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The heart has an internal electrical system that controls the rhythm of the heartbeat. Problems can cause abnormal heart rhythms, called arrhythmias. There are many types of arrhythmia. During an arrhythmia, the heart can beat too fast, too slow, or it can stop beating. Sudden cardiac arrest (SCA) occurs when the heart... |
Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while ... |
What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutation... |
Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide. |
Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizur... |
These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome These resources from MedlinePlus offer information about the diagnosis and manageme... |
Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year. |
Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families. |
The prognosis for foot drop depends on the cause. Foot drop caused by trauma or nerve damage usually shows partial or even complete recovery. For progressive neurological disorders, foot drop will be a symptom that is likely to continue as a lifelong disability, but it will not shorten life expectancy. |
X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. The prevalence of the disorder is 5.24 per 100,000 peopl... |
How might lichen planus pigmentosus be treated? Treatment for lichen planus pigmentosus is generally symptomatic and may include: Topical (applied to the skin) corticosteroids Topical calcineurin inhibitors (medications that are typically used to treat eczema) Skin lightening agents Laser therapy |
The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the tumor-related swelling inside the CNS. |
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... |
Treatments for early kidney disease include both diet and lifestyle changes and medications. Diet and lifestyle changes, such as eating heart healthy foods and exercising regularly to maintain a healthy weight, can help prevent the diseases that cause kidney damage. If you already have diabetes and/or high blood pressu... |
Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people. |
What are the signs and symptoms of Dysautonomia like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysautonomia like disorder. 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... |
Having a heart attack increases your chances of having another one. Therefore, it is very important that you and your family know how and when to seek medical attention. Talk to your doctor about making an emergency action plan, and discuss it with your family. The emergency action plan should include - warning signs o... |
- When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are birth defects, surgical removal of a kidney, and kidney donation. - In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely... |
Summary : Part D is the name of Medicare's prescription drug coverage. It's insurance that helps people pay for prescription drugs. It is available to everyone who has Medicare. It provides protection if you pay high drug costs or have unexpected prescription drug bills. It doesn't cover all costs. You have to pay part... |
Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms u... |
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Cyclic vomiting syndrome affects the upper GI tract, w... |
Having HIV/AIDS weakens your body's immune system. Your immune system normally fights germs that enter your body. When HIV/AIDS makes it weak, it can't fight germs well. This can lead to serious infections that don't often affect healthy people. These are called opportunistic infections (OIs). There are many types o... |
Diagnosing HPS
Diagnosing HPS in an individual who has only been infected a few days is difficult, because early symptoms such as fever, muscle aches, and fatigue are easily confused with influenza. However, if the individual is experiencing fever and fatigue and has a history of potential rural rodent exposure, tog... |
GPI deficiency is a rare cause of hemolytic anemia; its prevalence is unknown. About 50 cases have been described in the medical literature. |
The most common form of psoriasis is called plaque psoriasis. It appears as raised red patches covered in silvery white scales. Plaque psoriasis usually shows up on the scalp, knees, elbows, and lower back. The patches may itch or be painful. They can also crack and bleed. |
A person with acquired cystic kidney disease often has no symptoms. However, the complications of acquired cystic kidney disease can have signs and symptoms. |
These resources address the diagnosis or management of propionic acidemia: - Baby's First Test - Gene Review: Gene Review: Propionic Acidemia - Genetic Testing Registry: Propionic acidemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... |
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 nonsyndromic aplasia cutis congenita: - Genetic Testing Registry: Aplasia cutis congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab... |
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. |
Mutations in the CFTR gene cause congenital bilateral absence of the vas deferens. More than half of all men with this condition have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When congenital bilateral absence of the vas deferens occurs with CFTR mutations, it is considered a form ... |
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing diffi... |
Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most affected individuals have no history of the disorder in their family. |
Many agencies and organizations in the community provide assistance and information to people who have low vision and to their families and caregivers. State agencies for the blind and visually impaired can make referrals to a variety of organizations that provide assistance. Such services include vision rehabilitation... |
These resources address the diagnosis or management of hereditary angioedema: - Genetic Testing Registry: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor - Genetic Testing Registry: Hereditary angioneurotic edema - Genetic Testing Registry: Hereditary angioneurotic edema with normal C1 esterase in... |
How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders... |
The prevalence of neuroferritinopathy is unknown. Fewer than 100 individuals with this disorder have been reported. |
Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inherita... |
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 prevalence of the 22q11.2 duplication in the general population is difficult to determine. Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental ... |
Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of th... |
On the basis of the currently available information, avoiding food or water that may have been contaminated with feces is the best way to prevent cyclosporiasis. Treatment with chlorine or iodine is unlikely to kill Cyclospora oocysts. No vaccine for cyclosporiasis is available.
