question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
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What are the treatments for otopalatodigital syndrome type 1 ? | These resources address the diagnosis or management of otopalatodigital syndrome type 1: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type I These resources from MedlinePlus offer information about the diagnosis and management of various he... | [
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What is (are) Ectopic Kidney ? | 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 side of the spine. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quar... | [
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What are the treatments for Parasites - Ascariasis ? | Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects.
More on: Resources for Health Profess... | [
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What are the genetic changes related to pantothenate kinase-associated neurodegeneration ? | Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule cal... | [
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What causes Chandler's syndrome ? | What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition. Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surf... | [
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What is (are) Dystonia 8 ? | Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no k... | [
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What causes Tietze syndrome ? | What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition. | [
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Do you have information about Anabolic Steroids | Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases. Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. Using th... | [
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how common is infection with y. enterocolitica for Yersinia ? | Y. enterocolitica is a relatively infrequent cause of diarrhea and abdominal pain. Based on data from the Foodborne Diseases Active Surveillance Network (FoodNet), which measures the burden and sources of specific diseases over time, approximately one culture-confirmed Y. enterocolitica infection per 100,000 persons oc... | [
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What are the symptoms of His bundle tachycardia ? | What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. 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... | [
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What is (are) Congenital Heart Defects ? | Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve:
The interior walls of the heart
The valves inside the heart
The arteries and veins that carry blood to the heart or the body
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Is Oculopharyngeal muscular dystrophy inherited ? | How is oculopharyngeal muscular dystrophy inherited? | [
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What are the symptoms of Sabinas brittle hair syndrome ? | What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair 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 Medli... | [
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What are the symptoms of Coats disease ? | What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although a... | [
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What are the symptoms of X-linked visceral heterotaxy 1 ? | What are the signs and symptoms of X-linked visceral heterotaxy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked visceral heterotaxy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | [
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What is (are) capillary malformation-arteriovenous malformation syndrome ? | Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back t... | [
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What is (are) Donnai-Barrow syndrome ? | Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hai... | [
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What are the genetic changes related to Donnai-Barrow syndrome ? | Mutations in the LRP2 gene cause Donnai-Barrow syndrome. The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigge... | [
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What are the symptoms of Zlotogora syndrome ? | What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora 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 Medical Diction... | [
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What causes Achondroplasia ? | What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researc... | [
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What is (are) Creutzfeldt-Jakob disease ? | Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they c... | [
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What are the symptoms of Glioblastoma ? | What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures | [
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Who is at risk for ARDS? ? | People at risk for ARDS have a condition or illness that can directly or indirectly injure their lungs.
Direct Lung Injury
Conditions that can directly injure the lungs include:
Pneumonia. This is an infection in the lungs.
Breathing in harmful fumes o... | [
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What are the treatments for Mondini dysplasia ? | How might Mondini dysplasia be treated? Surgery to repair the defect present with Mondini dysplasia is typically necessary to prevent recurrent meningitis. Prophylactic antimicrobial therapy (such as antibiotics) to prevent infection and conjugate pneumococcal vaccination are helpful in reducing the formation of bacter... | [
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What are the genetic changes related to dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is caused by mutations in the DPYS gene, which provides instructions for making an enzyme called dihydropyrimidinase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The dihydropyrimidinase enzyme is i... | [
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What are the symptoms of Campomelia Cumming type ? | What are the signs and symptoms of Campomelia Cumming type? The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelia Cumming 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 Medic... | [
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Is type A insulin resistance syndrome inherited ? | Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one a... | [
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What is (are) maple syrup urine disease ? | Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and dev... | [
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Do you have information about Blood Sugar | Summary : Blood sugar, or glucose, is the main sugar found in your blood. It comes from the food you eat, and is your body's main source of energy. Your blood carries glucose to all of your body's cells to use for energy. Diabetes is a disease in which your blood sugar levels are too high. Over time, having too much... | [
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What are the treatments for Spinocerebellar ataxia 2 ? | How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and ... | [
