually 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 t... | [
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What are the treatments for spinocerebellar ataxia type 6 ? | These resources address the diagnosis or management of SCA6: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6 - Genetic Testing Registry: Spinocerebellar ataxia 6 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | [
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What are the treatments for Alzheimer's Disease ? | Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or... | [
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What are the genetic changes related to glycogen storage disease type VI ? | Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simp... | [
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What are the genetic changes related to congenital myasthenic syndrome ? | Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved i... | [
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What are the treatments for Roberts syndrome ? | These resources address the diagnosis or management of Roberts syndrome: - Gene Review: Gene Review: Roberts Syndrome - Genetic Testing Registry: Roberts-SC phocomelia syndrome - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer informa... | [
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What is the outlook for Generalized Gangliosidoses ? | Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections. | [
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what research (or clinical trials) is being done for Dystonias ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to dystonia in its laboratories at the National Institutes of Health (NIH) and also supports additional dystonia research through grants to major research institutions across the country. Scientists at other NIH Institutes (Na... | [
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What are the symptoms of Factor V Leiden thrombophilia ? | What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. Alth... | [
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What is (are) ornithine translocase deficiency ? | Ornithine translocase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine translocase defici... | [
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How many people are affected by MEGDEL syndrome ? | MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 affected individuals have been mentioned in the medical literature. | [
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What are the symptoms of Priapism ? | What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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 d... | [
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What is the outlook for Laryngeal Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the disease. - The location and size of the tumor. - The grade of the tumor. - The patient's age, gender, and general health, including whether the patien... | [
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Is Anencephaly inherited ? | Is anencephaly inherited? Most cases of anencephaly are sporadic, which means they occur in people with no family history of anencephaly or other neural tube defects (NTDs). In some cases, it may be associated with a chromosome abnormality, a severe malformation syndrome, or disruption of the amniotic membrane. A small... | [
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How many people are affected by hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. | [
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What causes Fibrolamellar carcinoma ? | What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; ... | [
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Is succinate-CoA ligase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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How to diagnose Childhood Brain Stem Glioma ? | Tests that examine the brain are used to detect (find) childhood brain stem glioma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A ... | [
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What is (are) Psoriasis ? | Psoriasis (sow RYE uh sis) is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. The body does not shed these excess ce... | [
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What is (are) Reye's Syndrome ? | Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a tw... | [
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What is (are) Diabetes ? | Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart di... | [
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What are the symptoms of Nephrotic Syndrome in Adults ? | In addition to proteinuria, hyperlipidemia, edema, and hypoalbumina, people with nephrotic syndrome may experience
- weight gain - fatigue - foamy urine - loss of appetite | [
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What are the symptoms of What I need to know about Kidney Stones ? | You may have a kidney stone if you
- have pain while urinating - see blood in your urine - feel a sharp pain in your back or lower abdomenthe area between your chest and hips
The pain may last for a short or long time. You may have nausea and vomiting with the pain.
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What is the outlook for Childhood Brain and Spinal Cord Tumors ? | Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - Whether there are any cancer cells left after surgery. - The type of tumor. - Where the tumor is in the body. - The child's age. - Whether the tumor has just been diagnosed or has re... | [
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What are the genetic changes related to intranuclear rod myopathy ? | Intranuclear rod myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made u... | [
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