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Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States.
Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute
Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients is reported to be 55 years.
If you think that you may have cysticercosis, please see your health care provider. Your health care provider will ask you about your symptoms, where you have travelled, and what kinds of foods you eat. The diagnosis of neurocysticercosis usually requires MRI or CT brain scans. Blood tests may be useful to help diagnose an infection, but they may not always be positive in light infections. If you have been diagnosed with cysticercosis, you and your family members should be tested for intestinal tapeworm infection. See the taeniasis section for more information on intestinal tapeworm infections. More on: Taeniasis More on: Resources for Health Professionals: Diagnosis
Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown.
How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.
Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. A raised toilet seat can make it easier to get up and down. Grab bars in the tub can keep you steady.
Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to infection, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria). S. maltophilia bacteria are resistant to many types of antibiotics; however, most strains can be treated with trimethoprim-sulfamethoxazole treatment.
These resources address the diagnosis or management of epidermolytic hyperkeratosis: - Genetic Testing Registry: Bullous ichthyosiform erythroderma - The Swedish Information Centre for Rare Diseases: Ichthyosis 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
Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively. In the liver, enzymes break down tyrosine in a five step process, resulting in molecules that are either excreted by the kidneys or used to produce energy or make other substances in the body. The FAH gene provides instructions for the fumarylacetoacetate hydrolase enzyme, which is responsible for the final step of tyrosine breakdown. The enzyme produced from the TAT gene, called tyrosine aminotransferase enzyme, is involved at the first step in the process. The HPD gene provides instructions for making the 4-hydroxyphenylpyruvate dioxygenase enzyme, which is responsible for the second step. Mutations in the FAH, TAT, or HPD gene cause a decrease in the activity of one of the enzymes in the breakdown of tyrosine. As a result, tyrosine and its byproducts accumulate to toxic levels, which can cause damage and death to cells in the liver, kidneys, nervous system, and other organs.
Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the blood vessels to narrow when you are cold or feeling stressed. When this happens, blood can't get to the surface of the skin and the affected areas turn white and blue. When the blood flow returns, the skin turns red and throbs or tingles. In severe cases, loss of blood flow can cause sores or tissue death. Primary Raynaud's happens on its own. The cause is not known. There is also secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are more likely to develop Raynaud's. It is also more common in women, people with a family history, and those over age 30. Treatment for Raynaud's may include drugs to keep the blood vessels open. There are also simple things you can do yourself, such as - Soaking hands in warm water at the first sign of an attack - Keeping your hands and feet warm in cold weather - Avoiding triggers, such as certain medicines and stress NIH: National Heart, Lung, and Blood Institute
How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.
Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults.
Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world.
What are the signs and symptoms of Groenouw type I corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Groenouw type I corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Granular corneal dystrophy - Nodular corneal dystrophy - Punctate corneal dystrophy - Strabismus - 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.
Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person.
Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports. You should examine your testicles monthly and seek medical attention for lumps, redness, pain or other changes. Testicles can get inflamed or infected. They can also develop cancer. Testicular cancer is rare and highly treatable. It usually happens between the ages of 15 and 40.
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 percentage of cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The lesions may fluctuate between periods of worsening and periods of improvement. Currently, the cause is not known.
Signs and symptoms of ovarian, fallopian tube, or peritoneal cancer include pain or swelling in the abdomen. Ovarian, fallopian tube, or peritoneal cancer may not cause early signs or symptoms. When signs or symptoms do appear, the cancer is often advanced. Signs and symptoms may include the following: - Pain, swelling, or a feeling of pressure in the abdomen or pelvis. - Vaginal bleeding that is heavy or irregular, especially after menopause. - Vaginal discharge that is clear, white, or colored with blood. - A lump in the pelvic area. - Gastrointestinal problems, such as gas, bloating, or constipation. These signs and symptoms also may be caused by other conditions and not by ovarian, fallopian tube, or peritoneal cancer. If the signs or symptoms get worse or do not go away on their own, check with your doctor so that any problem can be diagnosed and treated as early as possible.
Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. More than 500 affected families have been identified, and studies suggest that the disorder may be underdiagnosed because mild cases may not be identified. Pyruvate kinase deficiency is found in all ethnic groups. Its prevalence has been estimated at 1 in 20,000 people of European descent. It is more common in the Old Order Amish population of Pennsylvania.
Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer. Geographic Distribution The geographic distributions of Ascaris are worldwide in areas with warm, moist climates and are widely overlapping. Infection occurs worldwide and is most common in tropical and subtropical areas where sanitation and hygiene are poor.
Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Gingival fibromatosis - 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.
Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the condition have been reported to run in families. However, the condition is not caused by a single gene that is passed on to offspring. Multiple genetic and environmental factors likely interact to put someone at an increased risk to develop the condition.
Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms.
Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
These resources address the diagnosis or management of infantile neuroaxonal dystrophy: - Gene Review: Gene Review: PLA2G6-Associated Neurodegeneration - Genetic Testing Registry: Infantile neuroaxonal dystrophy 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
Yes. Many prescription medications, such as those used to lower blood pressure, can make a person feel dizzy. Other medicines might damage the inner ear. These medicines, called ototoxic medicines, can make you feel off balance. Sometimes the damage lasts only as long as you take the drug. Other times it is permanent. Groups of drugs that are more likely to be ototoxic include - antidepressants - anti-seizure drugs (anticonvulsants) - hypertensive (high blood pressure) drugs - sedatives - tranquilizers - anxiolytics (anti-anxiety drugs) - aminoglycosides (a type of antibiotic) - diuretics - vasodilators - certain analgesics (painkillers) - certain chemotherapeutics (anti-cancer drugs). antidepressants anti-seizure drugs (anticonvulsants) hypertensive (high blood pressure) drugs sedatives tranquilizers anxiolytics (anti-anxiety drugs) aminoglycosides (a type of antibiotic) diuretics vasodilators certain analgesics (painkillers) certain chemotherapeutics (anti-cancer drugs).
What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen with exercise or when lying in a supine (face upward) position. Although some may only experience pain on one side initially, most people with LPHS will eventually develop bilateral (on both sides) loin pain. During episodes of pain, affected people may also experience nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria.
The treatment for a kidney stone usually depends on its size and what it is made of, as well as whether it is causing symptoms of pain or obstructing the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, children will often require pain control and encouragement to drink lots of fluids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. IV fluids may be needed if the child becomes dehydrated from vomiting or an inability to drink. A child with a larger stone, or one that blocks urine flow and causes great pain, may need to be hospitalized for more urgent treatment. Hospital treatments may include the following:
Wet AMD occurs when abnormal blood vessels behind the retina start to grow under the macula. With wet AMD, loss of central vision can occur quickly. Wet AMD is considered to be advanced AMD and is more severe than the dry form.
Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients. SAR1B gene mutations impair the release of chylomicrons into the bloodstream. A lack of chylomicrons in the blood prevents dietary fats and fat-soluble vitamins from being used by the body, leading to the nutritional and developmental problems seen in people with chylomicron retention disease.
These resources address the diagnosis or management of protein S deficiency: - Genetic Testing Registry: Protein S deficiency - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protein S - MedlinePlus Encyclopedia: Purpura 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 : Your tonsils and adenoids are part of your lymphatic system. Your tonsils are in the back of your throat. Your adenoids are higher up, behind your nose. Both help protect you from infection by trapping germs coming in through your mouth and nose. Sometimes your tonsils and adenoids become infected. Tonsillitis makes your tonsils sore and swollen and causes a sore throat. Enlarged adenoids can be sore, make it hard to breathe and cause ear problems. The first treatment for infected tonsils and adenoids is antibiotics. If you have frequent infections or trouble breathing, you may need surgery. Surgery to remove the tonsils is tonsillectomy. Surgery to remove adenoids is adenoidectomy.
Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. This gene provides instructions for making a protein called an androgen receptor. This receptor attaches (binds) to a class of hormones called androgens, which are involved in male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat. Normally, this DNA segment is repeated up to about 36 times. In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells in the brain and spinal cord. Researchers believe that a fragment of the androgen receptor protein containing the CAG segment accumulates within these cells and interferes with normal cell functions. The nerve cells gradually die, leading to the muscle weakness and wasting seen in this condition. People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age.
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.
Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom is usually a rash, which may look like a bull's eye. As the infection spreads, you may have - A fever - A headache - Muscle and joint aches - A stiff neck - Fatigue Lyme disease can be hard to diagnose because you may not have noticed a tick bite. Also, many of its symptoms are like those of the flu and other diseases. In the early stages, your health care provider will look at your symptoms and medical history, to figure out whether you have Lyme disease. Lab tests may help at this stage, but may not always give a clear answer. In the later stages of the disease, a different lab test can confirm whether you have it. Antibiotics can cure most cases of Lyme disease. The sooner treatment begins, the quicker and more complete the recovery. After treatment, some patients may still have muscle or joint aches and nervous system symptoms. This is called post-Lyme disease syndrome (PLDS). Long-term antibiotics have not been shown to help with PLDS. However, there are ways to help with the symptoms of PLDS, and most patients do get better with time. NIH: National Institute of Allergy and Infectious Diseases
Summary : Vasectomy is a type of surgery that prevents a man from being able to get a woman pregnant. It is a permanent form of birth control. Vasectomy works by blocking the tube through which sperm pass. The surgery usually takes no more than 30 minutes. Almost all men go home the same day. In most cases, recovery takes less than a week. Vasectomy can sometimes be reversed, but not always. Having a vasectomy does not protect against sexually transmitted diseases, such as HIV/AIDS. Men who have had vasectomy should still practice safe sex to avoid STDs. NIH: National Institute of Child Health and Human Development
Overactive bladder is a condition in which the bladder squeezes urine out at the wrong time. You may have overactive bladder if you have two or more of these symptoms: - You urinate eight or more times a day or two or more times at night - You have the sudden, strong need to urinate immediately - You leak urine after a sudden, strong urge to urinate You also may have incontinence, a loss of bladder control. Nerve problems, too much fluid, or too much caffeine can cause it. Often the cause is unknown. Your doctor may prescribe a medicine that can calm muscles and nerves. The medicine may come as a pill, a liquid, or a patch. The medicines can cause your eyes to become dry. They can also cause dry mouth and constipation. To deal with these effects, use eye drops to keep your eyes moist, chew sugarless gum or suck on sugarless hard candy if dry mouth bothers you, and take small sips of water throughout the day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also at risk for the condition.
You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it. Complications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves. People at high risk for IE may be given antibiotics before some types of surgery and dental work. Antibiotics can help prevent IE. Your doctor will tell you whether you need this type of treatment. People at high risk for IE may include those who've had valve repair or replacement or who have some types of underlying heart disease.
How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that 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 so not show signs and symptoms of the condition.
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.
The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste - prevent the effects of aging on smell and taste - develop new diagnostic tests for taste and smell disorders - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.
Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include - Visual disturbances - Muscle weakness - Trouble with coordination and balance - Sensations such as numbness, prickling, or "pins and needles" - Thinking and memory problems No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk. There is no single test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help. NIH: National Institute of Neurological Disorders and Stroke
Proctitis that is not treated or does not respond to treatment may lead to complications, including - severe bleeding and anemiaa condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells - abscessespainful, swollen, pus-filled areas caused by infection - ulcers on the intestinal lining - fistulasabnormal connections between two parts inside the body
Relieving pain is one of the main goals of treating coronary microvascular disease (MVD). Treatments also are used to control risk factors and other symptoms. Treatments may include medicines, such as: ACE inhibitors and beta blockers to lower blood pressure and decrease the hearts workload Aspirin to help prevent blood clots or control inflammation Nitroglycerin to relax blood vessels, improve blood flow to the heart muscle, and treat chest pain Statin medicines to control or lower your blood cholesterol. Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. If youre diagnosed with coronary MVD and also haveanemia, you may benefit from treatment for that condition. Anemia is thought to slow the growth of cells needed to repair damaged blood vessels. If youre diagnosed with and treated for coronary MVD, you should get ongoing care from your doctor. Research is under way to find the best treatments for coronary MVD.
Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce the risk for aspiration. Occasionally drug therapy that helps the neurological disorder can also help dysphagia. In a few persons, botulinum toxin injections can help when food or liquid cannot enter the esophagus to get to the stomach. More severely disabled individuals may require surgery or the insertion of feeding tubes.
Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia. Symptoms of mild cerebral hypoxia include inattentiveness, poor judgment, memory loss, and a decrease in motor coordination. Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death. In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration.
Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. While aortic aneurysms are common worldwide, it is difficult to determine their exact prevalence because they usually cause no symptoms unless they rupture. Ruptured aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in the United States each year.
Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, myalgias (muscle tenderness), wasting of the pelvic girdle and shoulder muscles, fatigue, and/or heat intolerance. Thyroid myopathy may be associated with rhabdomyolysis (acute muscle breakdown), damage to the muscles that control eye movement, and temporary, but severe, attacks of muscle weakness that are associated with low blood potassium levels (known as periodic paralysis).
This condition is inherited in an X-linked recessive pattern. The PGK1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Females with one altered PGK1 gene, however, may have some features of phosphoglycerate kinase deficiency, such as anemia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
If you continue to live or travel in yellow fever-endemic areas, you should receive a booster dose of yellow fever vaccine after 10 years. After receiving the vaccine, you should receive an International Certificate of Vaccination (yellow card) that has been validated by the vaccination center. This Certificate becomes valid 10 days after vaccination and lasts for 10 years. You will need this card as proof of vaccination to enter certain countries.
These resources address the diagnosis or management of SOST-related sclerosing bone dysplasia: - Gene Review: Gene Review: SOST-Related Sclerosing Bone Dysplasias - Genetic Testing Registry: Hyperphosphatasemia tarda - Genetic Testing Registry: Sclerosteosis - MedlinePlus Encyclopedia: Facial Paralysis - MedlinePlus Encyclopedia: Smell--Impaired 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 kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. The test identifies the presence of a common change (mutation) called 20210G>A. An individual can be a heterozygote (having one mutated copy of the F2 gene) or a homozygote (having two mutated copies). Most heterozygotes have a mildly elevated plasma concentration of prothrombin (which can be measured in a blood test) that is approximately 30% higher than normal. However, these values can vary greatly, and the range of prothrombin concentrations in heterozygotes overlaps significantly with the normal range. Therefore, plasma concentration of prothrombin is not reliable for diagnosis of this condition. Individuals interested in learning more about testing for prothrombin thrombophilia should speak with a genetics professional or other healthcare provider.
What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. 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) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - 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 has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family.
Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.
Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. SGCE gene mutations that cause myoclonus-dystonia result in a shortage of -sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain.
These resources address the diagnosis or management of Sandhoff disease: - Genetic Testing Registry: Sandhoff disease 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
One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women whose cancer is diagnosed at a late stage, after it has spread to other parts of the body, have only a 23.3 percent chance of surviving 5 years. To learn more about what happens after treatment, see Surviving Cancer.
These resources address the diagnosis or management of hypokalemic periodic paralysis: - Gene Review: Gene Review: Hypokalemic Periodic Paralysis - Genetic Testing Registry: Hypokalemic periodic paralysis - MedlinePlus Encyclopedia: Hypokalemic periodic paralysis 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 hyperparathyroidism-jaw tumor syndrome: - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 2 - MedlinePlus Encyclopedia: Hyperparathyroidism 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
Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Some affected individuals inherit a chromosome 11 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with WAGR syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 11, which results in an increased risk of Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing abdominal adhesions. A person with a partial intestinal obstruction may relieve symptoms with a liquid or low- fiber diet, which is more easily broken down into smaller particles by the digestive system.
Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel.
These resources address the diagnosis or management of celiac disease: - Beth Israel Deaconess: Celiac Center - Columbia University Celiac Disease Center - Gene Review: Gene Review: Celiac Disease - Genetic Testing Registry: Celiac disease - Massachusetts General Hospital Center for Celiac Research and Treatment - MedlinePlus Encyclopedia: Celiac Disease Nutritional Considerations - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide - University of Chicago Celiac Disease 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
Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.
Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s.
What are the signs and symptoms of Tetramelic monodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetramelic monodactyly. 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) Split hand 90% Autosomal dominant inheritance - Monodactyly (feet) - Monodactyly (hands) - Split foot - 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.
Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people.
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
These resources address the diagnosis or management of CHOPS syndrome: - Genetic Testing Registry: Chops syndrome - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery 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
Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that transmit pain, temperature, and touch sensations (sensory neurons). When the NGF protein binds to the NTRK1 receptor, signals are transmitted inside the cell that tell the cell to grow and divide, and that help it survive. Mutations in the NTRK1 gene lead to a protein that cannot transmit signals. Without the proper signaling, neurons die by a process of self-destruction called apoptosis. Loss of sensory neurons leads to the inability to feel pain in people with CIPA. In addition, people with CIPA lose the nerves leading to their sweat glands, which causes the anhidrosis seen in affected individuals.
