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LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin; (E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss. There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Some cases are inherited from a parent in an autosomal dominant pattern. Other times, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.
Factors related to eating, diet, and nutrition that increase the risk of gallstones include - obesity - rapid weight loss - diets high in calories and refi ned carbohydrates and low in fi ber People can decrease their risk of gallstones by maintaining a healthy weight through proper diet and nutrition. Ursodiol can help prevent gallstones in people who rapidly lose weight through low-calorie diets or bariatric surgery. People should talk with their health care provider or dietitian about what diet is right for them.
Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both are more common in women than in men. They almost always affect people over the age of 50. Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include - Headaches - Pain and tenderness over the temples - Double vision or visual loss, dizziness - Problems with coordination and balance - Pain in your jaw and tongue Your doctor will make the diagnosis based on your medical history, symptoms, and a physical exam. There is no single test to diagnose giant cell arteritis, but you may have tests that measure inflammation. Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Is genetic testing available for schwannomas? Genetic testing is not available for many individuals with schwannomas since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to schwannomas such as certain types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 2 and schwannomatosis. 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 health care provider or a genetics professional. How are schwannomas diagnosed? In addition to a complete physical exam and medical history, the following tests may be necessary to diagnose a schwannoma: x-ray, ultrasound, and/or magnetic resonance imaging (MRI). Some people may also need a biopsy of the tumor to confirm the diagnosis.
Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The type of lymphoma. - Where the tumor is in the body when the tumor is diagnosed. - The stage of the cancer. - Whether there are certain changes in the chromosomes. - The type of initial treatment. - Whether the lymphoma responded to initial treatment. - The patients age and general health.
This condition 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) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.
Treatment for fecal incontinence may include one or more of the following: - eating, diet, and nutrition - medications - bowel training - pelvic floor exercises and biofeedback - surgery - electrical stimulation
Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ears called tinnitus, hearing loss that comes and goes and the feeling of ear pressure or pain. It usually affects just one ear. It is a common cause of hearing loss. Attacks of dizziness may come on suddenly or after a short period of tinnitus or muffled hearing. Some people have single attacks of dizziness once in a while. Others may have many attacks close together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is so bad they lose their balance and fall. Scientists don't yet know the cause. They think that it has to do with the fluid levels or the mixing of fluids in the canals of your inner ear. Doctors diagnose it based on a physical exam and your symptoms. A hearing test can check to see how it has affected your hearing. There is no cure. Treatments include medicines to control dizziness, limiting salt in your diet, and taking water pills. A device that fits into the outer ear and delivers air pulses to the middle ear can help. Severe cases may require surgery. NIH: National Institute on Deafness and Other Communication Disorders
Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. About 1 percent of the United States population carries one mutated copy and one normal copy of the ATM gene in each cell. These individuals are called carriers. Although ATM mutation carriers do not have ataxia-telangiectasia, they are more likely than people without an ATM mutation to develop cancer; female carriers are particularly at risk for developing breast cancer. Carriers of a mutation in the ATM gene also may have an increased risk of heart disease.
How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.
What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Prosopagnosia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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.
Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals. Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention deficit disorder (ADD), or attention deficit hyperactivity disorder (ADHD). Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.
These resources address the diagnosis or management of alpha-1 antitrypsin deficiency: - Alpha-1 Foundation: Testing for Alpha-1 - Cleveland Clinic Respiratory Institute - Gene Review: Gene Review: Alpha-1 Antitrypsin Deficiency - GeneFacts: Alpha-1 Antitrypsin Deficiency: Diagnosis - GeneFacts: Alpha-1 Antitrypsin Deficiency: Management - Genetic Testing Registry: Alpha-1-antitrypsin deficiency - MedlinePlus Encyclopedia: Alpha-1 antitrypsin deficiency - MedlinePlus Encyclopedia: Pulmonary function tests - MedlinePlus Encyclopedia: Wheezing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.
These resources address the diagnosis or management of Waldenstrm macroglobulinemia: - American Cancer Society: How is Waldenstrom Macroglobulinemia Diagnosed? - American Cancer Society: How is Waldenstrom Macroglobulinemia Treated? - Genetic Testing Registry: Waldenstrom macroglobulinemia - MD Anderson Cancer Center - MedlinePlus Encyclopedia: Macroglobulinemia of Waldenstrom These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs' syndrome. Plasma exchange may provide short-term relief for individuals with some forms of the acquired disorder.
