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What are the treatments for Aquagenic pruritus ? | What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. ... | [
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What are the symptoms of Kerion celsi ? | What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. 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 ... | [
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What are the treatments for autosomal dominant partial epilepsy with auditory features ? | These resources address the diagnosis or management of ADPEAF: - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant - MedlinePlus Encyclopedia: Partial (Focal) Seizure - MedlinePlus Encyclopedia: Seizur... | [
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What causes Hemophagocytic lymphohistiocytosis ? | What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulat... | [
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What is the outlook for Neuromyelitis Optica ? | Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of t... | [
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What is (are) Q Fever ? | More detailed information on the diagnosis, management, and treatment of Q fever is available in other sections of this web site and in the materials referenced in the section titled “Further Reading”.
How to Contact the Rickettsial Zoonoses Branch at CDC
The general public and healthcare providers should first c... | [
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Is Spinocerebellar ataxia 2 inherited ? | How is spinocerebellar ataxia 2 inherited? Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of ATXN2 (the responsible gene) in each cell is enough to cause signs and symptoms of the condition. The ATXN2 gene mutations that cause SCA2 involve... | [
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What is (are) multiple system atrophy ? | Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. Researchers have described two major types of mult... | [
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What are the symptoms of Neurofaciodigitorenal syndrome ? | What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal 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 Med... | [
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What is (are) Optic neuritis ? | Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, dru... | [
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What are the treatments for Pseudotumor Cerebri ? | Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are requir... | [
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What are the treatments for Prurigo nodularis ? | Is there treatment for prurigo nodularis? Prurigo nodularis can be challenging to treat. Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. Several treatments ma... | [
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Do you have information about Diabetic Diet | Summary : If you have diabetes, your body cannot make or properly use insulin. This leads to high blood glucose, or blood sugar, levels. Healthy eating helps keep your blood sugar in your target range. It is a critical part of managing your diabetes, because controlling your blood sugar can prevent the complications of... | [
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What are the genetic changes related to COL4A1-related brain small-vessel disease ? | As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main c... | [
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What is (are) autosomal recessive congenital stationary night blindness ? | Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be ... | [
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What are the symptoms of Bowen syndrome ? | What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen 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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Do you have information about Patient Safety | Summary : You can help prevent medical errors by being an active member of your health care team. Research shows that patients who are more involved with their care tend to get better results. To reduce the risk of medical errors, you can - Ask questions if you have doubts or concerns. Take a relative or friend t... | [
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What are the treatments for Diffuse idiopathic skeletal hyperostosis ? | How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inf... | [
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Is RAPADILINO syndrome 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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Is Partington syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | [
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Is spina bifida inherited ? | Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (such as siblings and children) of peo... | [
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Who is at risk for Cardiogenic Shock? ? | The most common risk factor for cardiogenic shock is having a heart attack. If you've had a heart attack, the following factors can further increase your risk for cardiogenic shock:
Older age
A history of heart attacks or heart failure
Coronary heart disease that affec... | [
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What are the treatments for congenital bilateral absence of the vas deferens ? | These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Congenital bilateral absence of the vas deferens - MedlinePlus Encyclopedia: Infertility - MedlinePlus Encyclopedia: Pathway of sper... | [
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What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmenta... | [
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what research (or clinical trials) is being done for Lung Cancer ? | Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Today, some of the most promising treatment approaches incorporate precision medicine. This approach first looks to see what genes may be mutated that are causing the cancer,... | [
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What is (are) Nutrition for Early Chronic Kidney Disease in Adults ? | MNT is the use of nutrition counseling by a registered dietitian to help promote a medical or health goal. A doctor may refer a patient to a registered dietitian to help with the patients food plan. Many insurance policies cover MNT when recommended by a doctor. Anyone who qualifies for Medicare can receive a benefit f... | [
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What are the genetic changes related to small fiber neuropathy ? | Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy. These genes provide instructions for making pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit for the NaV1.7 sodium channel and the SCN10A gene instructs the production of the alpha subunit... | [
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Is hypercholesterolemia inherited ? | Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inherita... | [
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What is (are) Myasthenia Gravis ? | Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of ... | [
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What are the symptoms of Mesomelic dysplasia Savarirayan type ? | What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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What is (are) intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body. Most affected individuals grow slowly before birth (intrauterine growth re... | [
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What causes Multiple sclerosis ? | What causes multiple sclerosis? Studies suggest that there are many factors that influence whether a person will develop multiple sclerosis (MS). The factors that contribute to its onset are multiple and may vary from person to person. The signs and symptoms of MS occur as a result of inflammation, loss of the protecti... | [
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What are the symptoms of Limb deficiencies distal with micrognathia ? | What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. If the information is available, the table below includes how often the symptom is seen in people with this condit... | [
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Is mevalonate kinase 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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What is (are) Felty's syndrome ? | Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptoma... | [
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What are the treatments for progressive familial intrahepatic cholestasis ? | These resources address the diagnosis or management of progressive familial intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2 - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 3 - Genetic Testin... | [
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What is (are) lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with la... | [
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What are the treatments for Septo-Optic Dysplasia ? | Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required. | [
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What are the treatments for Sialadenitis ? | How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionall... | [
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What are the symptoms of Microscopic polyangiitis ? | What are the signs and symptoms of Microscopic polyangiitis? The symptoms of MPA depend on which blood vessels are involved and what organs in the body are affected. The most common symptoms of MPA include kidney inflammation, weight loss, skin lesions, nerve damage, and fevers. This disorder may occur alone or with ot... | [
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What are the treatments for Klebsiella infection ? | How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibi... | [
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What causes Cardiomyopathy ? | Cardiomyopathy can be acquired or inherited. Acquired means you arent born with the disease, but you develop it due to another disease, condition, or factor.
