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What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
The main symptoms of viral gastroenteritis are - watery diarrhea - vomiting Other symptoms include - headache - fever - chills - abdominal pain Symptoms usually appear within 12 to 48 hours after exposure to a gastroenteritis-causing virus and last for 1 to 3 days. Some viruses cause symptoms that last longer.
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner. Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury.
These resources address the diagnosis or management of congenital hypothyroidism: - Baby's First Test - Genetic Testing Registry: Congenital hypothyroidism - Genetic Testing Registry: Hypothyroidism, congenital, nongoitrous, 1 - MedlinePlus Encyclopedia: Congenital Hypothyroidism 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
Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people.
What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.
Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. To remain in a stable or normal position, the shoulder must be anchored by muscles, tendons and ligaments. Because the shoulder can be unstable, it is the site of many common problems. They include sprains, strains, dislocations, separations, tendinitis, bursitis, torn rotator cuffs, frozen shoulder, fractures and arthritis. Usually shoulder problems are treated with RICE. This stands for Rest, Ice, Compression and Elevation. Other treatments include exercise, medicines to reduce pain and swelling, and surgery if other treatments don't work. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body. With pituitary disorders, you often have too much or too little of one of your hormones. Injuries can cause pituitary disorders, but the most common cause is a pituitary tumor.
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, 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.
The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms.
In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The JAG1 and NOTCH2 genes provide instructions for making proteins that fit together to trigger interactions called Notch signaling between neighboring cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Changes in either the JAG1 gene or NOTCH2 gene probably disrupt the Notch signaling pathway. As a result, errors may occur during development, especially affecting the bile ducts, heart, spinal column, and certain facial features.
NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. The process can stop and, in some cases, reverse on its own without specific therapy. Or NASH can slowly worsen, causing scarring or fibrosis to appear and accumulate in the liver. As fibrosis worsens, cirrhosis develops; the liver becomes seriously scarred, hardened, and unable to function normally. Not every person with NASH develops cirrhosis, but once serious scarring or cirrhosis is present, few treatments can halt the progression. A person with cirrhosis experiences fluid retention, muscle wasting, bleeding from the intestines, and liver failure. Liver transplantation is the only treatment for advanced cirrhosis with liver failure, and transplantation is increasingly performed in people with NASH. NASH ranks as one of the major causes of cirrhosis in America, behind hepatitis C and alcoholic liver disease.
There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.
Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by the presence of an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.
Children with early infantile GM1 often die by age 3 from cardiac complications or pneumonia. Children with the early-onset form of Tay-Sachs disease may eventually need a feeding tube and often die by age 4 from recurring infection. Children with Sandhoff disease generally die by age 3 from respiratory infections.
There are four major blood types: A, B, O, and AB. The types are based on substances on the surface of the blood cells. Another blood type is called Rh. Rh factor is a protein on red blood cells. Most people are Rh-positive; they have Rh factor. Rh-negative people don't have it. Rh factor is inherited though genes. When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. It will create antibodies (proteins) against the baby's blood. These antibodies usually don't cause problems during a first pregnancy. But Rh incompatibility may cause problems in later pregnancies, if the baby is Rh-positive. This is because the antibodies stay in your body once they have formed. The antibodies can cross the placenta and attack the baby's red blood cells. The baby could get Rh disease, a serious condition that can cause a serious type of anemia. Blood tests can tell whether you have Rh factor and whether your body has made antibodies. Injections of a medicine called Rh immune globulin can keep your body from making Rh antibodies. It helps prevent the problems of Rh incompatibility. If treatment is needed for the baby, it can include supplements to help the body to make red blood cells and blood transfusions. NIH: National Heart, Lung, and Blood Institute
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.
Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks. No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery. Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute lymphocytic leukemia (ALL), also called acute lymphoblastic leukemia, there are too many of specific types of white blood cells called lymphocytes or lymphoblasts. ALL is the most common type of cancer in children. Possible risk factors for ALL include being male, being white, previous chemotherapy treatment, exposure to radiation, and for adults, being older than 70. Symptoms of ALL include: - Weakness or feeling tired - Fever - Easy bruising or bleeding - Bleeding under the skin - Shortness of breath - Weight loss or loss of appetite - Pain in the bones or stomach - Pain or a feeling of fullness below the ribs - Painless lumps in the neck, underarm, stomach, or groin Tests that examine the blood and bone marrow diagnose ALL. Treatments include chemotherapy, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back. NIH: National Cancer Institute
A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF. More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease. How Is Cystic Fibrosis Inherited? Every person inherits two CFTR genesone from each parent. Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children. The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children. Example of an Inheritance Pattern for Cystic Fibrosis
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders: - Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example. - Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder. - Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine
If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious cases may even lead to amputation. Damage to the blood vessels can also mean that your feet do not get enough blood and oxygen. It is harder for your foot to heal, if you do get a sore or infection. You can help avoid foot problems. First, control your blood sugar levels. Good foot hygiene is also crucial: - Check your feet every day - Wash your feet every day - Keep the skin soft and smooth - Smooth corns and calluses gently - If you can see, reach, and feel your feet, trim your toenails regularly. If you cannot, ask a foot doctor (podiatrist) to trim them for you. - Wear shoes and socks at all times - Protect your feet from hot and cold - Keep the blood flowing to your feet NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What are the signs and symptoms of Roch-Leri mesosomatous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Roch-Leri mesosomatous lipomatosis. 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) Abnormality of the skin 90% 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.
Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.
These resources address the diagnosis or management of EA/TEF: - Boston Children's Hospital: Esophageal Atresia - Children's Hospital of Wisconsin - Gene Review: Gene Review: Esophageal Atresia/Tracheoesophageal Fistula Overview - Genetic Testing Registry: Tracheoesophageal fistula - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair - University of California, San Francisco (UCSF) Medical 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
The prognosis for CRPS varies from person to person. Spontaneous remission from symptoms occurs in certain individuals. Others can have unremitting pain and crippling, irreversible changes in spite of treatment.
Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of having another affected child is increased compared with the risk in the general population.
Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts. SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition. Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.
Many patients experience complete to near-complete relief of symptoms following physician-supervised medical treatment. Paroxysmal hemicrania may last indefinitely but has been known to go into remission or stop spontaneously.
Cone-rod dystrophy is usually 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. Less frequently, 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 of these cases, an affected person has one parent with the condition. Rarely, cone-rod dystrophy is inherited in an X-linked recessive pattern. The genes associated with this form of the condition are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with one copy of the altered gene have mild vision problems, such as decreased visual acuity. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Exercising is good for you, but sometimes you can injure yourself when you play sports or exercise. Accidents, poor training practices, or improper gear can cause them. Some people get hurt because they are not in shape. Not warming up or stretching enough can also lead to injuries. The most common sports injuries are - Sprains and strains - Knee injuries - Swollen muscles - Achilles tendon injuries - Pain along the shin bone - Rotator cuff injuries - Fractures - Dislocations If you get hurt, stop playing. Continuing to play or exercise can cause more harm. Treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on the X or Y chromosome, but genes in areas known as the pseudoautosomal regions are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.
What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[133]
Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. Mercury is in many products. Metallic mercury is used in glass thermometers, silver dental fillings, and button batteries. Mercury salts may be used in skin creams and ointments. It's also used in many industries. Mercury in the air settles into water. It can pass through the food chain and build up in fish, shellfish, and animals that eat fish. The nervous system is sensitive to all forms of mercury. Exposure to high levels can damage the brain and kidneys. Pregnant women can pass the mercury in their bodies to their babies. It is important to protect your family from mercury exposure: - Carefully handle and dispose of products that contain mercury - Limit your consumption of fish with higher levels of mercury Agency for Toxic Substances and Disease Registry
These resources address the diagnosis or management of enlarged parietal foramina: - Gene Review: Gene Review: Enlarged Parietal Foramina - Genetic Testing Registry: Parietal foramina - Genetic Testing Registry: Parietal foramina 1 - Genetic Testing Registry: Parietal foramina 2 - MedlinePlus Encyclopedia: Skull of a Newborn 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
Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves from osteoporosis by increasing exercise and calcium intake through diet or supplements and by not smoking. Women treated for hyperprolactinemia may want to have periodic bone density measurements and discuss estrogen replacement therapy or other bone-strengthening medications with their doctor.
Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means that having one "copy" of a genetic change in each cell is enough to cause the disorder. In some cases, an affected person inherits the genetic change from a parent. In other cases, the change occurs for the first time in an affected person. When a person with a genetic change that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the genetic change. In other families, the condition is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements) and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 million new cases of basal cell carcinoma are diagnosed each year in the United States, fewer than 1 percent of these skin cancers are related to Gorlin syndrome.
Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight lines and seeing objects as smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.
Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks. Children with chronic diarrhea may have loose, watery stools continually, or diarrhea may come and go. Chronic diarrhea may go away without treatment, or it may be a symptom of a chronic disease or disorder. Treating the disease or disorder can relieve chronic diarrhea. Chronic diarrhea can affect children of any age: - infantsages 0 to 12 months - toddlersages 1 to 3 years - preschool-age childrenages 3 to 5 years - grade school-age childrenages 5 to 12 years - adolescentsages 12 to 18 years Diarrhea that lasts only a short time is called acute diarrhea. Acute diarrhea, a common problem, usually lasts a few days and goes away on its own. More information about acute diarrhea is provided in the NIDDK health topics: - Diarrhea - What I need to know about Diarrhea
How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies to evaluate the brain for structural abnormalities and severe hydrocephalus (accumulation of fluid in the brain).
