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Nerves that work poorly can lead to three different kinds of bladder control problems. Overactive bladder. Damaged nerves may send signals to the bladder at the wrong time, causing its muscles to squeeze without warning. The symptoms of overactive bladder include - urinary frequencydefined as urination eight or more times a day or two or more times at night - urinary urgencythe sudden, strong need to urinate immediately - urge incontinenceleakage of urine that follows a sudden, strong urge to urinate Poor control of sphincter muscles. Sphincter muscles surround the urethra and keep it closed to hold urine in the bladder. If the nerves to the sphincter muscles are damaged, the muscles may become loose and allow leakage or stay tight when you are trying to release urine. Urine retention. For some people, nerve damage means their bladder muscles do not get the message that it is time to release urine or are too weak to completely empty the bladder. If the bladder becomes too full, urine may back up and the increasing pressure may damage the kidneys. Or urine that stays too long may lead to an infection in the kidneys or bladder. Urine retention may also lead to overflow incontinence.
The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.
These resources address the diagnosis or management of Angelman syndrome: - Gene Review: Gene Review: Angelman Syndrome - Genetic Testing Registry: Angelman syndrome - MedlinePlus Encyclopedia: Speech Disorders 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 adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.
Signs of bladder problems include - Urgency. The feeling that you need to go right now! Urgency is normal if you haven't been near a bathroom for a few hours or if you have been drinking a lot of fluids. But you may have a problem if you have strong urges before your bladder has had time to fill. All of a sudden, you feel a strong urge to go. At times, you may even have an accident because the urge strikes so quickly you don't have time to find a bathroom. - Frequency. The feeling that you need to go much more often than anyone else. Doctors and nurses use the term void, which means to empty the bladder. Most people void between four and seven times a day. Drinking large amounts of fluid can cause more frequent voiding. Taking blood pressure medicines called diuretics, or water pills, can also cause more frequent voiding. If you void more than eight times a day, and you dont take diuretics or drink large amounts of fluid, it may be the sign of a problem. - Pain. The feeling of more than discomfort when you need to go. Having a full bladder may be uncomfortable, but it should not be painful. You may have a problem if you feel burning or sharp pain in your bladder or urethrathe opening where urine leaves the body. Some people may have pain without urgency or frequency. Others have urgency and frequency without pain.
There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. Bracing may also be used to improve mobility.
These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus 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
A blood test will show if you have hepatitis C. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis C. If you are at higher risk of getting hepatitis C, get tested. Many people with hepatitis C do not know they are infected. Your doctor may suggest getting a liver biopsy if chronic hepatitis C is suspected. A liver biopsy is a test to take a small piece of your liver to look for liver damage. The doctor may ask you to stop taking certain medicines before the test. You may be asked to fast for 8 hours before the test. During the test, you lie on a table with your right hand resting above your head. Medicine is applied to numb the area where the biopsy needle will be inserted. If needed, sedatives and pain medicine are also given. The doctor uses a needle to take a small piece of liver tissue. After the test, you must lie on your right side for up to 2 hours. You will stay 2 to 4 hours after the test before being sent home. A liver biopsy is performed at a hospital or outpatient center by a doctor. The liver sample is sent to a special lab where a doctor looks at the tissue with a microscope and sends a report to your doctor.
Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver, and bone marrow. People with this form usually have fever, weight loss, and an enlarged spleen and liver. Leishmaniasis is found in parts of about 88 countries. Most of these countries are in the tropics and subtropics. It is possible but very unlikely that you would get this disease in the United States. But you should be aware of it if you are traveling to the Middle East or parts of Central America, South America, Asia, Africa or southern Europe. Treatment is with medicines that contain antimony, a type of metal, or with strong antibiotics. The best way to prevent the disease is to protect yourself from sand fly bites: - Stay indoors from dusk to dawn, when sand flies are the most active - Wear long pants and long-sleeved shirts when outside - Use insect repellent and bed nets as needed Centers for Disease Control and Prevention
Cushing disease is estimated to occur in 10 to 15 per million people worldwide. For reasons that are unclear, Cushing disease affects females more often than males.
How is Danon disease inherited? Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance.
Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis). Some people with Czech dysplasia have progressive hearing loss.
Through studies in the laboratory and with patients, the National Eye Institute is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. NEI also is supporting studies to learn more about who is likely to get glaucoma, when to treat people who have increased eye pressure, and which treatment to use first.
Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen affected individuals have been identified.