Inherited means your parents passed the gene for the disease on to you. Researchers continue to look for the genetic links to cardiomyopathy and ... | [
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what research (or clinical trials) is being done for Benign Essential Blepharospasm ? | The NINDS supports a broad program of research on disorders of the nervous system, including BEB. Much of this research is aimed at increasing understanding of these disorders and finding ways to prevent, treat, and cure them. | [
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What are the treatments for adiposis dolorosa ? | These resources address the diagnosis or management of adiposis dolorosa: - Genetic Testing Registry: Lipomatosis dolorosa - Merck Manual Consumer Version: Lipomas These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | [
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what research (or clinical trials) is being done for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? | 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 Targete... | [
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What is (are) Monoclonal mast cell activation syndrome ? | Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic... | [
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What causes Thalassemias ? | Your body makes three types of blood cells: red blood cells, white blood cells, and platelets (PLATE-lets). Red blood cells contain hemoglobin, an iron-rich protein that carries oxygen from your lungs to all parts of your body. Hemoglobin also carries carbon dioxide (a waste gas) from your body to your lungs, where it'... | [
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What are the symptoms of Cataract ? | Common Symptoms The most common symptoms of a cataract are - cloudy or blurry vision and poor night vision - glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact len... | [
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Is Pierson syndrome inherited ? | How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Ca... | [
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How many people are affected by congenital mirror movement disorder ? | Congenital mirror movement disorder is a very rare disorder. Its prevalence is thought to be less than 1 in 1 million. Researchers suggest that some mildly affected individuals may never be diagnosed. | [
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Who is at risk for Coronary Heart Disease? ? | In the United States, coronary heart disease (CHD) is a leading cause of death for both men and women. Each year, about 370,000 Americans die from coronary heart disease.
Certain traits, conditions, or habits may raise your risk for CHD. The more risk factors you have, the more likely you are to develo... | [
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What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect t... | [
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What is (are) Immunotactoid glomerulopathy ? | Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposi... | [
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What is (are) Hydranencephaly ? | Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydro... | [
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What are the treatments for X-linked spondyloepiphyseal dysplasia tarda ? | These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda: - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda These resources from MedlinePlus offer information about the diagnosis and manage... | [
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What are the symptoms of Lung agenesis ? | What are the signs and symptoms of Lung agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung agenesis. 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 loo... | [
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What is (are) rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by... | [
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What causes Florid cemento-osseous dysplasia ? | What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and ... | [
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What are the symptoms of Fibrodysplasia ossificans progressiva ? | What are the signs and symptoms of Fibrodysplasia ossificans progressiva? Fibrodysplasia ossificans progressiva (FOP) is characterized by the gradual replacement of muscle tissue and connective tissue (such as tendons and ligaments) by bone, restricting movement. This process generally becomes noticeable in early child... | [
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what research (or clinical trials) is being done for Binswanger's Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to BD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways ... | [
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What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ? | What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. If the information is available, the table below includes how often the symptom is seen in people wi... | [
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What is the outlook for Syncope ? | Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder. | [
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What causes Nance-Horan syndrome ? | What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients m... | [
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What are the genetic changes related to multiple endocrine neoplasia ? | Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia. Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividin... | [
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What is (are) Ollier disease ? | Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where ... | [
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What are the genetic changes related to microphthalmia with linear skin defects syndrome ? | Mutations in the HCCS gene or a deletion of genetic material that includes the HCCS gene cause microphthalmia with linear skin defects syndrome. The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitocho... | [
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What are the treatments for Adrenal Insufficiency and Addison's Disease ? | Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection.
A person with adrenal insufficiency s... | [
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What are the symptoms of Broken Heart Syndrome ? | All chest pain should be checked by a doctor. Because symptoms of broken heart syndrome are similar to those of a heart attack, it is important to seek help right away. Your doctor may not be able to diagnose broken heart syndrome until you have some tests.
Common Signs and Symptoms
Th... | [
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How many people are affected by tubular aggregate myopathy ? | Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. | [
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How to diagnose Respiratory Failure ? | Your doctor will diagnose respiratory failure based on your medical history, a physical exam, and test results. Once respiratory failure is diagnosed, your doctor will look for its underlying cause.