What are the signs and symptoms of Hooft disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hooft disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Growth abnormality - Intellectual disability - Leukonychia - Tapetoretinal degeneration - 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 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.
Triple A syndrome is a rare condition, although its exact prevalence is unknown.
Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants. This leads to extensive scarring that blocks the airways, leading to a dry cough, shortness of breath, fatigue and wheezing in the absence of a cold or asthma. While there is no way to reverse the disease, treatments are available to stabilize or slow the progression. Another similarly named disease, bronchiolitis obliterans organizing pneumonia, is a completely different disease.
Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year.
What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases.
COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to the body's organs and tissues, or when a complication, such as a severe infection, occurs. Treatment for COPD may help prevent complications, prolong life, and improve a person's quality of life.
The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid.
Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.
Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.
How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.' In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia.
Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts. The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.
These resources address the diagnosis or management of SCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency - Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Newborn Screening Tests 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
These resources address the diagnosis or management of microphthalmia with linear skin defects syndrome: - Gene Review: Gene Review: Microphthalmia with Linear Skin Defects Syndrome - Genetic Testing Registry: Microphthalmia, syndromic, 7 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
Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. These and other signs and symptoms may be caused by atypical CML or by other conditions. Check with your doctor if you have any of the following: - Shortness of breath. - Pale skin. - Feeling very tired and weak. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Pain or a feeling of fullness below the ribs on the left side.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the brain. CADASIL is characterized by migraine headaches and multiple strokes, which progresses to dementia. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Individuals may also be at higher risk of heart attack. Symptoms and disease onset vary widely, with signs typically appearing in the mid-30s. Some individuals may not show signs of the disease until later in life. CADASIL is caused by a change (or mutation) in a gene called NOTCH3 and is inherited in an autosomal dominant manner.
Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with other lifestyle and environmental factors. Studies suggest that a number of different genes may be involved in determining a persons likelihood of developing the disease, which tissues and organs are affected, and the severity of disease. The treatment of lupus depends on the severity of the condition and what parts of the body are affected. Treatment may include acetaminophen, ibuprofen, antimalarial drugs, anti-inflammatory steroids, and/or immunosuppressive drugs.
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 LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy 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 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 is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dyslexia research through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat dyslexia and other learning disabilities, increasing the understanding of the biological and possible genetic bases of learning disabilities, and exploring the relationship between neurophysiological processes and cognitive functions with regard to reading ability.
Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. This type of hearing loss involves damage to the inner ear and is permanent. Tinnitus, also common in older people, is the ringing, roaring, clicking, hissing, or buzzing sound in the ears frequently caused by presbycusis, exposure to loud noise or certain medications. Tinnitus can accompany any type of hearing loss. It also can be a sign of other important health problems, too, such as allergies and problems in the heart and blood vessels. Tinnitus may come and go, or stop altogether.
These resources address the diagnosis or management of Weyers acrofacial dysostosis: - Genetic Testing Registry: Curry-Hall 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
Summary : Severe winter weather can lead to health and safety challenges. You may have to cope with - Cold related health problems, including frostbite and hypothermia - Household fires and carbon monoxide poisoning from space heaters and fireplaces - Unsafe driving conditions from icy roads - Power failures - Floods after snow and ice melt Although there are no guarantees of safety during winter weather emergencies, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Centers for Disease Control and Prevention
Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.
C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein can also be found deposited throughout the kidneys. It has been thought to be a subgroup of primary focal segmental glomerulosclerosis or to be a combination of several disease groups rather than a single disease. As a disease, it is very similar to minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). Criteria diagnosis includes C1q deposits on the kidney and no evidence of systemic lupus erythematosus. Both children and adult patients may have no symptoms, except for the presence of blood or protein in the urine, or present with swelling of the feet and legs, high blood pressure and kidney insufficiency. The treatment of C1q nephropathy is the same as for MCD or FSGS and includes corticosteroids and other immunosuppressive agents. Further research is needed to establish C1q nephropathy as a recognized distinct clinical entity.
Summary : Medicaid is government health insurance that helps many low-income people in the United States to pay their medical bills. The Federal government sets up general guidelines for the program, but each state has its own rules. Your state might require you to pay a part of the cost for some medical services. You have to meet certain requirements to get Medicaid help. These might involve - Your age - Whether you are pregnant, disabled, or blind - Your income and resources - Whether or not you are a U.S. citizen or, if not, what your immigration status is Centers for Medicare and Medicaid Services
Summary : How well you and your doctor communicate with each other is one of the most important parts of getting good health care. Being prepared can help make the most of your visit. Here are some things you can bring: - Lists of your concerns, any allergies and all the medicines, herbs, or vitamins you take - A description of symptoms - when they started, what makes them better - A trusted friend or family member - A way to take notes during your appointment Make sure you understand your diagnosis and any treatments. Ask your health care provider to write down his or her instructions to you. If you still have trouble understanding, ask where you can go for more information.