These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione synthetase deficiency 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 best way to prevent ascariasis is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter ("night soil") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. - Teach children the importance of washing hands to prevent infection. - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. More on: Handwashing Transmission of infection to others can be prevented by - Not defecating outdoors. - Effective sewage disposal systems. More on: Handwashing
These resources address the diagnosis or management of epidermolysis bullosa simplex: - Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America: Wound Care - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa Simplex - Genetic Testing Registry: Epidermolysis bullosa simplex - Genetic Testing Registry: Epidermolysis bullosa simplex with mottled pigmentation - Genetic Testing Registry: Epidermolysis bullosa simplex, Cockayne-Touraine type - Genetic Testing Registry: Epidermolysis bullosa simplex, Koebner type - Genetic Testing Registry: Epidermolysis bullosa simplex, Ogna type - Genetic Testing Registry: Epidermolysis bullosa simplex, autosomal recessive - MedlinePlus Encyclopedia: Epidermolysis Bullosa 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
Is septo-optic dysplasia inherited?
Individuals of all ages who come into contact with urine, feces, saliva, or blood of wild mice are potentially at risk for infection. Owners of pet mice or hamsters may be at risk for infection if these animals originate from colonies that were contaminated with LCMV, or if their animals are infected from other wild mice. Human fetuses are at risk of acquiring infection vertically from an infected mother. Laboratory workers who work with the virus or handle infected animals are also at risk. However, this risk can be minimized by utilizing animals from sources that regularly test for the virus, wearing proper protective laboratory gear, and following appropriate safety precautions.
Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis.
How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.
The prognosis for individuals with encephaloceles varies depending on the type of brain tissue involved, the location of the sacs, and the accompanying brain malformations.
Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders. The cause of this condition is unknown. In some cases, Tietze syndrome may resolve on its own without treatment. Management for others may include minimizing physical activity; applying local heat; and taking pain medications and/or nonsteroidal anti-inflammatory drugs. Of note, this syndrome is different from Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair.
Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Problems with blood circulation. These may be the result of atherosclerosis or diabetes. Severe cases may result in amputation. - Injuries, including from traffic accidents and military combat - Cancer - Birth defects Some amputees have phantom pain, which is the feeling of pain in the missing limb. Other physical problems include surgical complications and skin problems, if you wear an artificial limb. Many amputees use an artificial limb. Learning how to use it takes time. Physical therapy can help you adapt. Recovery from the loss of a limb can be hard. Sadness, anger, and frustration are common. If you are having a tough time, talk to your doctor. Treatment with medicine or counseling can help.
Actual Cause Is Unknown Scientists believe that rheumatoid arthritis may result from the interaction of many factors such as genetics, hormones, and the environment. Although rheumatoid arthritis sometimes runs in families, the actual cause of rheumatoid arthritis is still unknown. Research suggests that a person's genetic makeup is an important part of the picture, but not the whole story. Some evidence shows that infectious agents, such as viruses and bacteria, may trigger rheumatoid arthritis in people with an inherited tendency to develop the disease. However, a specific agent or agents are not yet known. Not Contagious It is important to note that rheumatoid arthritis is not contagious. A person cannot catch it from someone else. Learn more about the causes of rheumatoid arthritis.
These resources address the diagnosis or management of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: - Genetic Testing Registry: Deficiency of steroid 11-beta-monooxygenase - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia 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
Intestinal adaptation is a process that usually occurs in children after removal of a large portion of their small intestine. The remaining small intestine goes through a period of adaptation and grows to increase its ability to absorb nutrients. Intestinal adaptation can take up to 2 years to occur, and during this time a person may be heavily dependent on parenteral or enteral nutrition.1
The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. It provides the sharp, central vision needed for reading, driving, and seeing fine detail. A retinal detachment lifts or pulls the retina from its normal position. It can occur at any age, but it is more common in people over age 40. It affects men more than women and whites more than African Americans. A retinal detachment is also more likely to occur in people who - Are extremely nearsighted - Have had a retinal detachment in the other eye - Have a family history of retinal detachment - Have had cataract surgery - Have other eye diseases or disorders - Have had an eye injury Symptoms include an increase in the number of floaters, which are little "cobwebs" or specks that float about in your field of vision, and/or light flashes in the eye. It may also seem like there is a "curtain" over your field of vision. A retinal detachment is a medical emergency. If not promptly treated, it can cause permanent vision loss. If you have any symptoms, see an eye care professional immediately. Treatment includes different types of surgery. NIH: National Eye Institute
Older adults are more likely to have chronic health conditions such as diabetes and heart disease. Managing these conditions can complicate treatment and affect the time it takes to recover. Also, older people's bodies metabolize, or break down, drugs at a slower rate than younger people, and this can have an effect on the way medicines are tolerated. For instance, some older adults may not be able to tolerate high doses of chemotherapy (cancer-fighting drugs) and radiation that are used to treat cancer.