What causes Tylosis with esophageal cancer? Mutations in the RHBDF2 gene have been shown to cause the development of this condition.
These resources address the diagnosis or management of permanent neonatal diabetes mellitus: - Gene Review: Gene Review: Permanent Neonatal Diabetes Mellitus - Genetic Testing Registry: Pancreatic agenesis, congenital - Genetic Testing Registry: Permanent neonatal diabetes mellitus - University of Chicago Kovler Diabetes Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Many people have no visible signs or symptoms of diabetes. Symptoms can also be so mild that you might not notice them. More than 5 million people in the United States have type 2 diabetes and do not know it. - increased thirst - increased hunger - fatigue - increased urination, especially at night - unexplained weight loss - blurred vision - sores that do not heal
Summary : A metabolic panel is a group of tests that measures different chemicals in the blood. These tests are usually done on the fluid (plasma) part of blood. The tests provide information about your body's chemical balance and metabolism. They can give doctors information about your muscles (including the heart), bones, and organs, such as the kidneys and liver. There are two types: basic metabolic panel (BMP) and comprehensive metabolic panel (CMP). The BMP checks your blood sugar, calcium, and electrolytes. The BMP also has tests such as creatinine to check your kidney function. The CMP includes all of those tests, as well as tests of your cholesterol, protein levels, and liver function. You probably need to fast (not eat any food) before the test. Your doctor will tell you how to prepare for the test you are having.
Carpenter syndrome is thought to be a rare condition; approximately 70 cases have been described in the scientific literature.
Medications affect older people differently than younger people because aging changes how the body and brain handle these substances. As we age, our bodies change and cannot break down and get rid of substances as easily as before. This means that even a small amount of a medicine or a drug can have a strong effect. If you take medications the wrong way or abuse illicit drugs, this can have a serious effect on your health and make existing health problems worse. As people age, they may also become more sensitive to alcohols effects. For more information on the dangers of mixing alcohol and medicines, see Alcohol Use and Older Adults."
Divorce is the legal breakup of a marriage. Like every major life change, divorce is stressful. It affects finances, living arrangements, household jobs, schedules, and more. If the family includes children, they may be deeply affected.
The first symptoms usually include burning, itching, or tingling sensations on the back, chest, or around the rib cage or waist. In other cases, it can be the face or eye area that is involved. The affected area can become extremely painful. This is when most people go to a healthcare provider to find out what is causing the pain. Some people report feeling feverish and weak during the early stages. Usually within 48 to 72 hours, a red, blotchy rash develops on the affected area. The rash erupts into small blisters that look like chickenpox. The blisters tend to be clustered in one specific area, rather than being scattered all over the body like chickenpox. The torso or face are the parts most likely to be affected, but on occasion, shingles breaks out in the lower body. The burning sensation in the rash area is often accompanied by shooting pains. After the blisters erupt, the open sores take a week or two to crust over. The sores are usually gone within another two weeks. The pain may diminish somewhat, but it often continues for months -- and can go on for years.
These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: - Baby's First Test: Severe Combined Immunodeficiency - Genetic Testing Registry: Purine-nucleoside phosphorylase deficiency - National Marrow Donor Program These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Sjgren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. Women develop Sjgren syndrome about 10 times more often than men; the specific reason for this difference is unknown but likely involves the effects of sex hormones on immune system function.
Pyelonephritis is treated with antibiotics, which may need to be taken for several weeks. While a urine sample is sent to a lab for culture, the health care provider may begin treatment with an antibiotic that fights the most common types of bacteria. Once culture results are known and the bacteria is clearly identified, the health care provider may switch the antibiotic to one that more effectively targets the bacteria. Antibiotics may be given through a vein, orally, or both. Urinary tract obstructions are often treated with surgery. Severely ill patients may be hospitalized and limited to bed rest until they can take the fluids and medications they need on their own. Fluids and medications may be given intravenously during this time. In adults, repeat urine cultures should be performed after treatment has ended to make sure the infection does not recur. If a repeat test shows infection, another 14-day course of antibiotics is prescribed; if infection recurs again, antibiotics are prescribed for 6 weeks.
Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses. Giant axonal neuropathy generally appears in infancy or early childhood. It progresses slowly as neuronal injury becomes more severe. Signs of giant axonal neuropathy usually begin in the peripheral nervous system, which governs movement and sensation in the arms, legs, and other parts of the body. Most individuals with this disorder first have problems with walking. Later they may lose sensation, coordination, strength, and reflexes in their limbs. Hearing and visual problems may also occur. Extremely kinky hair (as compared to others in the family) is characteristic of giant axonal neuropathy, occurring in almost all affected people. As the disorder progresses, the brain and spinal cord (central nervous system) may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures.
It is difficult to determine the prevalence of hyperprolinemia type I because most people with the condition do not have any symptoms. Hyperprolinemia type II is a rare condition; its prevalence is also unknown.
X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns.
What are the symptoms of silicosis? Symptoms of silicosis may include: Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight loss Night Sweats Chest pains
Idiopathic inflammatory myopathy is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Researchers have identified variations in several genes that may influence the risk of developing idiopathic inflammatory myopathy. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to affect the risk of developing idiopathic inflammatory myopathy. Researchers are studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing idiopathic inflammatory myopathy. It is likely that specific genetic variations increase a person's risk of developing idiopathic inflammatory myopathy, and then exposure to certain environmental factors triggers the disorder. Infection, exposure to certain medications, and exposure to ultraviolet light (such as sunlight) have been identified as possible environmental triggers, but most risk factors for this condition remain unknown.
These resources address the diagnosis or management of COL4A1-related brain small-vessel disease: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Brain small vessel disease with hemorrhage These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1.
What causes von Willebrand disease? Von Willebrand disease is typically an inherited disease caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These mutations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected individual (known as a de novo mutation). Another form of the disorder, often considered a separate condition, is called acquired von Willebrand syndrome (AVWS). AVWS is not caused by gene mutations. This condition is typically seen in conjunction with other disorders and usually begins in adulthood. A list of disorders associated with AVWS is available from UpToDate.
Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age.It is important to understand what to expect. Some changes may just be part of normal aging, while others may be a warning sign of a medical problem. It is important to know the difference, and to let your healthcare provider know if you have any concerns. Having a healthy lifestyle can help you to deal with normal aging changes and make the most of your life.
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. Most reported cases have occurred in people with no known history of the disorder in their family and may result from new mutations in the gene.
Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy.
What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.
The ideal treatment for AS coordinates therapies that address the three core symptoms of the disorder: poor communication skills, obsessive or repetitive routines, and physical clumsiness. There is no single best treatment package for all children with AS, but most professionals agree that the earlier the intervention, the better. An effective treatment program builds on the childs interests, offers a predictable schedule, teaches tasks as a series of simple steps, actively engages the childs attention in highly structured activities, and provides regular reinforcement of behavior. It may include social skills training, cognitive behavioral therapy, medication for co-existing conditions, and other measures.
The signs and symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Signs and symptoms may not appear for 10 to 40 or more years after exposure to asbestos. If you have pleural plaque, you may not have any signs or symptoms. Pleural effusion may cause pain on one side of the chest. Both conditions often are found with a chest x ray. These conditions may occur earlier than other asbestos-related lung diseases. The main symptom of asbestosis is shortness of breath with physical exertion. You also may have a dry cough and feel tired. If your doctor listens to your lungs with a stethoscope, he or she may hear a crackling sound when you breathe in. The symptoms of lung cancer may include a worsening cough or a cough that won't go away, trouble breathing, ongoing chest pain, and coughing up blood. Other symptoms of lung cancer include frequent lung infections, fatigue (tiredness), and weight loss without a known cause. Symptoms of mesothelioma include shortness of breath and chest pain due to pleural effusion.
These resources address the diagnosis or management of Griscelli syndrome: - Genetic Testing Registry: Griscelli syndrome type 1 - Genetic Testing Registry: Griscelli syndrome type 2 - Genetic Testing Registry: Griscelli syndrome type 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The possibilities for treatment depend on the specific subtype of congenital myasthenia. Most treatments attempt to improve the signaling between nerve cell and muscle. These drugs include pyridostigmine, fluoxetine, ephedrine, and 3,4-diaminopyridine. Treatments to alter the immune system are not used for this form of myasthenia. There are no treatments to cure the underlying genetic abnormality.
Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male.
What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.
How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint.
In the United States, an average of 145 cases are reported each year.Of these, approximately 15% are foodborne, 65% are infant botulism, and 20% are wound. Adult intestinal colonization and iatrogenic botulism also occur, but rarely. Outbreaks of foodborne botulism involving two or more persons occur most years and are usually caused by home-canned foods. Most wound botulism cases are associated with black-tar heroin injection, especially in California.
