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Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis). As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor. Epidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body. Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.
Certain genetic conditions increase the risk of childhood CNS embryonal tumors. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. Risk factors for CNS embryonal tumors include having the following inherited diseases: - Turcot syndrome. - Rubinstein-Taybi syndrome. - Nevoid basal cell carcinoma (Gorlin) syndrome. - Li-Fraumeni syndrome. - Fanconi anemia. In most cases, the cause of CNS embryonal tumors is not known.
There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. During a physical exam, a doctor will listen for abnormal heart sounds and lung sounds that indicate fluid buildup, as well as look for signs of swelling. If there are signs of heart failure, the doctor may order several tests, including: - an EKG, or electrocardiogram, to measure the rate and regularity of the heartbeat - a chest X-ray to evaluate the heart and lungs - a BNP blood test to measure the level of a hormone called BNP that increases when heart failure is present. an EKG, or electrocardiogram, to measure the rate and regularity of the heartbeat a chest X-ray to evaluate the heart and lungs a BNP blood test to measure the level of a hormone called BNP that increases when heart failure is present.
LBSL is a rare condition. Its exact prevalence is not known.
If acquired cystic kidney disease is not causing complications, a person does not need treatment. A health care provider will treat infections with antibioticsmedications that kill bacteria. If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin. When a surgeon transplants a new kidney into a patient's body to treat kidney failure, acquired cystic kidney disease in the damaged kidneys, which usually remain in place after a transplant, often disappears. A surgeon may perform an operation to remove tumors or suspected tumors. In rare cases, a surgeon performs an operation to stop cysts from bleeding. Have Regular Screenings to Look for Cyst or Tumor Growth Some health care providers recommend all people with end-stage kidney disease get screened for kidney cancer using CT scans or MRIs after 3 years of dialysis. People with acquired cystic kidney disease should talk with their health care provider about when to begin screening.
Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs. NIH: National Heart, Lung, and Blood Institute
How is SCOT deficiency diagnosed? Diagnosis of SCOT deficiency is made in people showing the signs and symptoms of the condition and who have absent or reduced SCOT enzyme activity.
Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.
REN-related kidney disease is a rare condition. At least three families with this condition have been identified.
Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.
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 two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry an SLC9A6 gene mutation have mild learning disabilities. It is unclear if these disabilities are related to the gene mutation or occur by chance.
Kawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5 years old. Kawasaki disease is rare in children older than 8.
Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. Although this region has the highest incidence of the condition, it has also been diagnosed in a few people from other parts of the world.
All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks. People with GAD cant seem to get rid of their concerns, even though they usually realize that their anxiety is more intense than the situation warrants. They cant relax, startle easily, and have difficulty concentrating. Often they have trouble falling asleep or staying asleep. Physical symptoms that often accompany the anxiety include fatigue, headaches, muscle tension, muscle aches, difficulty swallowing, trembling, twitching, irritability, sweating, nausea, lightheadedness, having to go to the bathroom frequently, feeling out of breath, and hot flashes. When their anxiety level is mild, people with GAD can function socially and hold down a job. Although they dont avoid certain situations as a result of their disorder, people with GAD can have difficulty carrying out the simplest daily activities if their anxiety is severe. Learn more about generalized anxiety disorder (GAD).
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life.
These resources address the diagnosis or management of Axenfeld-Rieger syndrome: - Genetic Testing Registry: Axenfeld-Rieger syndrome type 1 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 - Genetic Testing Registry: Rieger syndrome - Glaucoma Research Foundation: Care and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here.
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.
Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs in 15 percent of cases, and type III is very rare.
These resources address the diagnosis or management of Noonan syndrome: - Gene Review: Gene Review: Noonan Syndrome - Genetic Testing Registry: Noonan syndrome - Genetic Testing Registry: Noonan syndrome 1 - Genetic Testing Registry: Noonan syndrome 2 - Genetic Testing Registry: Noonan syndrome 3 - Genetic Testing Registry: Noonan syndrome 4 - Genetic Testing Registry: Noonan syndrome 5 - Genetic Testing Registry: Noonan syndrome 6 - Genetic Testing Registry: Noonan syndrome 7 - MedlinePlus Encyclopedia: Noonan Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
A cyst is a fluid-filled sac. There are two types of kidney cysts. Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. Symptoms of PKD include - Pain in the back and lower sides - Headaches - Urinary tract infections - Blood in the urine Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.
Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library at www.nutrition.gov. Dietary Supplements Iodine is an essential mineral for the thyroid. However, people with autoimmune thyroid disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hyperthyroidism. More information about iodine is provided by the National Library of Medicine in the fact sheet, Iodine in diet, available at www.nlm.nih.gov/medlineplus. Women need more iodine when they are pregnantabout 250 micrograms a daybecause the baby gets iodine from the mothers diet. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.6 Choosing iodized saltsalt supplemented with iodineover plain salt and prenatal vitamins containing iodine will ensure this need is met. To help ensure coordinated and safe care, people should discuss their use of dietary supplements, such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.
The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. The medication does not reliably kill pinworm eggs. Therefore, the second dose is to prevent re-infection by adult worms that hatch from any eggs not killed by the first treatment.Health practitioners and parents should weigh the health risks and benefits of these drugs for patients under 2 years of age. Repeated infections should be treated by the same method as the first infection. In households where more than one member is infected or where repeated, symptomatic infections occur, it is recommended that all household members be treated at the same time. In institutions, mass and simultaneous treatment, repeated in 2 weeks, can be effective.
Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. The most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction. DSRCTs are treated first with chemotherapy, then with surgery to remove the tumor, if possible. Radiation therapy is sometimes given, depending on the tumor. In addition, some people with DSRCT are candidates for a bone marrow transplant.
Roughly 200,000 people each year visit a doctor for a chemosensory problem such as a taste disorder. Many more taste disorders go unreported.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether or not the tumor can be removed by surgery. - The stage of the cancer (the size of the tumor and whether the cancer has spread outside the pancreas to nearby tissues or lymph nodes or to other places in the body). - The patients general health. - Whether the cancer has just been diagnosed or has recurred (come back). Pancreatic cancer can be controlled only if it is found before it has spread, when it can be completely removed by surgery. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease.
Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection.
Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure. Some of these proteins allow for cell flexibility; red blood cells have to be flexible to travel from the large blood vessels (arteries) to the smaller blood vessels (capillaries). The proteins allow the cell to change shape without breaking when passing through narrow capillaries. Mutations in red blood cell membrane proteins result in an overly rigid, misshapen cell. Instead of a flattened disc shape, these cells are spherical. Dysfunctional membrane proteins interfere with the cell's ability to change shape when traveling through the blood vessels. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis. Mutations in the ANK1 gene are responsible for approximately half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis each account for a smaller percentage of cases of this condition.
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.
Scientists are studying the underlying causes of the epilepsies in children, adults, and the elderly, as well as seizures that occur following brain trauma, stroke, and brain tumors. Ongoing research is focused on developing new model systems that can be used to more quickly screen potential new treatments for the epilepsies. The identification of genes or other genetic information that may influence or cause the epilepsies may allow doctors to prevent the disorders or to predict which treatments will be most beneficial to individuals with specific types of epilepsy. Scientists also continue to study how neurotransmitters interact with brain cells to control nerve firing and how non-neuronal cells in the brain contribute to seizures. Researchers funded by the National Institutes of Health have developed a flexible brain implant that could one day be used to treat seizures. Scientists are continually improving MRI and other brain scans that may assist in diagnosing the epilepsies and identify the source, or focus, of the seizures in the brain. Other areas of study include prevention of seizures and the role of inflammation in epilepsy. Patients may enter trials of experimental drugs and surgical interventions. More about epilepsy research
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body's cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. The development of individuals with this form of trisomy 18 may range from normal to severely affected. Very rarely, part of the long (q) arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. People with this genetic change are said to have partial trisomy 18. If only part of the q arm is present in three copies, the physical signs of partial trisomy 18 may be less severe than those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18.
The prevalence of piebaldism is unknown.
Anyone can get hepatitis B, but those more likely to are people who - were born to a mother with hepatitis B - are in contact with blood, needles, or body fluids at work - live with someone who currently has an active hepatitis B infection - have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - are on kidney dialysisthe process of filtering wastes and extra water from the body by means other than the kidneys - are taking medicines that suppress the immune system, such as steroids or chemotherapy medicines - have lived in or travel often to parts of the world where hepatitis B is common - are from Asian and Pacific Island nations - are infected with HIV or hepatitis C - have injected illegal drugs - work or live in a prison - had a blood transfusion or organ transplant before the mid-1980s Also, men who have sex with men are more likely to get hepatitis B.
