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These resources address the diagnosis or management of Cole disease: - Genetic Testing Registry: Cole disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling -...
These resources address the diagnosis or management of spastic paraplegia type 4: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 4 - Genetic Testing Registry: Spastic paraplegia 4, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments...
Most cases of dermatomyositis respond to therapy. The disease is usually more severe and resistant to therapy in individuals with cardiac or pulmonary problems.
The prognosis for individuals with MID is generally poor. The symptoms of the disorder may begin suddenly, often in a step-wise pattern after each small stroke. Some people with MID may even appear to improve for short periods of time, then decline after having more silent strokes. The disorder generally takes a downwa...
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.
Erectile dysfunction affects men of all races and in all parts of the world. Men are more likely to have ED as they get older. For example, ED occurs in - about 12 percent of men younger than 60 - 22 percent of men age 60 to 69 - 30 percent of men age 70 or older
Wernicke-Korsakoff syndrome is a brain disorder due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. Wernicke's encephalopathy can result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Korsakoff's...
These resources address the diagnosis or management of DOORS syndrome: - Gene Review: Gene Review: TBC1D24-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic...
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. In the fi...
CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases.
Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in whites of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations.
What are the signs and symptoms of Diffuse panbronchiolitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse panbronchiolitis. 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...
Considered together, the incidence of all types of dystrophic epidermolysis bullosa is estimated to be 6.5 per million newborns in the United States. The severe autosomal recessive forms of this disorder affect fewer than 1 per million newborns.
Summary : Teen violence refers to harmful behaviors that can start early and continue into young adulthood. The young person can be a victim, an offender, or a witness to the violence. Violent acts can include - Bullying - Fighting, including punching, kicking, slapping, or hitting - Use of weapons such ...
Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you dont have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center ...
Diabetes management and treatment is expensive. According to the American Diabetes Association (ADA), the average cost of health care for a person with diabetes is $13,741 a yearmore than twice the cost of health care for a person without diabetes.1 Many people who have diabetes need help paying for th...
Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people.
Treatment for heart disease includes meal planning to ensure a heart-healthy diet and physical activity. In addition, you may need medications to treat heart damage or to lower your blood glucose, blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it....
A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. There are three types of burns...
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.
Body lice are spread most commonly by direct contact with an infested person or an infested person’s clothing or bedding. Body lice usually infest persons who do not launder and change their clothes regularly. The following are steps that can be taken to help prevent and control the spread of body lice: ...
Pneumocystis jirovec is a tiny fungus that lives in the lungs of many people. Most people's immune systems keep the fungus under control. But if your immune system is weak, the fungus can make you very sick. The most common problem of infection is pneumocystis pneumonia (PCP). PCP once was the major cause of death ...
How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies ...
The prevalence of this condition is unknown. It appears to be more common in people of Dutch-German Mennonite descent. However, this disorder has been reported in families with many different ethnic backgrounds. The incomplete form is more common than the complete form.
Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.
Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be bor...
Treatment involves restoring normal levels of thyroid hormone and may include thyroid drugs, radioactive iodine, and sometimes partial or complete surgical removal of the thyroid.
Head lice are parasitic wingless insects. They live on people's heads and feed on their blood. An adult louse is about the size of a sesame seed. The eggs, called nits, are even smaller - about the size of a knot in thread. Lice and nits are found on or near the scalp, most often at the neckline and behind the ears. ...
Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the b...
CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Age of the child at the time of diagnosis. - The child's risk group. - Whether there are certain changes in the genes. - Where in the body the...
These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co...
Treatment for the disorder follows the established standards in multiple sclerosis and includes corticosteroids, beta-interferon or immunosuppressive therapy, and symptomatic treatment.
TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding...
Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). ...
The MESP2 gene provides instructions for a protein that plays a critical role in the development of vertebrae. Specifically, it is involved in separating vertebrae from one another during early development, a process called somite segmentation. Mutations in the MESP2 gene prevent the production of any protein or lead t...
The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the muta...
Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cel...
How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphati...
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...
Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may...
When Kabuki syndrome is caused by mutations in the KMT2D gene, 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. When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern. The...
How might systemic capillary leak syndrome be treated? Unfortunately, there is no cure for systemic capillary leak syndrome at this time. However, recent studies suggest that taking medication known as beta-adrenergic agonists (including terbutaline) or undergoing immunoglobulin intravenous (IV) therapy may reduce the...
All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. When cystinosin is...
Before considering treatment, the first step is to make sure the diagnosis is correct. Treatment decisions should be individualized. Health care providers may consult CDC staff about the relative merits of various approaches. Examples of factors to consider include the form of leishmaniasis, the Leishmania species...
How is Muir-Torre syndrome inherited? Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. When a person with an autosomal do...
Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles. Injuries to the perineum can happen suddenly, as in an accident, or gradually, as...
These resources address the diagnosis or management of hypochondrogenesis: - Genetic Testing Registry: Hypochondrogenesis - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap...
You have two kidneys. The kidneys are shaped like beans. Each kidney is about the size of a fist. They are located just below your ribcage, one on each side of your spine. Your kidneys filter your blood. Each kidney is made of 1 million little filters. During every minute of every day, these filters take out waste mate...
Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by...
The NINDS conducts and supports research on disorders of the brain and nervous system, including pseudotumor cerebri. This research focuses primarily on increasing scientific understanding of these disorders and finding ways to prevent, treat, and cure them.
