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X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. Symptoms in the upper extremities are generally less severe and develop later. Intellect and life span are normal. CMTX5 is caused by a mutation in the PRPS1 gene. The condition is inherited in an X-linked recessive manner. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed.
What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. 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) Abdominal aortic aneurysm - 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 prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.
Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide.
The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.
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. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms.
Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide.
Shingles is very common. Fifty percent of all Americans will have had shingles by the time they are 80. While shingles occurs in people of all ages, it is most common in 60-to 80-year-olds. In fact, one out of every three people 60 years or older will get shingles.
These resources address the diagnosis or management of ALSP: - Gene Review: Gene Review: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - Genetic Testing Registry: Hereditary diffuse leukoencephalopathy with spheroids - MedlinePlus Encyclopedia: Dementia 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
X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.
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.
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning. Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome. In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.
What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias.
People who have P.A.D. may have symptoms when walking or climbing stairs. These may include pain, numbness, aching, or heaviness in the leg muscles. Symptoms may also include cramping in the affected leg(s) and in the buttocks, thighs, calves, and feet. Some possible signs of P.A.D. include - weak or absent pulses in the legs or feet - sores or wounds on the toes, feet, or legs that heal slowly - a pale or bluish color to the skin - poor nail growth on the toes and decreased hair growth on the legs - erectile dysfunction, especially among men who have diabetes. weak or absent pulses in the legs or feet sores or wounds on the toes, feet, or legs that heal slowly a pale or bluish color to the skin poor nail growth on the toes and decreased hair growth on the legs erectile dysfunction, especially among men who have diabetes.
Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some individuals may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most individuals. Delay in treatment may result in irreversible spinal cord injury.
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.
Corns and calluses are caused by pressure or friction on your skin. They often appear on feet where the bony parts of your feet rub against your shoes. Corns usually appear on the tops or sides of toes while calluses form on the soles of feet. Calluses also can appear on hands or other areas that are rubbed or pressed. Wearing shoes that fit better or using non-medicated pads may help. While bathing, gently rub the corn or callus with a washcloth or pumice stone to help reduce the size. To avoid infection, do not try to shave off the corn or callus. See your doctor, especially if you have diabetes or circulation problems. NIH: National Institute on Aging
Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.
Urinary tract infections affect about 3 percent of children in the United States every year. UTIs account for more than 1 million visits to pediatricians offices every year.1
The most common signs and symptoms of heart failure are: Shortness of breath or trouble breathing Fatigue (tiredness) Swelling in the ankles, feet, legs, abdomen, and veins in the neck All of these symptoms are the result of fluid buildup in your body. When symptoms start, you may feel tired and short of breath after routine physical effort, like climbing stairs. As your heart grows weaker, symptoms get worse. You may begin to feel tired and short of breath after getting dressed or walking across the room. Some people have shortness of breath while lying flat. Fluid buildup from heart failure also causes weight gain, frequent urination, and a cough that's worse at night and when you're lying down. This cough may be a sign of acute pulmonary edema (e-DE-ma). This is a condition in which too much fluid builds up in your lungs. The condition requires emergency treatment. Heart Failure Signs and Symptoms
Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. The steroid drug methylprednisolone appears to reduce the damage to nerve cells if it is given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities and counseling to provide social and emotional support.Electrical simulation of nerves by neural prosthetic devices may restore specific functions, including bladder, breathing, cough, and arm or leg movements, though eligibility for use of these devices depends on the level and type of the spinal cord injury.
- Hypothyroidism is a disorder that occurs when the thyroid gland does not make enough thyroid hormone to meet the bodys needs. Thyroid hormone regulates metabolism. Without enough thyroid hormone, many of the bodys functions slow down. - Hypothyroidism has several causes, including - Hashimotos disease - thyroiditis - congenital hypothyroidism - surgical removal of part or all of the thyroid - radiation treatment of the thyroid - some medications - Hypothyroidism has many symptoms that can vary from person to person. Some common symptoms of hypothyroidism are fatigue, weight gain, cold intolerance, constipation, impaired fertility, and depression. - Women are much more likely than men to develop hypothyroidism. - Women with hypothyroidism should discuss their condition with their health care provider before becoming pregnant. - Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.
Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Signs of prostate cancer include a weak flow of urine or frequent urination. - Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. The prostate is a gland in the male reproductive system. It lies just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland makes fluid that is part of the semen. Prostate cancer is most common in older men. In the U.S., about 1 out of 5 men will be diagnosed with prostate cancer.
This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 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. However, people who carry one altered copy of the PGAM2 gene may have some features of phosphoglycerate mutase deficiency, including episodes of exercise-induced muscle cramping and myoglobinuria.
Healthy people (nonpregnant) Most healthy people recover from toxoplasmosis without treatment. Persons who are ill can be treated with a combination of drugs such as pyrimethamine and sulfadiazine, plus folinic acid. Pregnant women, newborns, and infants Pregnant women, newborns, and infants can be treated, although the parasite is not eliminated completely. The parasites can remain within tissue cells in a less active phase; their location makes it difficult for the medication to completely eliminate them. Persons with ocular disease Persons with ocular toxoplasmosis are sometimes prescribed medicine to treat active disease by their ophthalmologist. Whether or not medication is recommended depends on the size of the eye lesion, the location, and the characteristics of the lesion (acute active, versus chronic not progressing). Persons with compromised immune systems Persons with compromised immune systems need to be treated until they have improvement in their condition. For AIDS patients, continuation of medication for the rest of their lives may be necessary, or for as long as they are immunosuppressed. More on: Resources for Health Professionals: Treatment
The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine out of the body. As men age, their prostate grows bigger. If it gets too large, it can cause problems. An enlarged prostate is also called benign prostatic hyperplasia (BPH). Most men will get BPH as they get older. Symptoms often start after age 50. BPH is not cancer, and it does not seem to increase your chance of getting prostate cancer. But the early symptoms are the same. Check with your doctor if you have - A frequent and urgent need to urinate, especially at night - Trouble starting a urine stream or making more than a dribble - A urine stream that is weak, slow, or stops and starts several times - The feeling that you still have to go, even just after urinating - Small amounts of blood in your urine Severe BPH can cause serious problems over time, such as urinary tract infections, and bladder or kidney damage. If it is found early, you are less likely to develop these problems. Tests for BPH include a digital rectal exam, blood and imaging tests, a urine flow study, and examination with a scope called a cystoscope. Treatments include watchful waiting, medicines, nonsurgical procedures, and surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40. Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss. Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough. At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.
Healthy lifestyle habits, proper use of medicines, and regular medical care can prevent high blood pressure or its complications. Preventing High Blood Pressure Onset Healthy lifestyle habits can help prevent high blood pressure from developing. It is important to check your blood pressure regularly. Children should have their blood pressure checked starting at 3 years of age. If prehypertension is detected, it should be taken seriously to avoid progressing to high blood pressure. Preventing Worsening High Blood Pressure or Complications If you have been diagnosed with high blood pressure, it is important to obtain regular medical care and to follow your prescribed treatment plan, which will include healthy lifestyle habit recommendations and possibly medicines. Not only can healthy lifestyle habits prevent high blood pressure from occurring, but they can reverse prehypertension and help control existing high blood pressure or prevent complications and long-term problems associated with this condition, such as coronary heart disease, stroke, or kidney disease.
The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. Three strategies are currently under investigation: gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream. Encouraging results have been obtained using these strategies.
The main goal of treatment is to thin the blood to reduce clotting. At present, the recommended treatment is low-dose aspirin. For individuals who have already had a stroke or experience recurrent clots, doctors recommend treatment with the anticoagulant warfarin. Pregnant women are treated with either aspirin or another anticoagulant -- heparin -- since warfarin can cause birth defects.
Factor V deficiency affects an estimated 1 in 1 million people. This condition is more common in countries such as Iran and southern India, where it occurs up to ten times more frequently than in western countries.
After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts. After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and encephalitis (inflammation of the brain). The case fatality rate of OHF is low (0.5% to 3%).
