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Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans.
How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed. Intraoral X-rays (X-rays taken inside the mouth) show contrast between the enamel and dentin in cases in which mineralization is affected. Genetic testing is available for the genes AMELX, ENAM, and MMP20. You can visit the Genetic Testing Registry to locate laboratories performing genetic testing for these genes. The American Academy of Pediatric Dentistry is a source of information to find a pediatric dentist. The National Dental Association can also assist people in locating a dentist.
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.
Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB 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. Sometimes, however, people with only one HBB gene mutation in each cell develop mild anemia. These mildly affected people are said to have thalassemia minor. In a small percentage of families, the HBB gene mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia.
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.
Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood. About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.
The prognosis for individuals with chorea varies depending on the type of chorea and the associated disease. Huntington's disease is a progressive, and ultimately, fatal disease. Syndenham's chorea is treatable and curable.
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.
Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is known about its function. Studies suggest that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene mutations cause the skeletal abnormalities characteristic of metatropic dysplasia. Mutations in the TRPV4 gene appear to overactivate the channel, increasing the flow of calcium ions into cells. However, it remains unclear how changes in the activity of the calcium channel lead to the specific features of the condition.
Your wrist is made up of eight small bones known as carpals. They support a tube that runs through your wrist. That tube, called the carpal tunnel, has tendons and a nerve inside. It is covered by a ligament, which holds it in place. Wrist pain is common. Repetitive motion can damage your wrist. Everyday activities like typing, racquet sports or sewing can cause pain, or even carpal tunnel syndrome. Wrist pain with bruising and swelling can be a sign of injury. The signs of a possible fracture include misshapen joints and inability to move your wrist. Some wrist fractures are a result of osteoporosis. Other common causes of pain are - Sprains and strains - Tendinitis - Arthritis - Gout and pseudogout
Is nephrocalcinosis inherited? Nephrocalcinosis may be caused by a large variety of things, including underlying disorders, certain medications and supplements, and infections. Nephrocalcinosis itself is not inherited. However, the underlying condition that is causing nephrocalcinosis in an individual may be inherited. Some inherited conditions that may be associated with nephrocalcinosis in affected individuals are: Multiple endocrine neoplasia type 1 (MEN1) Familial distal renal tubular acidosis Chronic granulomatous disease Primary hyperoxaluria Bartter syndrome primary hyperaldosteronism Liddle syndrome 11-beta hydroxylase deficiency, a form of congenital adrenal hyperplasia (CAH) Autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemic conditions
These resources address the diagnosis or management of familial hemiplegic migraine: - Gene Review: Gene Review: Familial Hemiplegic Migraine - Genetic Testing Registry: Familial hemiplegic migraine - Genetic Testing Registry: Familial hemiplegic migraine type 1 - Genetic Testing Registry: Familial hemiplegic migraine type 2 - Genetic Testing Registry: Familial hemiplegic migraine type 3 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
No treatment has been shown to slow the progression of FTD. Behavior modification may help control unacceptable or dangerous behaviors. Aggressive, agitated, or dangerous behaviors could require medication. Anti-depressants have been shown to improve some symptoms.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia. However, a health care provider can give information about how changes in eating, diet, or nutrition could help with treatment. Men should talk with a health care provider or dietitian about what diet is right for them.
Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include - Ataxia - trouble coordinating movements - Poor balance - Slurred speech - Tiny, red spider veins, called telangiectasias, on the skin and eyes - Lung infections - Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke
Certain factors put you at higher risk for an aortic aneurysm. These factors include: Male gender. Men are more likely than women to have aortic aneurysms. Age. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who are aged 65 or older. Smoking. Smoking can damage and weaken the walls of the aorta. A family history of aortic aneurysms. People who have family histories of aortic aneurysms are at higher risk for the condition, and they may have aneurysms before the age of 65. A history of aneurysms in the arteries of the legs. Certain diseases and conditions that weaken the walls of the aorta. Examples include high blood pressure and atherosclerosis. Having a bicuspid aortic valve can raise the risk of having a thoracic aortic aneurysm. A bicuspid aortic valve has two leaflets instead of the typical three. Car accidents or trauma also can injure the arteries and increase the risk for aneurysms. If you have any of these risk factors, talk with your doctor about whether you need screening for aneurysms.
Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to suggest the possibility a genetic component to yellow nail syndrome. However, the possibility of a genetic cause for yellow nail syndrome remains a subject of debate, as most cases of this condition occur by chance in individuals who do not have a family history of this condition. Unfortunately, because there are so few cases of familial yellow nail syndrome, there is limited information and currently no known research about possible genetic causes.
VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.
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.
What causes Askins tumor? In 80% to 90% of Askins tumors, a part of chromosome 11 and chromosome 22 are translocated. 'Translocation' means that the chromosomes have exchanged material. This exchange of material interrupts the cell's ability to grow and divide normally. In general, cancers are caused when the genes that regulate the cell's growth and division are changed. The cause of the changes is unknown, but may be due to a combination of genetic factors, environmental factors, and the process of aging. The development of cancer is not a quick or simple process. It is a progression involving a build-up of changes in a number of different genes in the cells of the body tissues over time.
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.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The leading scientific theory at this time maintains that CJD is caused by a type of protein called a prion. The harmless and the infectious forms of the prion protein are nearly identical, but the infectious form takes a different folded shape than the normal protein. Researchers are trying to discover factors that influence prion infectivity and how the disorder damages the brain. Using rodent models of the disease and brain tissue from autopsies, researchers are also trying to develop improved diagnostic tests for CJD and to learn what changes ultimately kill the neurons so that effective treatments can be developed.
Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
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.
These resources address the diagnosis or management of Cohen syndrome: - Gene Review: Gene Review: Cohen Syndrome - Genetic Testing Registry: Cohen syndrome - MedlinePlus Encyclopedia: Hypotonia 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
Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. 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. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.
How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be performed to detect microscopic levels of hematuria. In some cases, a kidney biopsy may also be recommended to evaluate the structure and function of the kidney.
How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.
What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. Scientists also suspect that nerve abnormalities and/or altered blood flow to certain parts of the brain (brainstem and occipital lobes, specifically) may also play a role in the development of basilar migraines. The susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, episodes of basilar migraines may occur in more than one family member.
How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the striated muscle of the urethral sphincter using concentric needle electrode examination reveals a fairly unique electromyographic (EMG) abnormality. This EMG abnormality is found in association with the urethral sphincter (group of muscles which surround the urinary passage below the bladder), and consists of a type of activity that would be expected to cause inappropriate contraction of the muscle (i.e., impair sphincter relaxation).
Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs. Early diagnosis and treatment is important for any type of chILD. See the Children's Interstitial Lung Disease Foundation to see a list of different ILDs and to find more information about diagnosis, treatment and help finding a specialist.
There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.
How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf
Different factors increase or decrease the risk of getting colorectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for colorectal cancer, see the PDQ summary on Colorectal Cancer Prevention.
These resources address the diagnosis or management of glutaric acidemia type I: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 1 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
Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature.
Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with the condition; this situation is known as reduced penetrance.
Key Points - Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. - Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer. - Signs and symptoms of laryngeal cancer include a sore throat and ear pain. - Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. The larynx is a part of the throat, between the base of the tongue and the trachea. The larynx contains the vocal cords, which vibrate and make sound when air is directed against them. The sound echoes through the pharynx, mouth, and nose to make a person's voice. There are three main parts of the larynx: - Supraglottis: The upper part of the larynx above the vocal cords, including the epiglottis. - Glottis: The middle part of the larynx where the vocal cords are located. - Subglottis: The lower part of the larynx between the vocal cords and the trachea (windpipe). Most laryngeal cancers form in squamous cells, the thin, flat cells lining the inside of the larynx. Laryngeal cancer is a type of head and neck cancer.
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 support additional research through grants to major medical institutions across the country. Knowledge about TS comes from studies across a number of medical and scientific disciplines, including genetics, neuroimaging, neuropathology, clinical trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies.
When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When caused by mutations in the MEOX1 gene, Klippel-Feil syndrome 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. As a feature of another disorder, Klippel-Feil syndrome is inherited in whatever pattern the other disorder follows.
Treatment for craniosynostosis generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull to accommodate brain growth and improve the appearance of the head.
How is Freeman Sheldon syndrome diagnosed? Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic features such as a small mouth, flat mask-like face, club feet, joint contractures, and under-development of the cartilage of the nose. A definitive diagnosis can be made through clinical genetic testing. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus a state of continuous seizure requiring emergency medical care also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5.
Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus. The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures. Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.
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.
These resources address the diagnosis or management of Sjgren syndrome: - Genetic Testing Registry: Sjgren's syndrome - MedlinePlus Encyclopedia: Schirmer's Test - National Institute of Dental and Craniofacial Research: Sjgren's Syndrome Clinic - Sjgren's Syndrome Foundation: Treatments 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
Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. In the United States, about 20 million people have asthma. Nearly 9 million of them are children. Children have smaller airways than adults, which makes asthma especially serious for them. Children with asthma may experience wheezing, coughing, chest tightness, and trouble breathing, especially early in the morning or at night. Many things can cause asthma, including - Allergens - mold, pollen, animals - Irritants - cigarette smoke, air pollution - Weather - cold air, changes in weather - Exercise - Infections - flu, common cold When asthma symptoms become worse than usual, it is called an asthma attack. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms.
Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment). Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years. Signs and symptoms of the disorder typically begin in early adulthood but can appear anytime from childhood to late adulthood. People with SCA1 typically survive 10 to 20 years after symptoms first appear.
Treatment for Miller Fisher syndrome is identical to treatment for Guillain-Barr syndrome: intravenous immunoglobulin (IVIg) or plasmapheresis (a procedure in which antibodies are removed from the blood) and supportive care.
Treatment of primary myelofibrosis in patients without signs or symptoms is usually watchful waiting. Patients with primary myelofibrosis may have signs or symptoms of anemia. Anemia is usually treated with transfusion of red blood cells to relieve symptoms and improve quality of life. In addition, anemia may be treated with: - Erythropoietic growth factors. - Prednisone. - Danazol. - Thalidomide, lenalidomide, or pomalidomide, with or without prednisone. Treatment of primary myelofibrosis in patients with other signs or symptoms may include the following: - Targeted therapy with ruxolitinib. - Chemotherapy. - Donor stem cell transplant. - Thalidomide, lenalidomide, or pomalidomide. - Splenectomy. - Radiation therapy to the spleen, lymph nodes, or other areas outside the bone marrow where blood cells are forming. - Biologic therapy using interferon alfa or erythropoietic growth factors. - A clinical trial of other targeted therapy drugs. Check the list of NCI-supported cancer clinical trials that are now accepting patients with primary myelofibrosis. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
What symptoms are associated with cholesteatoma? Early symptoms may include drainage from the ear, sometimes with a foul odor. As the cholesteatoma cyst or sac enlarges, it can lead to a full feeling or pressure in the ear, hearing loss, dizziness and pain, numbness or muscle weakness on one side of the face. On examination, the ear drum (tympanic membrane) appears abnormal. In rare cases, a cholesteatoma may erode through the tegmen, allowing an epidural abscess to form which could lead to a more serious brain infection.
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.
Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown.
What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. 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) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - 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.
Congenital short femur is a rare type of skeletal dysplasia, a complex group of bone and cartilage disorders that affect the skeleton of a fetus as it develops during pregnancy. Congenital short femur can vary in severity, ranging from hypoplasia (underdevelopment) of the femur to absence of the femur. With modern surgery techniques and expertise, lengthening the shortened femur may be an option for some patients. However surgical lengthening of the femur remains a challenging procedure with risks for complications.
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.
Fibromyalgia is a disorder that causes muscle pain and fatigue. People with fibromyalgia have "tender points" on the body. Tender points are specific places on the neck, shoulders, back, hips, arms, and legs. These points hurt when pressure is put on them. People with fibromyalgia may also have other symptoms, such as - Trouble sleeping - Morning stiffness - Headaches - Painful menstrual periods - Tingling or numbness in hands and feet - Problems with thinking and memory (sometimes called "fibro fog") No one knows what causes fibromyalgia. Anyone can get it, but it is most common in middle-aged women. People with rheumatoid arthritis and other autoimmune diseases are particularly likely to develop fibromyalgia. There is no cure for fibromyalgia, but medicine can help you manage your symptoms. Getting enough sleep, exercising, and eating well may also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent. In the past, it was thought that the lethal type of metatropic dysplasia had an autosomal recessive pattern of inheritance, in which both copies of the gene in each cell have mutations. However, more recent research has confirmed that all metatropic dysplasia has an autosomal dominant pattern of inheritance.
How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient.
Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition. Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for primary brain and spinal cord tumors depend on the following: - The type and grade of the tumor. - Where the tumor is in the brain or spinal cord. - Whether the tumor can be removed by surgery. - Whether cancer cells remain after surgery. - Whether there are certain changes in the chromosomes. - Whether the cancer has just been diagnosed or has recurred (come back). - The patient's general health. The prognosis and treatment options for metastatic brain and spinal cord tumors depend on the following: - Whether there are more than two tumors in the brain or spinal cord. - Where the tumor is in the brain or spinal cord. - How well the tumor responds to treatment. - Whether the primary tumor continues to grow or spread.