How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC.
Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). This eventually causes red blood cells to be prematurely destroyed (hemolysis) leading to anemia and other associated signs and symptoms. Cold agglutinin disease can be primary (unknown cause) or secondary, due to an underlying condition such as an infection, another autoimmune disease, or certain cancers. Treatment depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause.
Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. Offer to share your health history when it is done. Encourage relatives to create their own health histories. It's important to find the right time to talk about family health. Family get-togethers like holidays, vacations, and reunions might be good opportunities. Some people may prefer to share health information privately, in person or by telephone. You can also contact family members by mail or e-mail. Be sure to take notes or record the conversations with a tape recorder or video camera to help you remember.
Craniometaphyseal dysplasia is a very rare disorder; its incidence is unknown.
Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.
These resources address the diagnosis or management of Beckwith-Wiedemann syndrome: - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome - Genetic Testing Registry: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome - MedlinePlus Encyclopedia: Macroglossia - MedlinePlus Encyclopedia: Omphalocele 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 possible signs of lung cancer are: - a cough that doesn't go away and gets worse over time - constant chest pain - coughing up blood - shortness of breath, wheezing, or hoarseness - repeated problems with pneumonia or bronchitis - swelling of the neck and face - loss of appetite or weight loss - fatigue. a cough that doesn't go away and gets worse over time constant chest pain coughing up blood shortness of breath, wheezing, or hoarseness repeated problems with pneumonia or bronchitis swelling of the neck and face loss of appetite or weight loss fatigue.
What are the signs and symptoms of Slipped capital femoral epiphysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Slipped capital femoral epiphysis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hip osteoarthritis - Proximal femoral epiphysiolysis - 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.
What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. It may also be associated with a history of splenectomy. In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use. While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock.
Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects. More on: Resources for Health Professionals: Treatment
Spastic paraplegia type 15 is a rare condition, although its exact prevalence is unknown.
A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. The inheritance pattern of this predisposition is unknown.
Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. These increased levels of histidine do not appear to have any negative effects on the body.
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause.
There is no specific treatment for Barth syndrome. Bacterial infections caused by neutropenia can be effectively treated with antibiotics. The drug granulocyte colony stimulating factor, or GCSF, can stimulate white cell production by the bone marrow and help combat infection. Medicines may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but in others it has caused increasing muscle weakness and even precipitated heart failure. Only careful dietary monitoring directed by a physician or nutritionist familiar with the disorder can ensure proper caloric and nutritional intake.
How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions. Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK. Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit. More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free.
Talking about alcohol use with a professional is beneficial to many people. Counseling either one-on-one or in groups can help develop skills to stop or reduce drinking, develop reachable goals, manage the triggers that lead to alcohol misuse and build a strong social support system that supports healthy habits. There are many kinds of counseling approaches. - cognitive behavior therapy - motivational enhancement therapy - marital and family counseling - brief interventions cognitive behavior therapy motivational enhancement therapy marital and family counseling brief interventions Learn more about each type of behavioral therapy. Counseling can be provided by - primary care doctors - psychiatrists - psychologists - social workers - certified alcohol counselors. primary care doctors psychiatrists psychologists social workers certified alcohol counselors.
The NINDS supports research about MSA through grants to major medical institutions across the country. Researchers hope to learn why alpha-synuclein buildup occurs in MSA and Parkinsons disease, and how to prevent it. Drugs that reduce the abnormal alpha-synuclein buildup may be promising treatments for MSA
These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 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
Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes. The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.
If you have diabetes or pre-diabetes you have an increased risk for heart disease. Diabetic heart disease can be coronary heart disease (CHD), heart failure, and diabetic cardiomyopathy. Diabetes by itself puts you at risk for heart disease. Other risk factors include - Family history of heart disease - Carrying extra weight around the waist - Abnormal cholesterol levels - High blood pressure - Smoking Some people who have diabetic heart disease have no signs or symptoms of heart disease. Others have some or all of the symptoms of heart disease. Treatments include medications to treat heart damage or to lower your blood glucose (blood sugar), blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. You also may need surgery or some other medical procedure. Lifestyle changes also help. These include a healthy diet, maintaining a healthy weight, being physically active, and quitting smoking. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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.