These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the GJA1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.
The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand.
These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by childhood Hodgkin lymphoma or by other conditions. Check with your child's doctor if your child has any of the following: - Painless, swollen lymph nodes near the collarbone or in the neck, chest, underarm, or groin. - Fever for no known reason. - Weight loss for no known reason. - Night sweats. - Fatigue. - Anorexia. - Itchy skin. - Pain in the lymph nodes after drinking alcohol. Fever, weight loss, and night sweats are called B symptoms.
These resources address the diagnosis or management of primary spontaneous pneumothorax: - Genetic Testing Registry: Pneumothorax, primary spontaneous - MedlinePlus Encyclopedia: Chest Tube Insertion - MedlinePlus Encyclopedia: Collapsed Lung - Merck Manual for Patients and Caregivers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Actin-accumulation myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.
Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Scientists continue their extensive efforts to create new and better therapies for MS. One of the most promising MS research areas involves naturally occurring antiviral proteins known as interferons. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. In addition, there are a number of treatments under investigation that may curtail attacks or improve function. Over a dozen clinical trials testing potential therapies are underway, and additional new treatments are being devised and tested in animal models. In 2001, the National Academies/Institute of Medicine, a Federal technical and scientific advisory agency, prepared a strategic review of MS research. To read or download the National Academies/Institute of Medicine report, go to: "Multiple Sclerosis: Current Status and Strategies for the Future."
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of BCL6 corepressor protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of OFCD syndrome. In males (who have only one X chromosome), mutations result in a total loss of the BCL6 corepressor protein. A lack of this protein appears to be lethal very early in development, so no males are born with OFCD syndrome.
Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke
Children with a UTI should drink as much as they wish and not be forced to drink large amounts of fluid. The health care provider needs to know if a child is not interested in drinking or is unable to drink.
What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hearing impairment - Increased dermatoglyphic whorls - Ventricular hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a 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.
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipid antibody syndrome. Most cases of Sneddon syndrome occur in people with no other family history of the condition, however there have been a few families with more than one member affected. A recent study found that in one family, Sneddon syndrome developed as a result of inheriting two changes in the CECR1 gene. In this family, Sneddon syndrome was inherited in an autosomal recessive fashion. Other case reports of familial Sneddon syndrome suggest an autosomal dominant pattern of inheritance. It is not currently known if all familial cases are due to changes in CECR1. Currently there is a research study titled, Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory Diseases, which is studying the effects of CECR1 gene mutations. The study lead is Dr. Daniel Kastner of the National Human Genome Research Institute. Click on the study title to learn more.
Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body. RVH is high blood pressure caused by RAS. Blood pressure is written with two numbers separated by a slash, 120/80, and is said as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. A persons blood pressure is considered normal if it stays at or below 120/80. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1
- An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. - A defect in the abdominal wall that is present at birth causes an indirect inguinal hernia. - Direct inguinal hernias usually occur only in male adults as aging and stress or strain weaken the abdominal muscles around the inguinal canal. Females rarely form this type of inguinal hernia. - The first sign of an inguinal hernia is a small bulge on one or, rarely, on both sides of the grointhe area just above the groin crease between the lower abdomen and the thigh. - An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. - When an incarcerated hernia is not treated, the blood supply to the small intestine may become obstructed, causing strangulation of the small intestine. - People who have symptoms of an incarcerated or a strangulated hernia should seek emergency medical help immediately. A strangulated hernia is a life-threatening condition. - Repair of an inguinal hernia via surgery is the only treatment for inguinal hernias and can prevent incarceration and strangulation.
Cognitive behavioral therapy (CBT) is a type of psychotherapy that is very useful in treating anxiety disorders. It can help people change the thinking patterns that support their fears and change the way they react to anxiety-provoking situations. For example, cognitive behavioral therapy can help people with panic disorder learn that their panic attacks are not really heart attacks and help people with social phobia learn how to overcome the belief that others are always watching and judging them. When people are ready to confront their fears, they are shown how to use exposure techniques to desensitize themselves to situations that trigger their anxieties.
Common health problems that can run in a family include - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention)
How is fibrodysplasia ossificans progressiva inherited? Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In only a small number of cases, an affected person has inherited the mutation from one affected parent.