3MC syndrome is caused by mutations in the COLEC11 or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of reactions called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during early development before birth to form the organs and systems of the body. It appears to be particularly important in directing the migration of neural crest cells, which give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. The COLEC11 gene provides instructions for making a protein called CL-K1. Three different proteins, MASP-1, MASP-3, and MAp44 can be produced from the MASP1 gene, depending on how the gene's instructions are pieced together. The MASP1 gene mutations identified in people with 3MC syndrome affect the MASP-3 protein; some affect the MASP-1 protein in addition to MASP-3. COLEC11 and MASP1 gene mutations that cause 3MC syndrome impair or eliminate the function of the corresponding proteins, resulting in faulty control of cell migration in embryonic development and leading to the various abnormalities that occur in this disorder. In some people with 3MC syndrome, no mutations in the COLEC11 or MASP1 gene have been identified. In these individuals, the cause of the disorder is unknown.
Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene. Treatment consists of calcium and vitamin D supplements.
Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies can lead to Giardia infections. Cats can transmit toxoplasmosis, which is dangerous for pregnant women. Others, like malaria, are common in other parts of the world. If you are traveling, it's important to drink only water you know is safe. Prevention is especially important. There are no vaccines for parasitic diseases. Some medicines are available to treat parasitic infections.
Fragile X syndrome is inherited in an X-linked dominant 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. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. In women, the FMR1 gene premutation on the X chromosome can expand to more than 200 CGG repeats in cells that develop into eggs. This means that women with the premutation have an increased risk of having a child with fragile X syndrome. By contrast, the premutation in men does not expand to more than 200 repeats as it is passed to the next generation. Men pass the premutation only to their daughters. Their sons receive a Y chromosome, which does not include the FMR1 gene.
Mutations in the TSC1 or TSC2 gene can cause tuberous sclerosis complex. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely work together to help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. People with tuberous sclerosis complex are born with one mutated copy of the TSC1 or TSC2 gene in each cell. This mutation prevents the cell from making functional hamartin or tuberin from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For some types of tumors to develop, a second mutation involving the other copy of the TSC1 or TSC2 gene must occur in certain cells during a person's lifetime. When both copies of the TSC1 gene are mutated in a particular cell, that cell cannot produce any functional hamartin; cells with two altered copies of the TSC2 gene are unable to produce any functional tuberin. The loss of these proteins allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with tuberous sclerosis complex, a second TSC1 or TSC2 mutation typically occurs in multiple cells over an affected person's lifetime. The loss of hamartin or tuberin in different types of cells leads to the growth of tumors in many different organs and tissues.
These resources address the diagnosis or management of Canavan disease: - Gene Review: Gene Review: Canavan Disease - Genetic Testing Registry: Canavan disease, mild - Genetic Testing Registry: Spongy degeneration of central nervous system - MedlinePlus Encyclopedia: Canavan 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 - Palliative Care
These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Vitreoretinochoroidopathy dominant 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
Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are - High blood pressure - High blood glucose, or blood sugar, levels - High levels of triglycerides, a type of fat, in your blood - Low levels of HDL, the good cholesterol, in your blood - Too much fat around your waist Not all doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help you turn sugar from food into energy for your body. If you are insulin resistant, too much sugar builds up in your blood, setting the stage for disease. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain. Hydrocephalus can be congenital, or present at birth. Causes include genetic problems and problems with how the fetus develops. An unusually large head is the main sign of congenital hydrocephalus. Hydrocephalus can also happen after birth. This is called acquired hydrocephalus. It can occur at any age. Causes can include head injuries, strokes, infections, tumors, and bleeding in the brain. Symptoms include - Headache - Vomiting and nausea - Blurry vision - Balance problems - Bladder control problems - Thinking and memory problems Hydrocephalus can permanently damage the brain, causing problems with physical and mental development. If untreated, it is usually fatal. With treatment, many people lead normal lives with few limitations. Treatment usually involves surgery to insert a shunt. A shunt is a flexible but sturdy plastic tube. The shunt moves the cerebrospinal fluid to another area of the body where it can be absorbed. Medicine and rehabilitation therapy can also help. NIH: National Institute of Neurological Disorders and Stroke
Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins and supplements, lip balm, and even the glue on stamps and envelopes. Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms. Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.
How might acute intermittent porphyria (AIP) be treated? Treatment of AIP may vary based on the trigger of the attack and the symptoms present. Treatment may include stopping medications that cause or worsen the symptoms, treating any infections which may be present, administration of pain medication, monitoring fluid balance and/or correcting electrolyte disturbances, monitoring neurologic status and administering respiratory support. Mild attacks can be manged with increased caloric intake and fluid replacement. Recurrent acute attacks should be managed by a porphyria specialist. Hospitalization is often necessary. Panhematin, an intravenous medication used to correct heme deficiency, may also be prescribed. More detailed information about the use of Panhematin for the treatment of AIP can be found by clicking here.
Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. This makes it difficult for the blood to carry out its normal functions.
Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.
Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharospasm occurs in both men and women, although it is especially common in middle-aged and elderly women. Most cases are treated with botulinum toxin injections. The exact cause of benign essential blepharospasm is unknown.
Although the cause of psoriasis is not completely understood, scientists believe it is related to a problem with a type of blood cells called T cells. These cells normally travel through the bloodstream to help fight an infection, but in people with psoriasis, they attack the bodys skin cells by mistake.
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. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems.
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern.
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Eating, diet, and nutrition have not been shown to play a role in causing or preventing an ectopic kidney.
The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 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. The inheritance pattern of juvenile myoclonic epilepsy caused by mutations in the EFHC1 gene is not known. Although juvenile myoclonic epilepsy can run in families, many cases occur in people with no family history of the disorder.
Is achondroplasia inherited? Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mutation). Each individual with achondroplasia has a 50% chance, with each pregnancy, to pass on the mutated gene.
This condition appears to be uncommon, although its prevalence is unknown.
What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor.
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family. In this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss.
Autistic disorder (sometimes called autism or classical ASD) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs). Autistic children have difficulties with social interaction, display problems with verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling. Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when more debilitating handicaps mask it. Scientists arent certain what causes autism, but its likely that both genetics and environment play a role.
Hypotension can affect people of all ages. However, people in certain age groups are more likely to have certain types of hypotension. Older adults are more likely to have orthostatic and postprandial hypotension. Children and young adults are more likely to have neurally mediated hypotension. People who take certain medicinessuch as diuretics ("water pills") or other high blood pressure medicinesare at increased risk for hypotension. Certain conditions also increase the risk for hypotension. Examples include central nervous system disorders (such as Parkinson's disease) and some heart conditions. Other risk factors for hypotension include being immobile (not being able to move around very much) for long periods, being out in the heat for a long time, and pregnancy. Hypotension during pregnancy is normal and usually goes away after birth.
LDL stands for low-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries and make them narrower. This buildup of cholesterol is called plaque. Over time, plaque can build up so much that it narrows your arteries. This is called atherosclerosis or hardening of the arteries. The higher the level of LDL cholesterol in your blood, the greater your chances of getting heart disease.
Viruses are capsules with genetic material inside. They are very tiny, much smaller than bacteria. Viruses cause familiar infectious diseases such as the common cold, flu and warts. They also cause severe illnesses such as HIV/AIDS, smallpox and hemorrhagic fevers. Viruses are like hijackers. They invade living, normal cells and use those cells to multiply and produce other viruses like themselves. This eventually kills the cells, which can make you sick. Viral infections are hard to treat because viruses live inside your body's cells. They are "protected" from medicines, which usually move through your bloodstream. Antibiotics do not work for viral infections. There are a few antiviral medicines available. Vaccines can help prevent you from getting many viral diseases. NIH: National Institute of Allergy and Infectious Diseases
An injury is damage to your body. It is a general term that refers to harm caused by accidents, falls, hits, weapons, and more. In the U.S., millions of people injure themselves every year. These injuries range from minor to life-threatening. Injuries can happen at work or play, indoors or outdoors, driving a car, or walking across the street. Wounds are injuries that break the skin or other body tissues. They include cuts, scrapes, scratches, and punctured skin. They often happen because of an accident, but surgery, sutures, and stitches also cause wounds. Minor wounds usually aren't serious, but it is important to clean them. Serious and infected wounds may require first aid followed by a visit to your doctor. You should also seek attention if the wound is deep, you cannot close it yourself, you cannot stop the bleeding or get the dirt out, or it does not heal. Other common types of injuries include - Bruises - Burns - Dislocations - Fractures - Sprains and strains
How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Genetic Resources section to learn how you can locate a genetics professional in your community.
Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues, including the lenses of the eyes, which are held in position by these filaments. Mutations in the FBN1 or ADAMTSL4 gene impair protein function and lead to a decrease in microfibril formation or result in the formation of impaired microfibrils. Without functional microfibrils to anchor the lens in its central position at the front of the eye, the lens becomes displaced. The displaced lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis.
What are the signs and symptoms of Infundibulopelvic dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infundibulopelvic dysgenesis. 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) Multicystic kidney dysplasia 90% Abdominal pain - Autosomal dominant inheritance - Microscopic hematuria - 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.

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