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This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promot...
These resources address the diagnosis or management of TAR syndrome: - Gene Review: Gene Review: Thrombocytopenia Absent Radius Syndrome - Genetic Testing Registry: Radial aplasia-thrombocytopenia syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information ab...
Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, a...
Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive musc...
Though there is no cure for IBS, the symptoms can be treated with a combination of the following: - changes in eating, diet, and nutrition - medications - probiotics - therapies for mental health problems
Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein ...
The only treatment needed for most foodborne illnesses is replacing lost fluids and electrolytes to prevent dehydration. Over-the-counter medications such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. However, people with bloody diarrh...
Mutations in the WAS gene cause Wiskott-Aldrich syndrome. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's st...
How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear imp...
How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CC...
Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatome...
Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. It may happen after an injury, either to a nerve or to tissue in the affected area. Rest and time may only make it worse. Symptoms in the affected area are - Dramatic changes in...
Diet and health history can affect the risk of developing small intestine cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you t...
Interstitial cystitis*painful bladder syndrome (IC/PBS) is one of several conditions that causes bladder pain and a need to urinate frequently and urgently. Some doctors have started using the term bladder pain syndrome (BPS) to describe this condition. Your bladder is a balloon-shaped organ where your...
This condition is usually 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 caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused ...
How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. When chronic inflammation becomes a prominent f...
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce, store, and...
Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results ...
Conservative management means your doctors take care of you without dialysis or a transplant. The doctors may give you medicines that make you feel more comfortable. You can have conservative management in your home. You may want to go to a hospice, a special place where you receive nursing care. Some people choose con...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The type of plasma cell neoplasm. - The stage of the disease. - Whether a certain immunoglobulin (antibody) is present. - Whether there are certain genetic changes...
What are the signs and symptoms of Trigger thumb? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigger thumb. 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 loo...
The prevalence of XMEN is unknown. Only a few affected individuals have been described in the medical literature.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for JMML depend on the following: - The age of the child at diagnosis. - The number of platelets in the blood. - The amount of a certain type of hemoglobin in red blood cel...
Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population.
Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells. Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary. The average age of women at the time of diagnosis is 60 to 70 years. Symptoms may include pain in t...
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 AGL gene cause GSDIII. The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, which is a major source of stored energy in the body. Between meals the body breaks down stores of energy, such as glycogen, to use for fuel. Most...
Blood clots can form in your body's deep veins if: A vein's inner lining is damaged. Injuries caused by physical, chemical, or biological factors can damage the veins. Such factors include surgery, serious injuries, inflammation, and immune responses. Blood flow is sluggish or slow. La...
The first step in a substance treatment program is often detoxification (detox), the process of allowing the body to get rid of the substance. Detoxification under medical supervision allows the symptoms of withdrawal to be treated, but is not addiction treatment in and of itself. (Withdrawal is the sick, sometimes unb...
Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The proteins produced from these genes are channels that allow positively charged atoms (cations) into and out of cells. Both channels are abundant in heart (cardiac) cells and play key roles in th...
Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and sym...
Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium l...
These resources address the diagnosis or management of cranioectodermal dysplasia: - Gene Review: Gene Review: Cranioectodermal Dysplasia - Genetic Testing Registry: Cranioectodermal dysplasia 1 - Genetic Testing Registry: Cranioectodermal dysplasia 2 - Genetic Testing Registry: Cranioectodermal dysplasia 3 - Gene...
How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor.
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 chronic atrial and intestinal dysrhythmia: - Children's Hospital of Pittsburgh: Chronic Intestinal Pseudo-obstruction - Genetic Testing Registry: Chronic atrial and intestinal dysrhythmia - MedlinePlus Encyclopedia: Heart Pacemakers - MedlinePlus Health Topic: ...
Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromoso...
What causes mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) is caused by mutations in the EFTUD2 gene. This gene gives the body instructions for making part of spliceosomes, which help process a type of RNA- a chemical cousin of DNA that serves as a genetic blueprint fo...
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 do not show signs and symptoms of the condition.
GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.
Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment.
In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. It is the leading cause of cancer deaths, accounting f...
Signs of vulvar cancer include bleeding or itching. Vulvar cancer often does not cause early signs or symptoms. Signs and symptoms may be caused by vulvar cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or growth on the vulva. - Changes in the vulvar skin, suc...
Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia...
These resources address the diagnosis or management of vitiligo: - Genetic Testing Registry: Vitiligo - Vitiligo Support International: Vitiligo Treatments and Research These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The...
Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the cen...
During fetal development, a babys kidneys first appear as buds inside the pelvisthe bowl-shaped bone that supports the spine and holds up the digestive, urinary, and reproductive organsnear the bladder. As the kidneys develop, they move gradually toward their usual position in the back near the rib cage. Sometimes, one...
How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney...
Age-related macular degeneration has an estimated prevalence of 1 in 2,000 people in the United States and other developed countries. The condition currently affects several million Americans, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increase...