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What is the outlook for Neurodegeneration with Brain Iron Accumulation ? | NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and... | [
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What are the symptoms of Pseudohypoparathyroidism type 2 ? | What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism 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 M... | [
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How many people are affected by myoclonic epilepsy myopathy sensory ataxia ? | The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown. | [
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What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. If the information is available, the table below includes how ofte... | [
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What are the genetic changes related to cholesteryl ester storage disease ? | Mutations in the LIPA gene cause cholesteryl ester storage disease. The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and trigl... | [
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Is tetra-amelia syndrome inherited ? | In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do... | [
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Do you have information about Cosmetic Dentistry | Summary : If you have stained, broken or uneven teeth, cosmetic dentistry can help. Cosmetic dentistry is different from orthodontic treatment, which can straighten your teeth with braces or other devices. Cosmetic dental procedures include - Bleaching to make teeth whiter - Repairing chips or rough spots w... | [
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Do you have information about Mercury | Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. Mercury is in many products. Metallic mercury is used in g... | [
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What is (are) Meningioma ? | Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if thei... | [
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What causes Bell's palsy ? | What causes Bell's palsy? | [
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What are the treatments for Birdshot chorioretinopathy ? | What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because bird... | [
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What is (are) Chiari Malformation ? | Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often ha... | [
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What are the genetic changes related to short-chain acyl-CoA dehydrogenase deficiency ? | Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During perio... | [
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What are the symptoms of Hypothalamic dysfunction ? | What are the signs and symptoms of hypothalamic dysfunction? The signs and symptoms of hypothalamic dysfunction may vary from person to person depending on the specific hormones missing. You can read more by visiting the following link from MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001202.htm | [
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What are the symptoms of Lafora disease ? | What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early chi... | [
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What are the symptoms of Multifocal choroiditis ? | What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation... | [
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What are the treatments for ankylosing spondylitis ? | These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from MedlinePlus offer information about the diagnosis and management of v... | [
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What is (are) Neuroacanthocytosis ? | Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and sym... | [
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What is (are) Denys-Drash syndrome ? | Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the ti... | [
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What is (are) Limb-girdle muscular dystrophy type 2A ? | Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused... | [
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what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Target... | [
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What are the genetic changes related to Shprintzen-Goldberg syndrome ? | Shprintzen-Goldberg syndrome is often caused by mutations in the SKI gene. This gene provides instructions for making a protein that regulates the transforming growth factor beta (TGF-) signaling pathway. The TGF- pathway regulates many processes, including cell growth and division (proliferation), the process by which... | [
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What are the symptoms of Raine syndrome ? | What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine 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 Medical Dictionary to l... | [
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What is (are) After Surgery ? | After any operation, you'll have some side effects. There is usually some pain with surgery. There may also be swelling and soreness around the area that the surgeon cut. Your surgeon can tell you which side effects to expect. There can also be complications. These are unplanned events linked to the operation. Some ... | [
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What is (are) Jaw Injuries and Disorders ? | Your jaw is a set of bones that holds your teeth. It consists of two main parts. The upper part is the maxilla. It doesn't move. The moveable lower part is called the mandible. You move it when you talk or chew. The two halves of the mandible meet at your chin. The joint where the mandible meets your skull is the tempo... | [
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What are the symptoms of ITCH E3 ubiquitin ligase deficiency ? | What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. 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 are the genetic changes related to hepatic lipase deficiency ? | Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs... | [
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How to diagnose Pseudoxanthoma elasticum ? | What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individ... | [
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What is (are) Diabetes and Pregnancy ? | Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby. About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first tim... | [
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How to diagnose Indigestion ? | To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine.
The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer dis... | [
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What are the symptoms of Langerhans Cell Histiocytosis ? | 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 multisy... | [
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Is glucose phosphate isomerase 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 Rh Incompatibility ? | Rh incompatibility is diagnosed with blood tests. To find out whether a baby is developing hemolytic anemia and how serious it is, doctors may use more advanced tests, such as ultrasound.