There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections.
Chagas disease is caused by the parasite Trypanosoma cruzi, which is transmitted to animals and people by insect vectors that are found only in the Americas (mainly, in rural areas of Latin America where poverty is widespread). Chagas disease (T. cruzi infection) is also referred to as American trypanosomiasis. It is estimated that as many as 8 million people in Mexico, Central America, and South America have Chagas disease, most of whom do not know they are infected. If untreated, infection is lifelong and can be life threatening. The impact of Chagas disease is not limited to the rural areas in Latin America in which vectorborne transmission occurs. Large-scale population movements from rural to urban areas of Latin America and to other regions of the world have increased the geographic distribution and changed the epidemiology of Chagas disease. In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies should focus on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby (congenital transmission).
What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-, which is found in a specific part of the stomach, the superficial gastric epithelium, might play a role.
What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.
Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Ambras syndrome has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.
Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes. Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.
- Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. - Anemia commonly occurs in people with chronic kidney disease (CKD)the permanent, partial loss of kidney function. Most people who have total loss of kidney function, or kidney failure, have anemia. - When kidneys are diseased or damaged, they do not make enough erythropoietin (EPO). As a result, the bone marrow makes fewer red blood cells, causing anemia. - Other common causes of anemia in people with kidney disease include blood loss from hemodialysis and low levels of the following nutrients found in food: - iron - vitamin B12 - folic acid - The first step in treating anemia is raising low iron levels. - If blood tests indicate kidney disease as the most likely cause of anemia, treatment can include injections of a genetically engineered form of EPO. - Many people with kidney disease need iron supplements and EPO to raise their red blood cell count to a level that will reduce the need for red blood cell transfusions. - A health care provider may suggest vitamin B12 and folic acid supplements for some people with CKD and anemia. - A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets.
What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles). For example, the protein helps regulate the process by which cells mature to carry out specific functions (differentiation) within the pancreas, testes, and muscles. In the developing brain, it plays many different roles such as assisting with the movement of neurons to their final locations. Specific changes in the ARX gene impair the function of the protein, which may disrupt the normal development of many different parts of the body. This can lead to the many signs and symptoms associated with Proud syndrome.
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes). Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma. Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.
Choroideremia is inherited in an X-linked recessive pattern. The CHM gene 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 two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Females who carry a CHM mutation may show small areas of cell loss within the retina that can be observed during a thorough eye examination. These changes can impair vision later in life.
Summary : Every year thousands of people in the U.S. die from motor vehicle crashes. Trying to prevent these crashes is one part of motor vehicle safety. Here are some things you can do to be safer on the road: - Make sure your vehicle is safe and in working order - Use car seats for children - Wear your seat belt - Don't speed or drive aggressively - Don't drive impaired Safety also involves being aware of others. Share the road with bicycles and motorcycles, and watch for pedestrians.
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. However, some people who inherit the altered gene never develop features of SVAS. (This situation is known as reduced penetrance.) In some cases, a person inherits the mutation from one parent who has the mutation. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
The prevalence of mitochondrial complex III deficiency is unknown, although the condition is thought to be rare.
Rheumatoid arthritis can be difficult to diagnose in its early stages because the full range of symptoms develops over time, and only a few symptoms may be present in the early stages. As part of the diagnosis, your doctor will look for symptoms such as swelling, warmth, pain, and limitations in joint motion throughout your body. Your doctor may ask you questions about the intensity of your pain symptoms, how often they occur, and what makes the pain better or worse.
These resources address the diagnosis or management of sitosterolemia: - Gene Review: Gene Review: Sitosterolemia - Genetic Testing Registry: Sitosterolemia - Massachusetts General Hospital: Lipid Metabolism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. This will help drain the extra fluid.[5182] In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of care and are implemented soon after birth in 93-95% of patients.
These resources address the diagnosis or management of frontonasal dysplasia: - Genetic Testing Registry: Frontonasal dysplasia 1 - Genetic Testing Registry: Frontonasal dysplasia 2 - Genetic Testing Registry: Frontonasal dysplasia 3 - KidsHealth from Nemours: Cleft Lip and Palate - MedlinePlus Encyclopedia: Head and Face Reconstruction - Mount Sinai Hospital: Cleft Nasal Deformity - University of Rochester Medical Center: Nasal Alveolar Molding These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.