Medical History
Your doctor will ask whether you might have or have recently had diseas... | [
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What are the treatments for What I need to know about Diarrhea ? | Diarrhea is treated by replacing lost fluids, salts, and minerals to prevent dehydration.
Taking medicine to stop diarrhea can be helpful in some cases. Medicines you can buy over the counter without a prescription include loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol, Kaopectate). Stop ... | [
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What is (are) Cervix Disorders ? | The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. The cervix has a small opening that expands during childbirth. It also allows menstrual blood to leave a woman's body. Your health care provider may perform a Pap test during your health checkup to look for changes to the cell... | [
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What is (are) neuroblastoma ? | Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | [
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Do you have information about Medicines and Children | Summary : When it comes to taking medicines, kids aren't just small adults. For prescription medicines, there is a "Pediatric" section of the label. It says whether the medication has been studied for its effects on children. It also tells you what ages have been studied. Aside from drugs for fever or pain, most over-t... | [
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What is (are) Dravet Syndrome ? | Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involun... | [
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Is 21-hydroxylase 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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What are the genetic changes related to mycosis fungoides ? | The cause of mycosis fungoides is unknown. Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. These abnormalities occur during a person's lifetime and are found only in the DNA of cancerous cells. Abnormalities have been found on most chromosomes, but som... | [
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How to diagnose Anemia of Inflammation and Chronic Disease ? | To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). A blood test involves drawing a persons blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The CBC includes a measurement of a persons hematocrit, the percentage ... | [
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How many people are affected by Ewing sarcoma ? | Approximately 3 per 1 million children each year are diagnosed with a Ewing sarcoma. It is estimated that, in the United States, 250 children are diagnosed with one of these types of tumor each year. Ewing sarcoma accounts for about 1.5 percent of all childhood cancers, and it is the second most common type of bone tum... | [
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What are the treatments for Alexander Disease ? | There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. | [
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What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ? | Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, defo... | [
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What are the treatments for 21-hydroxylase deficiency ? | These resources address the diagnosis or management of 21-hydroxylase deficiency: - Baby's First Test - CARES Foundation: Treatment - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Genetic Testing Registry: 21-hydroxylase deficiency - MedlinePlus Encyclopedia: Congenital Adrena... | [
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What are the treatments for Deep Vein Thrombosis ? | Doctors treat deep vein thrombosis (DVT) with medicines and other devices and therapies. The main goals of treating DVT are to:
Stop the blood clot from getting bigger
Prevent the blood clot from breaking off and moving to your lungs
Reduce your chance of having anothe... | [
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What is (are) Cancer in Children ? | Cancer begins in the cells, which are the building blocks of your body. Normally, new cells form as you need them, replacing old cells that die. Sometimes, this process goes wrong. New cells form when you don't need them, and old cells don't die when they should. The extra cells can form a tumor. Benign tumors aren't c... | [
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What are the treatments for Stroke ? | Treatment for a stroke depends on whether it is ischemic or hemorrhagic. Treatment for a transient ischemic attack (TIA) depends on its cause, how much time has passed since symptoms began, and whether you have other medical conditions.
Strokes and TIAs are medical emergencies. If you have stroke sympt... | [
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What causes Congenital Heart Defects ? | If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem. However, doctors often don't know why congenital heart defects occur.
Heredity may play a role in some heart defects. For example, a parent who has a congenital heart defect ma... | [
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What is (are) Congenital disorders of glycosylation ? | 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 ... | [
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What are the symptoms of Isobutyryl-CoA dehydrogenase deficiency ? | What are the signs and symptoms of Isobutyryl-CoA dehydrogenase deficiency? Infants with IBD deficiency usually appear healthy at birth. The signs and symptoms of IBD deficiency may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart ... | [
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What are the treatments for Parathyroid Cancer ? | Key Points
- There are different types of treatment for patients with parathyroid cancer. - Treatment includes control of hypercalcemia (too much calcium in the blood) in patients who have an overactive parathyroid gland. - Four types of standard treatment are used: - Surgery - R... | [
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What are the symptoms of Heart Failure ? | The most common signs and symptoms of heart failure are:
Shortness of breath or trouble breathing
Fatigue (tiredness)
Swelling in the ankles, feet, legs, abdomen, and veins in the neck
All of these symptoms are the result of fluid buildup in your body.... | [
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Is Sjgren-Larsson syndrome 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 is the outlook for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are certain inherited gene changes. - The age of the child. - The amount of tumor remaining after surgery. - Whether the cancer ... | [
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Is monilethrix inherited ? | Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new muta... | [
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What are the treatments for Aspergillosis ? | How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspe... | [
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What is (are) dihydropyrimidine dehydrogenase deficiency ? | Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others. In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder becomes apparent in infancy. These affected individuals h... | [
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Is Lenz microphthalmia syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | [
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What is (are) Muenke syndrome ? | Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the he... | [
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What are the treatments for Amyotrophic lateral sclerosis ? | How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole ... | [
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What are the genetic changes related to gastrointestinal stromal tumor ? | Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic ... | [
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What is (are) Stroke ? | A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The... | [
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