The diagnosis of Chagas disease can be made by observation of the parasite in a blood smear by microscopic examination. A thick and thin blood smear are made and stained for visualization of parasites. However, a blood smear works well only in the acute phase of infection when parasites are seen circulating in blood. ...
How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene f...
Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition ...
A sign of childhood rhabdomyosarcoma is a lump or swelling that keeps getting bigger. Signs and symptoms may be caused by childhood rhabdomyosarcoma or by other conditions. The signs and symptoms that occur depend on where the cancer forms. Check with your child's doctor if your child has any of the following: ...
These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer information about the diagnosis and management of various health ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Approximately 30 percent of cases result from new mutations in the gene and occur in...
Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical...
Depression is a serious medical illness. It's more than just a feeling of being sad or "blue" for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include ...
There are two types of breast-conserving surgery -- lumpectomy and partial mastectomy. - Lumpectomy is the removal of the tumor and a small amount of normal tissue around it. A woman who has a lumpectomy almost always has radiation therapy as well. Most surgeons also take out some of the lymph nodes under the arm. Lump...
Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the PTCH1 gene and occur in people with no...
These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Ciliary dyskinesia, primary, 17 - Genetic Testing Registry: Kartagener syndrome - Genetic Testing Registry: Primary ciliary dyskinesia These resourc...
About 1 percent of people with diabetes have MIDD. The condition is most common in the Japanese population and has been found in populations worldwide.
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disabil...
Neuroblastoma is sometimes caused by a gene mutation (change) passed from the parent to the child. Gene mutations that increase the risk of neuroblastoma are sometimes inherited (passed from the parent to the child). In children with a gene mutation, neuroblastoma usually occurs at a younger age and more than one tumor...
In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). VUR can lead to infection because urine that remains in the childs urinary tract provides a place for bacteria to grow. Studies estimate that 30 percent of children and up to 70 percent of inf...
Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a "neoplasm." Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous...
The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females. Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and t...
How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cau...
Sjgren-Larsson syndrome was first observed in Sweden, where the prevalence of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence of this condition is unknown.
These resources address the diagnosis or management of glucose-galactose malabsorption: - Genetic Testing Registry: Congenital glucose-galactose malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Sur...
A kidney transplant places a healthy kidney from another person into your body. The kidney may come from someone who has just died. Your doctor will place your name on a waiting list for a kidney. A family member or friend might be able to give you a kidney. Then you dont have to wait. Once it is place...
There is no absolute cure for migraine since its pathophysiology has yet to be fully understood. There are two ways to approach the treatment of migraine headache with drugs: prevent the attacks, or relieve the symptoms during the attacks. Prevention involves the use of medications and behavioral changes. Drugs origina...
Is spastic diplegia cerebral palsy inherited? Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother,...
The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild s...
Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavi...
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of th...
Traumatic brain injury (TBI), a form ofacquired brain injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue.Symptoms of a TBI can be mild, moderate, or severe, depending on the exten...
A doctor may prescribe antibiotics and recommend following a liquid diet. Most people get better with this treatment. Some people may need surgery and other treatments. - Surgery. Serious problems from diverticulitis are treated with surgery. Surgeons can clean the abdomen after infections and remove b...
Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The pr...
Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. With bone marrow...
There is no agreed upon standard of treatment for neurosarcoidosis. Doctors generally recommend corticosteroid therapy as first-line therapy for individuals with the condition. Additional treatment with immunomodulatory drugs such as hydroxychloroquine, pentoxyfilline, thalidomide, and infliximab, and immunosuppressive...
Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly fr...
Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene. This gene provides instructions for making a protein called GLUT10. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-) signaling pathway. This pathway is involved in cell gro...
Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown.
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers a...
FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a "permissive" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. Other people with FSHD1 have no history of the disorder i...
Neuroleptic malignant syndrome is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating, unstable blood pressure, stupor, muscular rigidity, and autonomic dysfunction. In most cases, the disorder develops within th...
Acinetobacter can live on the skin and may survive in the environment for several days. Careful attention to infection control procedures, such as hand hygiene and environmental cleaning, can reduce the risk of transmission.
What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, o...
Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Auto...
Punctate palmoplantar keratoderma type I, also known as keratosis palmoplantaris papulosa (KPPP) or Brauer-Buschke-Fisher Syndrome is is a rare condition that affects the skin. It is a type of punctate palmoplantar keratoderma. Signs and symptoms begin in early adolescence or later and include hard, round bumps of thic...
Progressive familial heart block types I and II are inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Some people with TRPM4 gene mutations never develop the condition, a situation known as reduced penetrance. In most cases, an affecte...
The NINDS supports and conducts research on movement disorders such as opsoclonus myoclonus. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.
The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and...
Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin K helps your body by making proteins for healthy bones and tissues. It also makes proteins for blood clotting. If you don't have enough vitamin K, you may bleed too much. Newborns have very little vitamin K. They usually get...
The cause of Poland syndrome is unknown. Researchers have suggested that it may result from a disruption of blood flow during development before birth. This disruption is thought to occur at about the sixth week of embryonic development and affect blood vessels that will become the subclavian and vertebral arteries on ...
These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Congenital myasthenic syndrome - Genetic Testing Registry: Congenit...
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...
These resources address the diagnosis or management of Alexander disease: - Gene Review: Gene Review: Alexander Disease - Genetic Testing Registry: Alexander's disease - MedlinePlus Encyclopedia: Myelin These resources from MedlinePlus offer information about the diagnosis and management of various health conditio...