Flu is a respiratory infection caused by a number of viruses. The viruses pass through the air and enter your body through your nose or mouth. Between 5% and 20% of people in the U.S. get the flu each year. The flu can be serious or even deadly for elderly people, newborn babies, and people with certain chronic illnesses. Symptoms of the flu come on suddenly and are worse than those of the common cold. They may include - Body or muscle aches - Chills - Cough - Fever - Headache - Sore throat Is it a cold or the flu? Colds rarely cause a fever or headaches. Flu almost never causes an upset stomach. And "stomach flu" isn't really flu at all, but gastroenteritis. Most people with the flu recover on their own without medical care. People with mild cases of the flu should stay home and avoid contact with others, except to get medical care. If you get the flu, your health care provider may prescribe medicine to help your body fight the infection and lessen symptoms. The main way to keep from getting the flu is to get a yearly flu vaccine. Good hygiene, including hand washing, can also help. NIH: National Institute of Allergy and Infectious Diseases
WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.
Summary : Heroin is a white or brown powder or a black, sticky goo. It's made from morphine, a natural substance in the seedpod of the Asian poppy plant. It can be mixed with water and injected with a needle. Heroin can also be smoked or snorted up the nose. All of these ways of taking heroin send it to the brain very quickly. This makes it very addictive. Major health problems from heroin include miscarriages, heart infections, and death from overdose. People who inject the drug also risk getting infectious diseases, including HIV/AIDS and hepatitis. Regular use of heroin can lead to tolerance. This means users need more and more drug to have the same effect. At higher doses over time, the body becomes dependent on heroin. If dependent users stop heroin, they have withdrawal symptoms. These symptoms include restlessness, muscle and bone pain, diarrhea and vomiting, and cold flashes with goose bumps. NIH: National Institute on Drug Abuse
Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC 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. In most cases, an affected person has one parent with the condition. When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism.
Skin cancer occurs when cancer cells form in the tissues of the skin. The skin is mainly made up of two layers: the inner layer, called the dermis, and the outer layer, called the epidermis. Within the epidermis, there are three types of cells; squamous cells, basal cells, and melanocytes. There are three types of skin cancer: basal cell carcinoma, squamous cell carcinoma, and melanoma. The types of cancer are named after the type of cells that are affected. Basal cell carcinoma and squamous cell carcinoma are very common, especially in older people. However, they are rarely life-threatening. Melanoma is a less common, yet more serious, type of cancer.
KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported.
Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.
Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few dozen affected individuals have been described in the medical literature.
These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency: - Boston Children's Hospital: Pediatric Kidney Stones in Children - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Have you ever had the "stomach flu?" What you probably had was gastroenteritis - not a type of flu at all. Gastroenteritis is an inflammation of the lining of the intestines caused by a virus, bacteria or parasites. Viral gastroenteritis is the second most common illness in the U.S. The cause is often a norovirus infection. It spreads through contaminated food or water, and contact with an infected person. The best prevention is frequent hand washing. Symptoms of gastroenteritis include diarrhea, abdominal pain, vomiting, headache, fever and chills. Most people recover with no treatment. The most common problem with gastroenteritis is dehydration. This happens if you do not drink enough fluids to replace what you lose through vomiting and diarrhea. Dehydration is most common in babies, young children, the elderly and people with weak immune systems. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Researchers are working hard to understand and identify the genes involved in colorectal cancer. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers.
Guillain-Barr syndrome is a rare disorder in which the body's immune system attacks part of the peripheral nervous system. Symptoms include muscle weakness, numbness, and tingling sensations, which can increase in intensity until the muscles cannot be used at all. Usually Guillain-Barr syndrome occurs a few days or weeks after symptoms of a viral infection. Occasionally, surgery or vaccinations will trigger the syndrome. It remains unclear why only some people develop Guillain-Barr syndrome but there may be a genetic predisposition in some cases. Diagnosed patients should be admitted to a hospital for early treatment. There is no cure for Guillain-Barr syndrome, but treatments such as plasma exchange (plasmapheresis) and high dose immunoglobulins may reduce the severity and duration of symptoms. Recovery can take as little as a few days to as long as a few years. About 30% of those with Guillain-Barr syndrome have residual weakness. A small number may suffer a relapse many years after the initial attack.