Treatment of Dyssynergia Cerebellaris Myoclonica is symptomatic. Myoclonus and seizures may be treated with drugs like valproate.
About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder. In the absence of a mutation in the FGFR3 gene, the cause of hypochondroplasia is unknown. Researchers suspect that mutations in other genes are involved, although these genes have not been identified.
These resources address the diagnosis or management of 15q24 microdeletion: - Gene Review: Gene Review: 15q24 Microdeletion - Genetic Testing Registry: 15q24 deletion 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
An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional. The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers advise counseling.
The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist.
These resources address the diagnosis or management of hereditary multiple osteochondromas: - Gene Review: Gene Review: Hereditary Multiple Osteochondromas - Genetic Testing Registry: Multiple congenital exostosis - Genetic Testing Registry: Multiple exostoses type 2 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 are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and lasts for 1-2 hours. Other signs and symptoms may include: Headache Anxiety Tiredness Fainting Heart palpitations Wheezing Joint pain Low blood pressure In very severe cases, exposure to cold could lead to loss of consciousness, shock or even death.
Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.
Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.
The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition.
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.
Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.
The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower.
There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. The best treatment for MID is prevention early in life eating a healthy diet, exercising, not smoking, moderately using alcohol, and maintaining a healthy weight.
Summary : Do you know if your current weight is healthy? "Underweight", "normal", "overweight", and "obese" are all labels for ranges of weight. Obese and overweight mean that your weight is greater than it should be for your health. Underweight means that it is lower than it should be for your health. Your healthy body weight depends on your sex and height. For children, it also depends on your age. A sudden, unexpected change in weight can be a sign of a medical problem. Causes for sudden weight loss can include - Thyroid problems - Cancer - Infectious diseases - Digestive diseases - Certain medicines Sudden weight gain can be due to medicines, thyroid problems, heart failure, and kidney disease. Good nutrition and exercise can help in losing weight. Eating extra calories within a well-balanced diet and treating any underlying medical problems can help to add weight.
Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.
Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible.
Treating the underlying cause of the disorder may improve symptoms. However, the encephalopathy may cause permanent structural changes and irreversible damage to the brain. Some encephalopathies can be fatal.
How might carnitine palmitoyltransferase I deficiency be treated? Treatment of hypoketotic hypoglycemic attacks due to carnitine palmitoyltransferase I deficiency often involves prompt treatment with intravenous 10% dextrose.
What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. 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) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult onset - 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.
The symptoms of NPH usually get worse over time if the condition is not treated, although some people may experience temporary improvements. While the success of treatment with shunts varies from person to person, some people recover almost completely after treatment and have a good quality of life. Early diagnosis and treatment improves the chance of a good recovery. Without treatment, symptoms may worsen and cause death.
Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern.
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time. In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.
Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein called monoclonal protein is detected in the blood. MGUS typically does not cause any problems, although some affected people may experience numbness, tingling or weakness. In some cases, MGUS may progress over time to certain forms of blood cancer (such as multiple myeloma, macroglobulinemia, or B-cell lymphoma). MGUS is thought to be a multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. People with MGUS are usually monitored closely to ensure that the levels of monoclonal protein do not rise and other problems do not develop. Those with stable levels of monoclonal protein typically do not require treatment.
Radiation therapy uses high-energy x-rays to kill cancer cells and shrink tumors. Doctors may recommend it instead of surgery or after surgery to destroy any cancer cells that may remain in the area. In advanced stages, the doctor may recommend it to relieve pain or other symptoms. Radiation can cause problems with impotence and bowel function. The radiation may come from a machine, which is external radiation, or from tiny radioactive seeds placed inside or near the tumor, which is internal radiation. Men who receive only the radioactive seeds usually have small tumors. Some men receive both kinds of radiation therapy. For external radiation therapy, patients go to the hospital or clinic -- usually 5 days a week for several weeks. Internal radiation may require patients to stay in the hospital for a short time.
These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy 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
These resources address the diagnosis or management of progressive supranuclear palsy: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy - NHS Choices (UK): Treatment of Progressive Supranuclear Palsy - Partners in Parkinson's: Movement Disorder Specialist Finder - University of California, San Francisco (UCSF) Memory and Aging 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
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Peyronies disease.
These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 1 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 2 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 3 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 4 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 5 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 6 - MedlinePlus Encyclopedia: Hemolytic Anemia - MedlinePlus Encyclopedia: Hemolytic-Uremic Syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You 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