Diabetes and high blood pressure are the two leading risk factors for kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. There are several other risk factors for kidney disease. Cardiovascular (heart) disease is a risk factor. So is family history: if you have a mother, father, sister, or brother who has had kidney disease, then you are at increased risk. African Americans, Hispanics, and Native Americans tend to have a greater risk for kidney failure. This is mostly due to higher rates of diabetes and high blood pressure in these communities, although there may be other reasons. (Watch the video to learn more about the connection between heart disease and kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)
When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this condition, not the condition itself. Other cases of chordoma are sporadic, which means they occur in people with no history of the condition in their family.
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.
If you have ever had athlete's foot or a yeast infection, you can blame a fungus. A fungus is a primitive organism. Mushrooms, mold and mildew are examples. Fungi live in air, in soil, on plants and in water. Some live in the human body. Only about half of all types of fungi are harmful. Some fungi reproduce through tiny spores in the air. You can inhale the spores or they can land on you. As a result, fungal infections often start in the lungs or on the skin. You are more likely to get a fungal infection if you have a weakened immune system or take antibiotics. Fungi can be difficult to kill. For skin and nail infections, you can apply medicine directly to the infected area. Oral antifungal medicines are also available for serious infections. NIH: National Institute of Allergy and Infectious Diseases
These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - MedlinePlus Encyclopedia: Dementia 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
Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.
About 90 percent of RAS is caused by atherosclerosisclogging, narrowing, and hardening of the renal arteries.2 In these cases, RAS develops when plaquea sticky substance made up of fat, cholesterol, calcium, and other material found in the bloodbuilds up on the inner wall of one or both renal arteries. Plaque buildup is what makes the artery wall hard and narrow. Most other cases of RAS are caused by fibromuscular dysplasia (FMD)the abnormal development or growth of cells on the renal artery wallswhich can cause blood vessels to narrow. Rarely, RAS is caused by other conditions.
What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, when KFS occurs with other syndromes such as fetal alcohol syndrome, Goldenhar syndrome, Wildervanck syndrome or hemifacial microsomia, medical researchers believe KFS has the same cause as the associated syndrome. Isolated KFS (meaning not associated with another syndrome) can be sporadic or inherited. Although KFS may in some cases be caused by a combination of genetic and environmental factors, mutations in at least three genes have been linked to KFS: GDF6, GDF3 and MEOX1 gene.
The disorder may cause progressive, permanent visual loss in some patients. In some cases, pseudotumor cerebri recurs.
Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.
Auriculo-condylar syndrome appears to be a rare disorder. More than two dozen affected individuals have been described in the medical literature.
What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. 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 eye 90% Abnormality of the skin 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypotrichosis - X-linked inheritance - 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.
NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected.
While AI/ACD can affect people at any age, older adults are especially at risk because they have the highest rates of chronic disease. AI/ACD is also common among hospitalized patients, particularly those with chronic illnesses. More than 130 million Americans live with at least one chronic illness.2 Addressing the causes of anemia in people with chronic disease can help improve their health and quality of life.
You usually can't prevent acute pericarditis. You can take steps to reduce your chance of having another acute episode, having complications, or getting chronic pericarditis. These steps include getting prompt treatment, following your treatment plan, and having ongoing medical care (as your doctor advises).
Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure.
The prognosis for an individual with hemifacial spasm depends on the treatment and their response. Some individuals will become relatively free from symptoms with injection therapy. Some may require surgery. In most cases, a balance can be achieved, with tolerable residual symptoms.
Hemodialysis is a treatment for kidney failure that is done in a center several times per week. Some people learn to do hemodialysis in their homes. Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. With hemodialysis, your blood is filtered outside of your body. Unfiltered blood is removed from the body and flows to the dialyzer to be cleaned. Filtered blood flows back to the body. First, a dialysis nurse places two needles into your arm. A pump on the hemodialysis machine draws your blood through one of the needles into a tube. The tube takes the blood to a filter, called a dialyzer. Inside the dialyzer, your blood flows through thin fibers that are like straws. The wastes and extra fluid leave the blood through tiny holes in the fibers. Then, a different tube carries the filtered blood back to your body through the second needle. The hemodialysis machine throws out the wastes and extra fluid, just like how your body makes urine. Hemodialysis does not make the kidneys better. However, it may help you feel better by filtering your blood when your kidneys fail.