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, such as for removing polyps from the colon. There are many different kinds of endoscopy. Here are the names of some of them and where they look. - Arthroscopy: joints - Bronchoscopy: lungs - Colonoscopy and sigmoidoscopy: large intestine - Cystoscopy and ureteroscopy: urinary system - Laparoscopy: abdomen or pelvis - Upper gastrointestinal endoscopy: esophagus and stomach
Risk Increases With Age Researchers suspect that osteoarthritis is caused by a combination of factors in the body and the environment. The chance of developing osteoarthritis increases with age. It is estimated that 33.6% (12.4 million) of individuals age 65 and older are affected by the disease. Wear and Tear on Joints Affects Cartilage Osteoarthritis often results from years of wear and tear on joints. This wear and tear mostly affects the cartilage, the tissue that cushions the ends of bones within the joint. Osteoarthritis occurs when the cartilage begins to fray, wear away, and decay. Putting too much stress on a joint that has been previously injured, improper alignment of joints, and excess weight all may contribute to the development of osteoarthritis.
If you have a lot of blood in the center of the eye, or vitreous gel, you may need a vitrectomy to restore your sight. If you need vitrectomies in both eyes, they are usually done several weeks apart. A vitrectomy is performed under either local or general anesthesia. Your doctor makes a tiny incision in your eye. Next, a small instrument is used to remove the vitreous gel that is clouded with blood. The vitreous gel is replaced with a salt solution. Because the vitreous gel is mostly water, you will notice no change between the salt solution and the original vitreous gel.
What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease.
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.
Is rheumatic fever inherited? Rheumatic fever is likely inherited in a multifactorial manner, which means it is caused by multiple genes interacting with each other and with environmental factors. The condition is thought to occur in genetically susceptible children who are infected with group A Streptococcus bacteria and live in poor social conditions. Some studies suggest that differences in the expression of various genes involved in the immune response may contribute to rheumatic fever susceptibility.
For more information on stroke, including research sponsored by the National Institute of Neurological Disorders and Stroke, call 1-800-352-9424 or visit the Web site at www.ninds.nih.gov.
How might succinic semialdehyde dehydrogenase deficiency be treated? Treatment of succinic semialdehyde dehydrogenase deficiency (SSADH) is generally symptomatic and typically focuses on the treatment of seizures and neurobehavioral disturbances. Antiepileptic drugs (AEDs) that have proven to be effective in treating the seizures associated with this condition include carbamazepine and lamotrigine (LTG). Medications such as methylphenidate, thioridazine, risperidal, fluoxetine, and benzodiazepines appear to be effective at treating anxiety, aggressiveness, inattention, and hallucinations. Additional treatments may include physical and occupational therapy, sensory integration, and/or speech therapy.
People with diabetes, hypertension, or certain family backgrounds are at risk for proteinuria. In the United States, diabetes is the leading cause of ESRD.1 In both type 1 and type 2 diabetes, albumin in the urine is one of the first signs of deteriorating kidney function. As kidney function declines, the amount of albumin in the urine increases. Another risk factor for developing proteinuria is hypertension, or high blood pressure. Proteinuria in a person with high blood pressure is an indicator of declining kidney function. If the hypertension is not controlled, the person can progress to full kidney failure. African Americans are more likely than Caucasians to have high blood pressure and to develop kidney problems from it, even when their blood pressure is only mildly elevated. In fact, African Americans are six times more likely than Caucasians to develop hypertension-related kidney failure.2 Other groups at risk for proteinuria are American Indians, Hispanics/Latinos, Pacific Islander Americans, older adults, and overweight people. These at-risk groups and people who have a family history of kidney disease should have their urine tested regularly.
Summary : Each step you take involves a complex network of bones, muscles, tendons, and ligaments. This, combined with all of the weight they carry, explains why feet can have problems. To keep your feet healthy - Examine your feet regularly - Wear comfortable shoes that fit - Wash your feet daily with soap and lukewarm water - Trim your toenails straight across and not too short Your foot health can be a clue to your overall health. For example, joint stiffness could mean arthritis. Tingling or numbness could be a sign of diabetes. Swelling might indicate kidney disease, heart disease, or high blood pressure. Good foot care and regular foot checks are an important part of your health care. If you have foot problems, be sure to talk to your doctor. NIH: National Institute on Aging
Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide.
Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. Additionally, microfibrils regulate the activity of molecules called growth factors. Growth factors enable the growth and repair of tissues throughout the body. Mutations in the FBN2 gene can decrease fibrillin-2 production or result in the production of a protein with impaired function. As a result, microfibril formation is reduced, which probably weakens the structure of connective tissue and disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly.