Specialists Involved
An obstetrician will screen for Rh incompatibility. This is a doctor who spec... | [
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Is Rett syndrome inherited ? | In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome a... | [
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What are the genetic changes related to hypohidrotic ectodermal dysplasia ? | Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers,... | [
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What is (are) pantothenate kinase-associated neurodegeneration ? | Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble w... | [
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What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics ... | [
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What is (are) Char syndrome ? | Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Most people with Char syndrome have a characteristic facial app... | [
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What are the genetic changes related to osteoglophonic dysplasia ? | Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors... | [
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What causes Parkinson's Disease ? | Parkinson's disease occurs when nerve cells, or neurons, in an area of the brain that controls movement die or become impaired. Normally, these neurons produce an important brain chemical known as dopamine, but once the neurons become impaired, they produce less dopamine and eventually die. It is this shortage of dopam... | [
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What are the symptoms of Follicle-stimulating hormone deficiency, isolated ? | What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people wi... | [
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What are the symptoms of Psoriasis ? | Different forms of psoriasis have different symptoms. In many cases your doctor can diagnose psoriasis based on the signs seen in the physical exam as well as the symptoms you describe. Symptoms The most common symptoms of psoriasis are - patches of thick, red skin - skin inflammation - silvery scales - itching - ... | [
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Do you have information about Endoscopy | Summary : Endoscopy is a procedure that lets your doctor look inside your body. It uses an instrument called an endoscope, or scope for short. Scopes have a tiny camera attached to a long, thin tube. The doctor moves it through a body passageway or opening to see inside an organ. Sometimes scopes are used for surgery, ... | [
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what research (or clinical trials) is being done for Deep Brain Stimulation for Parkinson's Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National institutes of Health (NIH), supports research on DBS to determine its safety, reliability, and effectiveness as a treatment for PD. NINDS supported research on brain circuitry was critical to the development of DBS.
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What are the symptoms of Androgen insensitivity syndrome ? | What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity 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 M... | [
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what research (or clinical trials) is being done for Rasmussen's Encephalitis ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Rasmussens encephalitis in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses o... | [
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How to diagnose Langerhans cell histiocytosis ? | How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out... | [
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What are the genetic changes related to multiminicore disease ? | Mutations in the RYR1 and SEPN1 genes cause multiminicore disease. The severe, classic form of multiminicore disease is usually caused by mutations in the SEPN1 gene. This gene provides instructions for making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may... | [
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Do you have information about Circumcision | Summary : Circumcision is the removal of the foreskin, which is the skin that covers the tip of the penis. In the United States, it is often done before a new baby leaves the hospital. There are medical benefits and risks to circumcision. Possible benefits include a lower risk of urinary tract infections, penile cancer... | [
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What is (are) Swyer syndrome ? | Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes,... | [
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What is (are) Cap myopathy ? | Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weak... | [
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What are the genetic changes related to Wolman disease ? | Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they c... | [
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What is (are) Diabetic Retinopathy ? | The four stages of diabetic retinopathy are - mild nonproliferative retinopathy - moderate nonproliferative retinopathy - severe nonproliferative retinopathy - proliferative retinopathy mild nonproliferative retinopathy moderate nonproliferative retinopathy severe nonproliferative retinopathy proliferative retinopat... | [
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Do you have information about Prostate Cancer Screening | Summary : The prostate is the gland below a man's bladder that produces fluid for semen. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. There is no standard screening test for prostate cancer. Researchers are studying different tests to find those with... | [
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What is (are) Hives ? | Hives are red and sometimes itchy bumps on your skin. An allergic reaction to a drug or food usually causes them. Allergic reactions cause your body to release chemicals that can make your skin swell up in hives. People who have other allergies are more likely to get hives than other people. Other causes include infect... | [
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What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery ... | [
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What is (are) Richter syndrome ? | Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low... | [
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What is (are) hereditary spherocytosis ? | Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it impr... | [
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What are the symptoms of Dystonia 3, torsion, X-linked ? | 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 Medli... | [
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What causes Juvenile amyotrophic lateral sclerosis ? | What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or aut... | [
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How to diagnose Hemoglobin E disease ? | How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobi... | [
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What is (are) EEC syndrome ? | EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or pa... | [
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What is (are) Vascular Diseases ? | The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block... | [
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What is (are) High Blood Cholesterol ? | Too much cholesterol in your blood is called high blood cholesterol. It can be serious. People with high blood cholesterol have a greater chance of getting heart disease. High blood cholesterol does not cause symptoms, so you may not be aware that your cholesterol level is too high. | [
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Is cartilage-hair hypoplasia 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 Hydranencephaly ? | How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the bra... | [
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What is (are) Crigler Najjar syndrome, type 1 ? | Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build... | [
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How many people are affected by idiopathic inflammatory myopathy ? | The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men. | [
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What are the symptoms of Langerhans cell histiocytosis ? | What are the signs and symptoms of Langerhans cell histiocytosis? Symptoms of Langerhans cell histiocytosis (LCH) can vary greatly from person to person depending on how much of the body is involved and what part(s) are affected. The disease can affect virtually every organ, including skin, bones, lymph nodes, bone mar... | [
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What is (are) Dystrophic epidermolysis bullosa ? | Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfi... | [
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