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Benign essential blepharospasm (BEB) 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. BEB begins graduall...
The prevalence of dystonia 6 is unknown. Studies indicate that it likely accounts for between 1 and 3 percent of all cases of dystonia. For reasons that are unclear, the disorder appears to be slightly more prevalent in females than in males.
This condition is very rare; only a few dozen affected individuals have been identified.
Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, ...
Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibr...
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increa...
An intestinal obstruction occurs when food or stool cannot move through the intestines. The obstruction can be complete or partial. There are many causes. The most common are adhesions, hernias, cancers, and certain medicines. Symptoms include - Severe abdominal pain or cramping - Vomiting - Bloating ...
These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resources from MedlinePlus offer information about the diagnosis and ma...
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 KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, i...
In comparison with accidental traumatic brain injury in infants, shaken baby injuries have a much worse prognosis. Damage to the retina of the eye can cause blindness. The majority of infants who survive severe shaking will have some form of neurological or mental disability, such as cerebral palsy or cognitive impairm...
These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions...
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to neurological diseases such as lipoid proteinosis in laboratories at the NIH, and also support additional research through grants to major medical institutions...
Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be...
Some studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals,...
Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and...
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to headaches at its laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. NINDS also supports and conducts studies to improv...
What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. If the information is available, the table below includes how often the symptom is seen in people ...
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding i...
These resources address the diagnosis or management of aromatase deficiency: - Genetic Testing Registry: Aromatase deficiency - MedlinePlus Encyclopedia: Ovarian Overproduction of Androgens These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos...
The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 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.
Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include - cramping - abdominal pain - nausea or vomiting - fever - chills - bloody stools Children with chronic diarrhea who have malabsorption can experience - ...
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.
What are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. 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...
These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offer information about the diagnosis and management of various hea...
What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the struc...
Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at...
These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health condi...
What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D,...
Farber lipogranulomatosis is a rare disorder. About 80 cases have been reported worldwide.
These resources address the diagnosis or management of Vohwinkel syndrome: - Genetic Testing Registry: Mutilating keratoderma - Genetic Testing Registry: Vohwinkel syndrome, variant form These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic...
Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). DSAP usually starts during the third or fo...
Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with two mutated copies of the DPYD gene in each cell may exhibit the signs and symptoms of this disorder, or t...
The cause of sarcoidosis isn't known. More than one factor may play a role in causing the disease. Some researchers think that sarcoidosis develops if your immune system responds to a trigger, such as bacteria, viruses, dust, or chemicals. Normally, your immune system defends your body...
Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the...
The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known. Kawasaki disease can't be passed from one child to another. Your chil...
Home care is care that allows a person with special needs stay in their home. It might be for people who are getting older, are chronically ill, recovering from surgery, or disabled. Home care services include - Personal care, such as help with bathing, washing your hair, or getting dressed - Homemaking, such ...
What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. 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 Dic...
Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss. Pancreatic cancer may not cause early signs or symptoms. Signs and symptoms may be caused by pancreatic cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yell...
Treatment is available after accurate diagnosis. Your doctor will provide prescription medication, either praziquantel or niclosamide, which is taken by mouth. The medication is also available in a children’s dosage. Work with your health care provider for proper treatment options for you and your family. More on:...
HID is a rare disorder. Its prevalence is unknown.
SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature.
Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortag...
How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this delet...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically 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 ...
The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. Symptoms of prostate cancer may incl...
These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health ...
Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and...
Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.
Juvenile polyposis syndrome occurs in approximately 1 in 100,000 individuals worldwide.
Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features,...
Summary : An arrhythmia is any disorder of your heart rate or rhythm. It means that your heart beats too quickly, too slowly, or with an irregular pattern. Most arrhythmias result from problems in the electrical system of the heart. If your arrhythmia is serious, you may need a cardiac pacemaker or an implantable cardi...
What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. ...
Yes. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. Sun exposure is the major known environmental factor associated with the development of skin cancer ...
What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebs...
Yes. Some skin cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Clinical trials are research studies with people to find out whether a new drug, therapy, or treatment is both safe and effective. Ne...
Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. Indigestion is common in adults and can occur once in a while or as often as every day.
Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common. HDL2 is the second most common and occurs almost exclusively in people of African herit...
Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes t...
Smell is part of our chemical sensing system. Our sense of smell is the ability to detect odors in our environment through our nose, like the fragrance of flowers or the smell of baking bread. Smell is also the ability to detect food odors or aromas released in our mouths when we chew, which then flow from the roof of ...
Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due ...
Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have been described. Outside this population, only a few affected individuals have been identified.
To find the cause of diarrhea, the health care provider may - perform a physical exam - ask about any medicines you are taking - test your stool or blood to look for bacteria, parasites, or other signs of disease or infection - ask you to stop eating certain foods to see whether your diarrhea goes a...
Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. In conditions that are caused by repeated segments of DNA, the number of repeats often increases...
How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and ...
Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are 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 t...
Mutations in the ALPL gene cause hypophosphatasia. The ALPL gene provides instructions for making an enzyme called alkaline phosphatase. This enzyme plays an essential role in mineralization of the skeleton and teeth. Mutations in the ALPL gene lead to the production of an abnormal version of alkaline phosphatase that...
The National Eye Institute scientists are - studying the possibility of transplanting healthy cells into a diseased retina - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease - looking at certain anti-inflammatory treatments for the wet form of AMD. stu...
Summary : Pain relievers are medicines that reduce or relieve headaches, sore muscles, arthritis, or other aches and pains. There are many different pain medicines, and each one has advantages and risks. Some types of pain respond better to certain medicines than others. Each person may also have a slightly different r...
Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2.
What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tum...
Cystic fibrosis (CF) affects both males and females and people from all racial and ethnic groups. However, the disease is most common among Caucasians of Northern European descent. CF also is common among Latinos and American Indians, especially the Pueblo and Zuni. The disease is less common among Afr...
What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes.
Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.
How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS1 inherit one mu...
What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium,...
21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods,...
Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely. The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging.
Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able...
Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide.
Signs and symptoms of laryngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by laryngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat or cough that does not go away. - Trouble or pain when swallowing. ...
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.
Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could b...
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the live...
It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 people, and the prevalence of other paragangliomas is 1 in 1 million people. These statistics include syndromic and nonsyndromic paraganglioma and pheochromocytoma.
Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population.
Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such a...
Yes. Both treatments are very effective in reducing vision loss. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Although both treatments have high success rates, they do not cure diabetic retinopathy. Once you have proliferati...
Researchers have not found a way to prevent childhood nephrotic syndrome when the cause is idiopathic or congenital.
These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearin...
Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems. This condition may be a milder variation of glucose-galactose mala...
For severe heart failure, patients may require additional oxygen, a mechanical heart pump, or a heart transplant.
Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently. It is far more common in women than in men. The symptoms vary from person to person. Some people may have pain without urgency or frequency. Others have urgency and frequency without pa...
Summary : Cloning describes the processes used to create an exact genetic replica of another cell, tissue or organism. The copied material, which has the same genetic makeup as the original, is referred to as a clone. The most famous clone was a Scottish sheep named Dolly. There are three different types of cloning:...
A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. If you're in ...