Each year over a million people in the U.S. have a heart attack. About half of them die. Many people have permanent heart damage or die because they don't get help immediately. It's important to know the symptoms of a heart attack and call 9-1-1 if someone is having them. Those symptoms include - Chest discomfort - pressure, squeezing, or pain - Shortness of breath - Discomfort in the upper body - arms, shoulder, neck, back - Nausea, vomiting, dizziness, lightheadedness, sweating These symptoms can sometimes be different in women. What exactly is a heart attack? Most heart attacks happen when a clot in the coronary artery blocks the supply of blood and oxygen to the heart. Often this leads to an irregular heartbeat - called an arrhythmia - that causes a severe decrease in the pumping function of the heart. A blockage that is not treated within a few hours causes the affected heart muscle to die. NIH: National Heart, Lung, and Blood Institute
Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications.
What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.
Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner. Rarely it may be inherited in an X-linked recessive manner. Treatment is supportive and depends on the symptoms in each person.
Researchers are studying various drugs, immunotherapies, and other types of treatments. Because leukemia is a complicated disease, researchers are also studying the effectiveness of using combinations of treatments. Following are a few examples of some areas of current research. The drug imatinib (Gleevec) is important in the treatment of chronic myeloid leukemia. However, imatinib stops working in some people with leukemia because the cells become resistant. Fortunately, two drugs, dasatinib (Sprycel) and nilotinib (Tasigna), are being used to treat people who stop responding to imatinib. Both are approved by the FDA for use in patients. These drugs work against the same abnormal protein targeted by imatinib, but in different ways. Gene therapy -- replacing, manipulating, or supplementing nonfunctional genes with healthy genes -- is being explored for treatment of leukemia. It is being studied as a way to stimulate a patient's immune system to kill leukemia cells and also to interfere with the production of proteins that cause cells to become cancerous. Learn more about ongoing leukemia research.
How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium levels), decreased or normal plasma levels of renin and aldosterone, metabolic alkalosis with high sodium plasma levels, and low rates of urinary excretion of sodium and aldosterone with high rates of urinary potassium excretion. The diagnosis can be further confirmed by genetic testing.
The classic symptoms of botulism include double vision, blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. Infants with botulism appear lethargic, feed poorly, are constipated, and have a weak cry and poor muscle tone. These are all symptoms of the muscle paralysis caused by the bacterial toxin. If untreated, these symptoms may progress to cause paralysis of the respiratory muscles, arms, legs, and trunk. In foodborne botulism, symptoms generally begin 18 to 36 hours after eating a contaminated food, but they can occur as early as 6 hours or as late as 10 days.
The exact prevalence of white sponge nevus is unknown, but it is estimated to affect less than 1 in 200,000 individuals worldwide.
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.
Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than undescended testicle repair in males. The cause of the condition is unknown.
How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset). Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out.
What causes Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. Possible environmental factors including: Exposure of the pregnant mother to radiation, teratogenic medications, or hypothermia Trauma or disrupted blood flow to the baby in the womb Chorionic villus sampling procedures (when performed too early in the pregnancy)
The NINDS conducts and supports a wide range of studies that explore the complex systems of brain development. These studies include the identification of the mechanism of action of the known causes of NMD as well as studies to identify further causes of disease. NIH-funded researchers work closely with parental support groups to bring research discoveries directly to patients. The knowledge gained from these studies provides the foundation for understanding abnormal development and offers hope for new ways to treat and prevent NMDs.
Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot effectively regulate the flow of sodium ions into skeletal muscle cells. The resulting increase in ion flow interferes with normal muscle contraction and relaxation, leading to episodes of muscle stiffness and weakness.
How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). The other two-thirds may be treated by a whole lung lavage, a procedure in which one lung is cleansed with a salt solution while the other is pumped with pure oxygen. In some cases, the procedure may need to be performed once; in others it may need to be repeated many times over several years. In secondary PAP (due to environmental exposure or an underlying disorder), removal and avoidance of the causative agent (e.g., silica exposure) or treatment of the underlying disorder may improve symptoms. Inhaled GM-CSF (granulocyte-macrophage colony-stimulating factor), a blood-stimulating medication, has been shown to improve the condition in some individuals with PAP. Lung transplantation has been used to treat adults with PAP as a last resort. According to the medical literature, in some cases, PAP has recurred in adults who have received lung transplantation.
What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans.
Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism. Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol.
Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinsons disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.