Summary : Marijuana is a green, brown, or gray mix of dried, crumbled parts from the marijuana plant. It can be rolled up and smoked like a cigarette or cigar or smoked in a pipe. Sometimes people mix it in food or inhale it using a vaporizer. Marijuana can cause problems with memory, learning, and behavior. Smoking it can cause some of the same coughing and breathing problems as smoking cigarettes. Some people get addicted to marijuana after using it for a while. It is more likely to happen if they use marijuana every day, or started using it when they were teenagers. Some states have approved "medical marijuana" to ease symptoms of various health problems. The U.S. Food and Drug Administration (FDA) has not approved the marijuana plant as a medicine. However, there have been scientific studies of cannabinoids, the chemicals in marijuana. This has led to two FDA-approved medicines. They contain THC, the active ingredient in marijuana. They treat nausea caused by chemotherapy and increase appetite in patients who have severe weight loss from HIV/AIDS. Scientists are doing more research with marijuana and its ingredients to treat many diseases and conditions. NIH: National Institute on Drug Abuse
Mutations in the GBE1 gene cause adult polyglucosan body disease. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most GBE1 gene mutations result in a shortage (deficiency) of the glycogen branching enzyme, which leads to the production of abnormal glycogen molecules. These abnormal glycogen molecules, called polyglucosan bodies, accumulate within cells and cause damage. Nerve cells (neurons) appear to be particularly vulnerable to the accumulation of polyglucosan bodies in people with this disorder, leading to impaired neuronal function. Some mutations in the GBE1 gene that cause adult polyglucosan body disease do not result in a shortage of glycogen branching enzyme. In people with these mutations, the activity of this enzyme is normal. How mutations cause the disease in these individuals is unclear. Other people with adult polyglucosan body disease do not have identified mutations in the GBE1 gene. In these individuals, the cause of the disease is unknown.
These resources address the diagnosis or management of Opitz G/BBB syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Gene Review: Gene Review: X-Linked Opitz G/BBB Syndrome - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Opitz-Frias syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Imperforate Anus 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
More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe.
These resources address the diagnosis or management of deoxyguanosine kinase deficiency: - Gene Review: Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Genetic Testing Registry: Mitochondrial DNA-depletion syndrome 3, hepatocerebral - MedlinePlus Encyclopedia: Hypotonia 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
Generally, treatment depends on the type of tumor, the size of the tumor, whether the tumor has invaded or pressed on surrounding structures, such as the brain and visual pathways, and the individuals age and overall health. Three types of treatment are used: surgical removal of the tumor; radiation therapy, in which high-dose x-rays are used to kill the tumor cells; and drug therapy to shrink or destroy the tumor. Medications are also sometimes used to block the tumor from overproducing hormones. For some people, removing the tumor will also stop the pituitarys ability to produce a specific hormone. These individuals will have to take synthetic hormones to replace the ones their pituitary gland no longer produces.
Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified.
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.
People who have conditions that damage the lungs or increase the risk of lung infections are at risk for bronchiectasis. Such conditions include: Cystic fibrosis. This disease leads to almost half of the cases of bronchiectasis in the United States. Immunodeficiency disorders, such as common variable immunodeficiency and, less often, HIV and AIDS. Allergic bronchopulmonary aspergillosis. This is an allergic reaction to a fungus called aspergillus. The reaction causes swelling in the airways. Disorders that affect cilia function, such as primary ciliary dyskinesia. Cilia are small, hair-like structures that line your airways. They help clear mucus (a slimy substance) out of your airways. Bronchiectasis can develop at any age. Overall, two-thirds of people who have the condition are women. However, in children, the condition is more common in boys than in girls.
These resources address the diagnosis or management of Langer-Giedion syndrome: - Genetic Testing Registry: Langer-Giedion 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
SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. The TMEM173 gene mutations that cause SAVI are described as "gain-of-function" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation that results in tissue damage, leading to the signs and symptoms of SAVI.