The U.S. Food and Drug Administrati... |
Central core disease is probably an uncommon condition, although its incidence is unknown. |
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or red... |
Yes. There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of... |
How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. |
Is a renal oncocytoma inherited? Most renal oncocytomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, in rare cases, they can occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Both of these conditions... |
COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. At least 50 individuals with this condition have been described in the scientific literature. |
What treatment is available for hairy tongue? Although hairy tongue normally resolves on its own, patients are encouraged to avoid the factors that have been shown to bring about hairy tongue. Treatment usually involves gentle cleaning of the tongue with a soft toothbrush. Medication is rarely prescribed for hairy ton... |
Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. For un... |
Squamous cell carcinoma develops in the squamous cells of the epidermis, the outer layer of the skin. It is much less common than basal cell carcinoma and is rarely life-threatening. Squamous cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and... |
FG syndrome is inherited in an X-linked recessive pattern. The genes likely associated with this disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.... |
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The location and size of the tumor. - Whether the cancer has just been diagnosed or has recurred (come back). |
Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins (a protein complex) that binds to DNA and controls the activity... |
Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein co... |
Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your bod... |
The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition. Other genes that have not been identified may be involved in moyamoya disease. It is also likely that other factors (su... |
These resources address the diagnosis or management of 5-alpha reductase deficiency: - Genetic Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the d... |
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an incre... |
Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a... |
What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neuro... |
Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); a... |
Radiation therapy uses high-energy x-rays or other types of radiation to kill cancer cells and shrink tumors. This therapy often follows a lumpectomy, and is sometimes used after mastectomy. During radiation therapy, a machine outside the body sends high-energy beams to kill the cancer cells that may still be present i... |
How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit... |
Intranuclear rod myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. |
15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the general population. It appears to be more common in people with intellectual disability, epilepsy, schizophrenia, or autism spectrum disorders. |
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. |
Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment... |
Memory problems are typically one of the first signs of Alzheimers disease, though different people may have different initial symptoms. A decline in other aspects of thinking, such as finding the right words, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimers... |
This condition is responsible for 1 percent to 2 percent of all infertility in men. |
What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BO... |
If a child has a normal urinary tract, parents can help the child avoid UTIs by encouraging regular trips to the bathroom. The parents should make sure the child gets enough to drink if infrequent urination is a problem. The child should be taught proper cleaning techniques after using the bathroom to keep bacteria fro... |
Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies -- immune system cells that fight off bacteria and viruses -- mistakenly attack healthy body tissues and organs. In APS, specific antibodies activate the inner lining of blood vessels, which leads to the formation of blood clots in arterie... |
Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the dis... |
The NINDS supports research on disorders of the autonomic nervous system, including multiple system atrophy with orthostatic hypotension. This research is aimed at developing techniques to diagnose, treat, and prevent these disorders. Currently there are ongoing treatment trials of drugs to treat MSA. |
Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocep... |
Mutations in the FLNA gene cause otopalatodigital syndrome type 2. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called... |
If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your cha... |
What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie disease. 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 ... |
Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown. |
Schizophrenia is a serious brain illness. People who have it may hear voices that aren't there. They may think other people are trying to hurt them. Sometimes they don't make sense when they talk. The disorder makes it hard for them to keep a job or take care of themselves. Symptoms of schizophrenia usually start be... |
What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcom... |
Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation... |
The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals. |
X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the bod... |
Type A insulin resistance syndrome is estimated to affect about 1 in 100,000 people worldwide. Because females have more health problems associated with the condition, it is diagnosed more often in females than in males. |
Shprintzen-Goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) gene mutations and occurs in people with no history of the disorder in their family. Very rarely, people with... |
PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing ... |
These resources address the diagnosis or management of rapid-onset dystonia parkinsonism: - Gene Review: Gene Review: Rapid-Onset Dystonia-Parkinsonism - Genetic Testing Registry: Dystonia 12 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... |
What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated... |
These resources address the diagnosis or management of Pol III-related leukodystrophy: - Eastman Dental Hospital: Hypodontia Clinic - Gene Review: Gene Review: Pol III-Related Leukodystrophies - Genetic Testing Registry: Pol III-related leukodystrophy - Johns Hopkins Medicine: Treating Ataxia - National Ataxia Fou... |
The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a gr... |
IPEX syndrome is a rare disorder; its prevalence is unknown. |
Abdominal adhesions are diffi cult to prevent; however, certain surgical techniques can minimize abdominal adhesions.
Laparoscopic surgery decreases the potential for abdominal adhesions because several tiny incisions are made in the lower abdomen instead of one large incision. The surgeon inserts a la... |
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during ... |
HANAC syndrome is a rare condition, although the exact prevalence is unknown. At least six affected families have been described in the scientific literature. |
How is frontal fibrosing alopecia diagnosed? Frontal fibrosing alopecia is often suspected based on the presence of characteristic signs and symptoms. The diagnosis can be confirmed by examining a small sample of skin (skin biopsy) from the affected area. In some cases, laboratory studies may be ordered to rule out oth... |
C3 glomerulopathy is very rare, affecting 1 to 2 per million people worldwide. It is equally common in men and women. |
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