How might tubular aggregate myopathy be treated?
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.
Age and a previous molar pregnancy affect the risk of GTD. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. ...
What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell.
Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton du...
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. Most types cause dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Scratching the skin can cause it to turn red, and to swell and itch even more. Eczema is not con...
Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the sympt...
What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature.
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 methylmalonic acidemia with homocystinuria: - Baby's First Test: Methylmalonic Acidemia with Homocystinuria - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TY...
Sometimes breast cancer occurs in women who are pregnant or have just given birth. Breast cancer occurs about once in every 3,000 pregnancies. It occurs most often between the ages of 32 and 38.
These resources address the diagnosis or management of Meier-Gorlin syndrome: - Genetic Testing Registry: Meier-Gorlin syndrome - Genetic Testing Registry: Meier-Gorlin syndrome 2 - Genetic Testing Registry: Meier-Gorlin syndrome 3 - Genetic Testing Registry: Meier-Gorlin syndrome 4 - Genetic Testing Registry: Mei...
If you spend time outdoors or have pets that go outdoors, you need to beware of ticks. Ticks are small bloodsucking parasites. Many species transmit diseases to animals and people. Some of the diseases you can get from a tick bite are Lyme disease, ehrlichiosis, Rocky Mountain spotted fever and tularemia. Some tick...
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Children grow at different rates, so it isn't always easy to know when a child is obese or overweight. Ask...
These resources address the diagnosis or management of MEGDEL syndrome: - Baby's First Test: 3-Methylglutaconic Aciduria - Gene Review: Gene Review: MEGDEL Syndrome - Genetic Testing Registry: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome These resources from MedlinePlus offer ...
Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.
What are the signs and symptoms of Thin basement membrane nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Thin basement membrane nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use...
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydro...
What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long Q...
Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease. Enzyme replacement therapy can reduce lipid storage, ease pain, and preserve organ function in some individuals with the disorder. The pain that accompanies the disease may be treated with anticonvu...
Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood a...
What are the signs and symptoms of Familial eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial eosinophilia. 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 D...
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled mus...
These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ...
There is no cure for autism. Therapies and behavioral interventions are designed to remedy specific symptoms and can bring about substantial improvement. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of individual children. Treatment options include educational/bahavioral...
- Cirrhosis is scarring of the liver. Scar tissue replaces healthy liver tissue. - Some common causes of cirrhosis include heavy alcohol use, hepatitis infections, and nonalcoholic fatty liver disease. - In the early stages of cirrhosis, you may have no symptoms. As the disease gets worse, cirrhosis can cause serious...
- Nephrotic syndrome includes the following: - proteinurialarge amounts of protein in the urine - hyperlipidemiahigher than normal fat and cholesterol levels in the blood - edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face - hypoalbuminialow levels albumin in the...
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.
Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow ...
Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cel...
Summary : Potassium is a mineral that the body needs to work normally. It helps nerves and muscles communicate. It also helps move nutrients into cells and waste products out of cells. A diet rich in potassium helps to offset some of sodium's harmful effects on blood pressure. Most people get all the potassium they ...
Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), ...
Drusen alone do not usually cause vision loss. In fact, scientists are unclear about the connection between drusen and AMD. They do know that an increase in the size or number of drusen raises a person's risk of developing either advanced dry AMD or wet AMD. These changes can cause serious vision loss.
X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown.
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 (whether the cancer is in the inner lining of the colon only or has spread through the colon wall, or has spread to lymph nodes...
Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS has established an Arteriovenous Study Group to learn more about the natural causes of...
How might a urachal cyst be treated? In many cases, the diagnosis of a urachal cyst is only made when there are complications such as infection. Although some cases of infected urachal cysts have reportedly resolved without any intervention, surgical treatment is generally recommended which involves draining the cyst. ...
The cause of most adult brain and spinal cord tumors is not known.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends mostly on the stage of the cancer and the type of treatment used to remove the cancer. Treatment options depend on the following: - The stage of the cancer (whether it has spread deeper into...
Your trachea, or windpipe, is one part of your airway system. Airways are pipes that carry oxygen-rich air to your lungs. They also carry carbon dioxide, a waste gas, out of your lungs. When you inhale, air travels from your nose, through your larynx, and down your windpipe. The windpipe splits into two bronchi tha...
How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urin...
These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Recessive - Gene Review: Gene Review: Hereditary Coproporphy...
How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. If the tumo...
Summary : You see them all the time in the news - the number of people who were in the hospital last year, the percentage of kids who are overweight, the rate at which people are catching the flu, the average cost of a medical procedure. These are all types of health statistics. Health statistics are numbers about s...
Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within ce...
What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the b...
Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Circulation problems from atherosclerosis or diabetes. They may cause you to need an amputation. - Traumatic injuries, including from traffic accidents and military combat - Cancer - Birth defects ...
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 a parent and other family members with the condition.
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms ...
Task-specific focal dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of musicians.