- You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. - Hemodialysis - Peritoneal dialysis - Kidney transplantation - Conservative management - None of these treatments helps the kidneys get better. However, they all can help you feel better. - Hemodialysis uses a machine to move your blood through a filter outside your body, removing wastes. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body, removing wastes. - Kidney transplantation is surgery to place a healthy kidney from a person who has just died or a living person, usually a family member, into your body to take over the job of filtering your blood. - Conservative management is the choice not to treat kidney failure with dialysis or a transplant. - All of the treatment options for kidney failure require changes and restrictions in your diet.
Diabetes is when your blood glucose, also called blood sugar, is too high. Blood glucose is the main type of sugar found in your blood and your main source of energy. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries glucose to all of your bodys cells to use for energy. Your pancreasan organ, located between your stomach and spine, that helps with digestionreleases a hormone it makes, called insulin, into your blood. Insulin helps your blood carry glucose to all your bodys cells. Sometimes your body doesnt make enough insulin or the insulin doesnt work the way it should. Glucose then stays in your blood and doesnt reach your cells. Your blood glucose levels get too high and can cause diabetes or prediabetes. Over time, having too much glucose in your blood can cause health problems. *See the Pronunciation Guide for tips on how to say the the words in bold type.
The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000.
Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease.
Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. The lack of these hormones in the body can be caused by reduction or cessation of corticosteroid medication, the surgical removal of pituitary tumors, or changes in the pituitary gland. Symptoms of secondary adrenal insufficiency may include severe fatigue, loss of appetite, weight loss, nausea, vomiting, diarrhea, muscle weakness, irritability, and depression. Treatment includes replacing the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of each affected individual.
Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. About 10 affected families have been identified worldwide.
Summary : Many people who chew tobacco or dip snuff think it's safer than smoking. But you don't have to smoke tobacco for it to be dangerous. Chewing or dipping carries risks like - Cancer of the mouth - Decay of exposed tooth roots - Pulling away of the gums from the teeth - White patches or red sores in the mouth that can turn to cancer Recent research shows the dangers of smokeless tobacco may go beyond the mouth. It might also play a role in other cancers, heart disease and stroke. Smokeless tobacco contains more nicotine than cigarettes. Nicotine is a highly addictive drug that makes it hard to stop using tobacco once you start. Having a quit date and a quitting plan can help you stop successfully. NIH: National Institute of Dental and Craniofacial Research
How might Rotor syndrome be treated? Rotor syndrome is considered a benign disorder and does not require treatment. While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people. People with Rotor syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their health care providers regarding drugs that should be avoided.
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, 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 chronic lymphocytic leukemia (CLL), there are too many lymphocytes, a type of white blood cell. CLL is the second most common type of leukemia in adults. It often occurs during or after middle age, and is rare in children. Usually CLL does not cause any symptoms. If you have symptoms, they may include - Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin - Fatigue - Pain or a feeling of fullness below the ribs - Fever and infection - Weight loss Tests that examine the blood, bone marrow, and lymph nodes diagnose CLL. Your doctor may choose to just monitor you until symptoms appear or change. Treatments include radiation therapy, chemotherapy, surgery to remove the spleen, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute
This condition appears to be rare; only a few affected individuals have been reported worldwide.
If your eyes dont make enough tears it can cause dry eye. Anything that changes the components of tears can cause dry eye. Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of eye surgery, environmental factors, and allergies.
Is Hashimoto's syndrome inherited? The inheritance pattern of Hashimoto's syndrome is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto's syndrome or another autoimmune disorder likely increases a person's risk of developing the condition.
Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. Some people with primary CIPO have gain or loss of genetic material in the FLNA gene. The diagnosis of CIPO is clinical and other conditions with similar symptoms should be ruled out. Treatment may include nutritional support, medications, decompression or surgery. Management may require specialists from a variety of backgrounds.
The exact incidence of MPS VII is unknown, although it is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis.
These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1K 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 craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.
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.
Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. The exact cause of polymyositis is unknown; however, the disease shares many characteristics with autoimmune disorders which occur when the immune system mistakenly attacks healthy body tissues. It some cases, the condition may be associated with viral infections, malignancies, or connective tissue disorders. Although there is no cure for polymyositis, treatment can improve muscle strength and function.
Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The location of the coloboma depends on the part of the optic fissure that failed to close. Coloboma may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with coloboma have been identified only in very small numbers of affected individuals. The risk of coloboma may also be increased by environmental factors that affect early development, such as exposure to alcohol during pregnancy. In these cases, affected individuals usually have other health problems in addition to coloboma.
Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon. Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and soreness around a joint. Some common forms of tendinitis are named after the sports that increase their risk. They include tennis elbow, golfer's elbow, pitcher's shoulder, swimmer's shoulder, and jumper's knee. Doctors diagnose tendinitis with your medical history, a physical exam, and imaging tests. The first step in treatment is to reduce pain and swelling. Rest, wrapping or elevating the affected area, and medicines can help. Ice is helpful for recent, severe injuries. Other treatments include ultrasound, physical therapy, steroid injections, and surgery.
Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.
Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been identified. This disorder accounts for approximately 4 percent of all SCID cases.
These resources address the diagnosis or management of microcephaly-capillary malformation syndrome: - Gene Review: Gene Review: Microcephaly-Capillary Malformation Syndrome - Genetic Testing Registry: Microcephaly-capillary malformation 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
Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.
Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. It can range in severity from a thinned area in the diaphragm to its complete absence. CDH may allow the stomach and intestines to move into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially causing life-threatening complications. CDH has many different causes and occurs with other malformations in some cases. Treatment options depend on the severity of the defect.
How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections) is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness.
Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.
Rheumatic fever is an inflammatory condition that may develop after infection with group A Streptococcus bacteria, such as strep throat or scarlet fever. It is primarily diagnosed in children between the ages of 6 and 16 and can affect the heart, joints, nervous system and/or skin. Early signs and symptoms include sore throat; swollen red tonsils; fever; headache; and/or muscle and joint aches. Some affected people develop rheumatic heart disease, which can lead to serious inflammation and scarring of the heart valves. It is not clear why some people who are infected with group A Streptococcus bacteria go on to develop rheumatic fever, while others do not; however, it appears that some families may have a genetic susceptibility to develop the condition. Treatment usually includes antibiotics and/or anti-inflammatory medications.
Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the Y chromosome to all their sons. As a result, the sons will also have Y chromosome infertility. This form of inheritance is called Y-linked. Daughters, who do not inherit the Y chromosome, are not affected.
Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain the cerebellum, pons, and inferior olives. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated. http://www.ninds.nih.gov/disorders/msa/msa.htm OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.
Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. WHSC1, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition. Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome.
Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. Most parathyroid cancer signs and symptoms are caused by the hypercalcemia that develops. Signs and symptoms of hypercalcemia include the following: - Weakness. - Feeling very tired. - Nausea and vomiting. - Loss of appetite. - Weight loss for no known reason. - Being much more thirsty than usual. - Urinating much more than usual. - Constipation. - Trouble thinking clearly. Other signs and symptoms of parathyroid cancer include the following: - Pain in the abdomen, side, or back that doesn't go away. - Pain in the bones. - A broken bone. - A lump in the neck. - Change in voice such as hoarseness. - Trouble swallowing. Other conditions may cause the same signs and symptoms as parathyroid cancer. Check with your doctor if you have any of these problems.
Most people do not have any symptoms of hepatitis A. If symptoms of hepatitis A occur, they include - feeling tired - muscle soreness - upset stomach - fever - loss of appetite - stomach pain - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice Symptoms of hepatitis A can occur 2 to 7 weeks after coming into contact with the virus. Children younger than age 6 may have no symptoms. Older children and adults often get mild, flulike symptoms. See a doctor right away if you or a child in your care has symptoms of hepatitis A.
People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested. Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD) may want to meet with a genetics counselor. A genetics counselor can answer questions about the risk and explain the choices that are available.
Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small number of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.