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Summary : The prostate is the gland below a man's bladder that produces fluid for semen. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. There is no standard screening test for prostate cancer. Researchers are studying different tests to find those with...
These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry: MECP2 duplication syndrome These resources from MedlinePlus...
These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ...
Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The...
Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups.
SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa. Van Buchem disease has been reported in approximately...
Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy.
Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. The transportation of amino acids from the small int...
These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilita...
The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed.
How is Opitz G/BBB syndrome diagnosed? The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. Molecular genetic testing for mutati...
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.
The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will b...
These resources address the diagnosis or management of hypohidrotic ectodermal dysplasia: - Gene Review: Gene Review: Hypohidrotic Ectodermal Dysplasia - Genetic Testing Registry: Autosomal dominant hypohidrotic ectodermal dysplasia - Genetic Testing Registry: Autosomal recessive hypohidrotic ectodermal dysplasia sy...
The NINDS supports a broad range of research on neuromuscular disorders such as thyrotoxic myopathy. Much of this research is aimed at learning more about these disorders and finding ways to prevent and treat them.
Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to ari...
These resources address the diagnosis or management of Coffin-Lowry syndrome: - Gene Review: Gene Review: Coffin-Lowry Syndrome - Genetic Testing Registry: Coffin-Lowry syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -...
Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It...
People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications o...
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 patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back).
How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X ...
Cutis laxa is a rare disorder. About 200 affected families worldwide have been reported.
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal ...
How might Milroy disease be treated? There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or...
The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease.
Herpes is an infection that is caused by a herpes simplex virus (HSV). Oral herpes causes cold sores around the mouth or face. Genital herpes affects the genitals, buttocks or anal area. Genital herpes is a sexually transmitted disease (STD). It affects the genitals, buttocks or anal area. Other herpes infections can a...
How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autos...
Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls ...
Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include - Getting older - Being small and thin - Having ...
Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature.
MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.
Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide.
Alport syndrome occurs in approximately 1 in 50,000 newborns.
How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specifi...
The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males.
Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachm...
Dentures are false teeth made to replace teeth you have lost. Dentures can be complete or partial. Complete dentures cover your entire upper or lower jaw. Partials replace one or a few teeth. Advances in dentistry have made many improvements in dentures. They are more natural looking and comfortable than they used t...
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and sy...
Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may inc...
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. Individuals who ...
There is no cure for GSS, nor are there any known treatments to slow progression of the disease. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible.
Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and...
Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra ch...
Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, interm...
These resources address the diagnosis or management of Arts syndrome: - Gene Review: Gene Review: Arts Syndrome - Genetic Testing Registry: Arts syndrome - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources fr...
These resources address the diagnosis or management of lattice corneal dystrophy type II: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Meretoja syndrome - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus...
These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niemann-Pick disease type C1 - Genetic Testing Registry: Niemann-Pick dis...
What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the in...
The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1...
The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never ...
Drusen are yellow deposits under the retina. They often are found in people over age 50. Your eye care professional can detect drusen during a comprehensive dilated eye exam.
Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully cont...
Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. Approximately 50 cases have been reported in the scientific literature.
An electrocardiogram (EKG) has no serious risks. It's a harmless, painless test that detects the heart's electrical activity. EKGs don't give off electrical charges, such as shocks. You may develop a mild rash where the electrodes (soft patches) were attached. This rash often goes away without treatmen...
Summary : Nuclear scans use radioactive substances to see structures and functions inside your body. They use a special camera that detects radioactivity. Before the test, you receive a small amount of radioactive material. You may get it as an injection. Sometimes you swallow it or inhale it. Then you lie still on ...
People may be able to reduce their chances of getting gastritis by preventing H. pylori infection. No one knows for sure how H. pylori infection spreads, so prevention is difficult. To help prevent infection, health care providers advise people to - wash their hands with soap and water after using the ...
Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry,...
You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of my taste problem? - What changes in my sense of taste did I notic...
Most children who develop hemolytic uremic syndrome and its complications recover without permanent damage to their health.1 However, children with hemolytic uremic syndrome may have serious and sometimes life-threatening complications, including - acute kidney injury - high blood pre...
Most cases of sick sinus syndrome are not inherited. They are described as sporadic, which means they occur in people with no history of the disorder in their family. When sick sinus syndrome results from mutations in the HCN4 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance me...
The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with - Movem...
The risk of cataract increases as you get older. Besides age, other risk factors for cataract include - certain diseases like diabetes - personal behavior like smoking or alcohol use - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoki...
Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social act...
Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it...
Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to stay healthy. They also involve extreme concern about your shape or weight. Types of eating disorders include - Anorexia nervosa, in which you become too thin, but you don't eat enough because you...
Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant mann...
These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus Encyclopedia: Pulmonary embolus These resources from MedlinePlu...
What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certai...
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of ...
Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.
These resources address the diagnosis or management of PPM-X syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests...
Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the sp...
Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) 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, a...
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. Thi...
Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdomi...
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. People with gluten sensitivity have problems with gluten. It is different from celiac disease, an immune disease in which people can't eat gluten because it will ...
Prognosis depends on the extent and severity of malformations. Intellectual impairment does not worsen. Individuals with a disorder of the corpus callosum typically have delays in attaining developmental milestones such as walking, talking, or reading; challenges with social interactions; clumsiness and poor motor coor...
Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in ...
Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person a...
Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach. If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn. Pregnancy, certain...
Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potenti...
Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ...
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 Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. If the information is available, the table below includes how often the symptom is seen in people with this conditio...
In many cases, PKD does not cause signs or symptoms until cysts are half an inch or larger. When present, the most common symptoms are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. Hematuriablood in the urinemay also be a sign of autosomal dom...
When you visit your doctor, here are questions to ask about your kidneys. - What is my GFR? - What is my urine albumin result? - What is my blood pressure? - What is my blood glucose (for people with diabetes)? What is my GFR? What is my urine albumin result? What is my blood pressure? What is my blood glucose (f...
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include - Loose joints - Fragile, small blood v...
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.
Croup is an inflammation of the vocal cords (larynx) and windpipe (trachea). It causes difficulty breathing, a barking cough, and a hoarse voice. The cause is usually a virus, often parainfluenza virus. Other causes include allergies and reflux. Croup often starts out like a cold. But then the vocal cords and windpi...
Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms.
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 may result from new mutations in the gene and occur in people with no hi...
Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin 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. In rare cases, the condition results from a new muta...
The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT 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...
Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as - bladder control problems - sexual problems Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the ...
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described in the scientific literature.
Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. For those who cannot tolerate the side effects, another NSAID...
Staph is short for Staphylococcus, a type of bacteria. There are over 30 types, but Staphylococcus aureus causes most staph infections (pronounced "staff infections"), including - Skin infections - Pneumonia - Food poisoning - Toxic shock syndrome - Blood poisoning (bacteremia) Skin infections a...
Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angel...
Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); h...
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial l...