Pain may be a symptom, especially among people with more advanced Paget's disease. Affected bones also can become enlarged, misshapen, and more fragile and likely to break. Misshapen bones tend to be most noticeable in the legs, skull, and spine.
How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. Customized vestibular therapy like optokinetic stimulation has been effective in some cases. In recent years, a renewed interest in understanding the underlying cause of MdDS has led to new treatment options, including repetitive cranial stimulation. More studies into these treatment options are needed.
Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering clinical and research genetic testing for ALS on a Web site called GeneTests. To see GeneTests' list of the types of ALS for which genetic testing is available, click here. Click on "Testing" next to each type of ALS of interest to see a list of the laboratories that offer clinical testing. Click on "Research" next to each type of ALS of interest to see a list of the laboratories that offer research testing. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.
Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that carry lymph fluid). While the cause of hereditary lymphedema type II is unknown, it is thought to be genetic because it tends to run in families. It appears to have an autosomal dominant pattern of inheritance.
What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cerebral amyloid angiopathy - Dementia - Hypertonia - Progressive neurologic deterioration - Rigidity - Spasticity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Pubic ("crab") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat. The following are steps that can be taken to help prevent and control the spread of pubic ("crab") lice: - All sexual contacts of the infested person should be examined. All those who are infested should be treated. - Sexual contact between the infested person(s)s and their sexual partner(s) should be avoided until all have been examined, treated as necessary, and reevaluated to rule out persistent infestation. - Machine wash and dry clothing worn and bedding used by the infested person in the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. - Do not share clothing, bedding, and towels used by an infested person. - Do not use fumigant sprays or fogs; they are not necessary to control pubic ("crab") lice and can be toxic if inhaled or absorbed through the skin. Persons with pubic lice should be examined and treated for any other sexually transmitted diseases (STDs) that may be present.
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.
Antiphospholipid antibody syndrome (APS) can affect people of any age. The disorder is more common in women than men, but it affects both sexes. APS also is more common in people who have other autoimmune or rheumatic disorders, such as lupus. ("Rheumatic" refers to disorders that affect the joints, bones, or muscles.) About 10 percent of all people who have lupus also have APS. About half of all people who have APS also have another autoimmune or rheumatic disorder. Some people have APS antibodies, but don't ever have signs or symptoms of the disorder. The mere presence of APS antibodies doesn't mean that you have APS. To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder. However, people who have APS antibodies but no signs or symptoms are at risk of developing APS. Health problems, other than autoimmune disorders, that can trigger blood clots include: Smoking Prolonged bed rest Pregnancy and the postpartum period Birth control pills and hormone therapy Cancer and kidney disease
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.
How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals with hypoaldosteronism and a deficiency of adrenal glucocorticoid hormones are usually given fludrocortisone. People with hyporeninemic hypoaldosteronism are frequently given furosemide to correct hyperkalemia.
In very few families, people develop AD in their 30s, 40s, and 50s. This is known as "early onset" AD. These individuals have a mutation in one of three different inherited genes that causes the disease to begin at an earlier age. More than 90 percent of AD develops in people older than 65. This form of AD is called "late-onset" AD, and its development and pattern of damage in the brain is similar to that of early-onset AD. The course of this disease varies from person to person, as does the rate of decline. In most people with AD, symptoms first appear after age 65. We don't yet completely understand the causes of late-onset AD, but they probably include genetic, environmental, and lifestyle factors. Although the risk of developing AD increases with age, AD and dementia symptoms are not a part of normal aging. There are also some forms of dementia that aren't related to brain diseases such as AD, but are caused by systemic abnormalities such as metabolic syndrome, in which the combination of high blood pressure, high cholesterol, and diabetes causes confusion and memory loss.
These resources address the diagnosis or management of Majeed syndrome: - Gene Review: Gene Review: Majeed Syndrome - Genetic Testing Registry: Majeed syndrome - MedlinePlus Encyclopedia: Osteomyelitis - MedlinePlus Encyclopedia: Psoriasis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
These resources address the diagnosis or management of mitochondrial complex III deficiency: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 - Genetic Testing Registry: Mitochondrial complex III deficiency - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 2 - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 3 - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 4 - Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Transmission of AHFV is not well understood. AHFV is a zoonotic virus, and its described tick hosts (the soft tick Ornithodoros savignyi and the hard tick Hyalomma dromedari) are widely distributed. People can become infected through a tick bite or when crushing infected ticks. Epidemiologic studies indicate that contact with domestic animals or livestock may increase the risk of human infection. No human-to-human transmission of AHF has been documented. Although livestock animals may provide blood meals for ticks, it is thought that they play a minor role in transmitting AHFV to humans. No transmission through non-pasteurized milk has been described, although other tick-borne flaviviruses have been transmitted to humans through this route.
Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. Mental development is usually normal, though a few cases with intellectual impairment have been reported. The signs and symptoms of Hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings. Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.[1][2] People with Hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications. In some cases, treatment with nicotinamide supplements and tryptophan ethyl ester may be indicated.
How is autoimmune atrophic gastritis diagnosed? A diagnosis of autoimmune atrophic gastritis is generally not suspected until characteristic signs and symptoms are present. Additional testing can then be ordered to confirm the diagnosis. This generally includes: A biopsy of the affected tissue obtained through endoscopy Blood work that demonstrates autoantibodies against certain cells of the stomach
Danon disease is a rare condition, but the exact prevalence is unknown.
Bullying is when a person or group repeatedly tries to harm someone who is weaker or who they think is weaker. Sometimes it involves direct attacks such as hitting, name calling, teasing or taunting. Sometimes it is indirect, such as spreading rumors or trying to make others reject someone. Often people dismiss bullying among kids as a normal part of growing up. But bullying is harmful. It can lead children and teenagers to feel tense and afraid. It may lead them to avoid school. In severe cases, teens who are bullied may feel they need to take drastic measures or react violently. Others even consider suicide. For some, the effects of bullying last a lifetime. Centers for Disease Control and Prevention
Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 can be divided into two subtypes differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. Individuals with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS1 is caused by mutations in the HSPG2 gene which makes a protein called perlecan. SJS1 is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for both type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as Botulinum toxin, and surgery. There is a more severe, distinct condition called Stuve-Wiedemann syndrome which is caused by mutations in the LIFR gene. At one time cases of Stuve-Wiedemann syndrome were referred to as Neonatal Schwartz Jampel syndrome type 2. Click on the link above to learn more about this syndrome.
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 dyskeratosis congenita: - Gene Review: Gene Review: Dyskeratosis Congenita - Genetic Testing Registry: Dyskeratosis congenita - Genetic Testing Registry: Dyskeratosis congenita X-linked - Genetic Testing Registry: Dyskeratosis congenita autosomal dominant - Genetic Testing Registry: Dyskeratosis congenita autosomal recessive 1 - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
An increased risk of developing FXPOI is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, which is one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXPOI. In females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell can lead to the disorder. However, not all women who inherit an FMR1 premutation will develop FXPOI. Because males do not have ovaries, they are unaffected.
Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause familial porencephaly result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without normal type IV collagen are unstable, leading to weakening of the tissues that they surround. In people with familial porencephaly, the vasculature in the brain weakens, which can lead to blood vessel breakage and hemorrhagic stroke. Bleeding within the brain is followed by the formation of fluid-filled cysts characteristic of this condition. It is thought that the pressure and stress on the head during birth contributes to vessel breakage in people with this condition; however in some individuals, bleeding in the brain can occur before birth.
The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in 500,000 people per year in the United States. The atypical form is probably about 10 times less common than the typical form.
When dopa-responsive dystonia is caused by mutations in the GCH1 gene, 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Some people who inherit the altered GCH1 gene never develop features of dopa-responsive dystonia. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. For unknown reasons, dopa-responsive dystonia caused by mutations in the GCH1 gene affects females two to four times more often than males. When TH gene mutations are responsible for causing dopa-responsive dystonia, it 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. When dopa-responsive dystonia is caused by mutations in the SPR gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance.
Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. Other genetic and environmental factors likely influence the severity of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however.
Is genetic testing available for spinocerebellar ataxia 2? Yes. Molecular genetic testing (analysis of DNA) is needed for a diagnosis of spinocerebellar ataxia 2 (SCA2). This testing detects abnormal CAG trinucleotide repeat expansions in the ATXN2 gene. Affected people (or people who will later develop symptoms of SCA2) have a copy of the ATXN2 gene that has 33 or more CAG repeats. This testing detects nearly 100% of cases of SCA2. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for SCA2. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies.
These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand further details about the disease and prognosis.

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