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How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as...
A balance disorder is a disturbance of the body systems controlling balance. This disturbance can make people feel dizzy, unsteady, or as if they were spinning. Balance disorders are a common cause of falls and fall-related injuries, such as hip fractures.
When the absence of the septum pellucidum is part of septo-optic dysplasia, the prognosis varies according to the presence and severity of associated symptoms. By itself, absence of the septum pellucidum is not life-threatening.
Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have...
IMAGe syndrome is very rare, with only about 20 cases reported in the medical literature. The condition has been diagnosed more often in males than in females, probably because females do not have associated genital abnormalities.
X-linked adrenal hypoplasia congenita is estimated to affect 1 in 12,500 newborns.
Key Points - There is no standard staging system for adult brain and spinal cord tumors. - Imaging tests may be repeated after surgery to help plan more treatment. There is no standard staging system for adult brain and spinal cord tumors. ...
How might cri du chat syndrome be treated? While there is no specific treatment available for cri du chat syndrome, early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), beh...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supportsa broad range of research on disorders that affect the central nervous system. The...
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.
Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the i...
- Hepatitis A is a virus, or infection, that causes inflammation of the liver. - Anyone can get hepatitis A, but some people are more likely to than others. - You could get hepatitis A through contact with an infected persons stool. - Most people do not have any symptoms of hepatitis A. - Children younger than age ...
Mutations in the ZEB2 gene cause Mowat-Wilson syndrome. The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control ...
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.
Diarrhea is frequent, loose, and watery bowel movements. Bowel movements, also called stools, are body wastes passed through the rectum and anus. Stools contain what is left after your digestive system absorbs nutrients and fluids from what you eat and drink. If your body does not absorb the fluids, or if your digestiv...
People age 60 and older, as well as African Americans and Hispanics over age 45, are at higher risk. African Americans and Hispanics are at higher risk for low vision because they are at higher risk for developing diabetes and diabetic retinopathy, and African Americans are at a higher risk for developing glaucoma.
To prevent ED, you should eat a healthy diet of whole-grain foods, fruits and vegetables, low-fat dairy foods, and lean meats. A diet that causes you to be overweight and have heart and blood vessel disease can also lead to ED. You should avoid foods high in fat and sodium, the main part of salt. You should also avoid ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, affected individuals have one affected parent. However, some people who inherit an altered gene never develop features of familial hemiplegic migraine. ...
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.
Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount ...
What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c...
These resources address the diagnosis or management of congenital plasminogen deficiency: - Genetic Testing Registry: Plasminogen deficiency, type I - Indiana Hemophilia and Thrombosis Center - Plasminogen Deficiency Registry These resources from MedlinePlus offer information about the diagnosis and management of ...
Summary : Breastfeeding offers many benefits to your baby. Breast milk contains the right balance of nutrients to help your infant grow into a strong and healthy toddler. Some of the nutrients in breast milk also help protect your infant against some common childhood illnesses and infections. It may also help your heal...
MOPDII appears to be a rare condition, although its prevalence is unknown.
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.
Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones...
You don't need to take any special steps before having an electrocardiogram (EKG). However, tell your doctor or his or her staff about the medicines you're taking. Some medicines can affect EKG results.
What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provid...
Summary : Climate is the average weather in a place over a period of time. Climate change is major change in temperature, rainfall, snow, or wind patterns lasting for many years. It can be caused by natural factors or by human activities. Today climate changes are occurring at an increasingly rapid rate. Climate cha...
There is no cure for narcolepsy. In 1999, after successful clinical trial results, the U.S. Food and Drug Administration (FDA) approved a drug called modafinil for the treatment of EDS. Two classes of antidepressant drugs have proved effective in controlling cataplexy in many patients: tricyclics (including imipramine,...
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed develop...
What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. 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 defin...
Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen.Ovarian low malignant potential tumor may not cause early signs or symptoms. If you do have signs or symptoms, they may include the following: - Pain or swelling in the abdomen. - Pain in the pelvis. - Gas...
Cholesterol can build up in the walls of your arteries. This buildup of cholesterol is called plaque. Over time, the plaque can build up so much that the arteries become narrower. This is called atherosclerosis, or hardening of the arteries. It can slow down or block the flow of blood to your heart.
- Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. - Many diseases and disorders can cause chronic diarrhea in children. Common causes include infections, functional gastrointestinal (GI) disorders, food allergies and intolerances, and inflammatory bowel disea...
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 Alzheimer disease: - Alzheimer's Disease Research Center, Washington University School of Medicine - Gene Review: Gene Review: Alzheimer Disease Overview - Gene Review: Gene Review: Early-Onset Familial Alzheimer Disease - Genetic Testing Registry: Alzheimer di...
Approximately 235 million people worldwide have asthma. In the United States, the condition affects an estimated 8 percent of the population. In nearly 90 percent of children and 50 percent of adults with asthma, the condition is classified as allergic asthma.
These resources address the diagnosis or management of ataxia neuropathy spectrum: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - National Ataxia Foundation: Gene Testing for Hereditary Ataxia - United Mitochondrial Diseas...
How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one m...
L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic beh...
How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as...
The NINDS supports and conducts research on TSEs, including GSS. Much of this research is aimed at characterizing the agents that cause these disorders, clarifying the mechanisms underlying them, and, ultimately, finding ways to prevent, treat, and cure them.
The focus of any treatment should be to help the individual with prosopagnosia develop compensatory strategies. Adults who have the condition as a result of stroke or brain trauma can be retrained to use other clues to identify individuals.
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include speech and swallowing difficulties, rigidity, tremors, and weakness in ...
The prognosis for individuals diagnosed with hydrocephalus is difficult to predict, although there is some correlation between the specific cause of hydrocephalus and the patient's outcome. Prognosis is further complicated by the presence of associated disorders, the timeliness of diagnosis, and the success of treatmen...
Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pinea...
Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscle...
This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and o...
Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar skeletal disorder) occur in 1 in 40,000 to 60,000 newborns.
Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal bl...
An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system. Often, people who have AF may not even feel symptoms. But you may feel - Palpitations -- an abnormal rapid heartbeat...
Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces, preventing them from sticking together as the body moves. However, abdominal adhesions cause tissues and organs in the abdominal cavity to stick together.
What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of "procollagen molecules" (precursors of collagen). Collagen is a protein that provides structu...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are certain inherited gene changes. - The age of the child. - The amount of tumor remaining after surgery. - Whether the cancer ...
Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A chara...
These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protei...
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.
HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular,...
Most women experience breast changes at some time. Your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk). If you have a breast lump, pain, discharge or skin irritation, see your health care provider. Minor and serious breast problems have similar sy...
How is non-involuting congenital hemangioma diagnosed? Non-involuting congenital hemangioma (NICH) is diagnosed by taking a biopsy of the skin mark and examining the tissue under a microscope. NICH looks different under the microscope than most infantile hemangiomas because the blood vessels are arranged more irregula...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor...
Metabolic syndrome is a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. These risk factors can increase your risk for health problems even if they're only moderately raised (borderline-high risk factors). Most of the metabolic risk f...
These resources address the diagnosis or management of craniofacial-deafness-hand syndrome: - Genetic Testing Registry: Craniofacial deafness hand syndrome - Johns Hopkins Children's Center: Hearing Loss These resources from MedlinePlus offer information about the diagnosis and management of various health conditio...
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in theUnited States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that af...
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.
A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. ...
Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia. Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people in this populatio...
Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequ...
Eating, diet, and nutrition have not been shown to play a role in causing or preventing nephrotic syndrome in adults. For people who have developed nephrotic syndrome, limiting intake of dietary sodium, often from salt, and fluid may be recommended to help reduce edema. A diet low in saturated fat and cholesterol may a...
The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may le...
Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the condition is not usually inherited from an affected parent, but occurs from new (de novo) mutations in the gene that likely occur ...
Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered ...
Shprintzen-Goldberg syndrome is a rare condition, although its prevalence is unknown. It is difficult to identify the number of affected individuals, because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and symptoms.
Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shor...
These resources address the diagnosis or management of EKVP: - Genetic Testing Registry: Erythrokeratodermia variabilis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun...
Polymyalgia rheumatica is a disorder that causes muscle pain and stiffness in your neck, shoulders, and hips. It is most common in women and almost always occurs in people over 50. The main symptom is stiffness after resting. Other symptoms include fever, weakness and weight loss. In some cases, polymyalgia rheumatica ...
Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper ox...
The complications of short bowel syndrome may include - malnutrition - peptic ulcerssores on the lining of the stomach or duodenum caused by too much gastric acid - kidney stonessolid pieces of material that form in the kidneys - small intestinal bacterial overgrowtha condition in which abnormally l...
Steroids such as prednisone -- used to reduce inflammation and swelling -- are an effective treatment for Bell's palsy. Antiviral drugs may have some benefit in shortening the course of the disease. Analgesics such as aspirin, acetaminophen, or ibuprofen may relieve pain. Because of possible drug interactions, individu...
Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often ha...
Risk Increases With Age AMD is most common in older people, but it can occur during middle age. The risk increases with age. Other Risk Factors Other risk factors include - Smoking - Obesity - Race. Whites are much more likely to lose vision from AMD than African-Americans. - Family history. People with a family his...
Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1. Cryopyrin and monarch-1 belong to a family of proteins cal...
What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. 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...
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.
How is Weill-Marchesani syndrome diagnosed? The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. T...
Your spleen is an organ above your stomach and under your ribs on your left side. It is about as big as your fist. The spleen is part of your lymphatic system, which fights infection and keeps your body fluids in balance. It contains white blood cells that fight germs. Your spleen also helps control the amount of blood...
Adams-Oliver syndrome is a rare disorder; its prevalence is unknown.
Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and ch...
Because tic symptoms do not often cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. There is no one medication that is helpful to all people with TS, nor does any medication comple...
Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect ...
After a heart attack, many people worry about having another heart attack. They often feel depressed and may have trouble adjusting to a new lifestyle. You should discuss your feelings with your doctor. Your doctor can give you medication for anxiety or depression and may recommend professional counseling. Spend time w...
Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU...
What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach c...
Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 10 percent of people with cri-du-chat syndrom...
Is there anything that I might have done that could have caused or prevented Peters plus syndrome? No. Peters plus syndrome is genetic; therefore, there is nothing you or your partner could have done to cause or to prevent the syndrome.
CPT I deficiency is a rare disorder; fewer than 50 affected individuals have been identified. This disorder may be more common in the Hutterite and Inuit populations.
These resources address the diagnosis or management of X-linked sideroblastic anemia and ataxia: - Gene Review: Gene Review: X-Linked Sideroblastic Anemia and Ataxia - Genetic Testing Registry: Anemia sideroblastic and spinocerebellar ataxia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer...
X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or ...
- Diarrhea is loose, watery stools. Having diarrhea means passing loose stools three or more times a day. - Diarrhea is a common problem that usually goes away on its own. - The most common causes of diarrhea include bacterial, viral, and parasitic infections; functional bowel disorders; intestinal diseases; food int...