How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.
Autism spectrum disorders including Asperger syndrome have a tendency to run in families, but the inheritance pattern is unknown.
Health care providers may be able to diagnose kidney dysplasia during a womans pregnancy using a fetal ultrasound, also called a fetal sonogram. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. Fetal ultrasound is a test done during pregnancy to create images of the fetus in the womb. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and an obstetrician or a radiologist interprets the images. An obstetrician is a doctor who specializes in pregnancy and childbirth. A radiologist is a doctor who specializes in medical imaging. The patientin this case, the fetus motherdoes not need anesthesia for this procedure. The images can show defects in the fetus kidneys and other parts of the urinary tract. Health care providers do not always diagnose kidney dysplasia before a baby is born. After birth, health care providers often diagnose kidney dysplasia during an evaluation of the child for a UTI or another medical condition. A health care provider uses ultrasound to diagnose kidney dysplasia after the baby is born.
How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnosis and prompt treatment are essential for an improved prognosis. Some individuals require a liver transplant if their liver disease is already advanced before treatment begins. Detailed information on the treatment of tyrosinemia type 1 is available from GeneReviews.
Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly. Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites). Talk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.
These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe infantile type 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 NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders.
Signs and symptoms of gallbladder cancer include jaundice, fever, and pain. These and other signs and symptoms may be caused by gallbladder cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin and whites of the eyes). - Pain above the stomach. - Fever. - Nausea and vomiting. - Bloating. - Lumps in the abdomen.
A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. A healthcare provider usually confirms a diagnosis of shingles if the person also - reports a sharp, burning pain - has had chickenpox - has blisters that look like chickenpox - is elderly. reports a sharp, burning pain has had chickenpox has blisters that look like chickenpox is elderly. Other symptoms of shingles can include - fever - headache - chills - upset stomach. fever headache chills upset stomach. Some people go to their healthcare provider because of burning, painful, itchy sensations on one area of skin, but they don't get a rash. If there is no rash, the symptoms can be difficult to diagnose because they can be mistaken for numerous other diseases. In cases where there is no rash or the diagnosis is questionable, healthcare providers can do a blood test. If there is a rash, but it does not resemble the usual shingles outbreak, a healthcare provider can examine skin scrapings from the sores.
Is Laron syndrome inherited? Most cases of Laron syndrome are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Reports exist of rare families in which Laron syndrome appears to be inherited in an autosomal dominant manner. In these cases, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. An affected person has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Key Points - Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. - Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options. Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow. Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer that occurs more often in children younger than 2 years. Children who have neurofibromatosis type 1 and males have an increased risk of juvenile myelomonocytic leukemia. In JMML, the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.
Creatinine is a waste product in your blood. It comes from protein in your diet and the normal breakdown of muscles of your body. Creatinine is removed from blood by the kidneys and then passes out of the body in your urine. If you have kidney disease, the level of creatinine in your blood increases. Blood (serum) and urine tests can check your creatinine levels. The tests are done to check how well your kidneys are working. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or CSF2RA gene, and it is typically inherited in an autosomal recessive pattern.
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present.
Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.
How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lungs. A breathing machine is used to deliver high doses of oxygen and continued pressure called PEEP (positive end-expiratory pressure) to the damaged lungs. Patients often need to be deeply sedated with medications when using this equipment. Some research suggests that giving medications to temporarily paralyze a person with ARDS will increase the chance of recovery. Treatment continues until the patient is well enough to breathe on his/her own. More detailed information about the treatment of ARDS can be accessed through the National Heart, Lung and Blood Institute (NHLBI) and Medscape Reference. An article detailing Oxygen Therapy is also available.
Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.
There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis.
Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example: Avoid heavy drinking. Alcohol slows the production of platelets. Try to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets. Avoid medicines that you know have decreased your platelet count in the past. Be aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much. Talk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines.
How might the the itching associated with cardiofaciocutaneous syndrome be treated? Xerosis (dry skin) and pruritus (itching) associated with cardiofaciocutaneous syndrome may be relieved by increasing the amount of moisture in the air or by using hydrating lotions. If signs of infection develop, treatment with antibiotics may be necessary.
The prevalence of desmosterolosis is unknown; at least 10 affected individuals have been described in the scientific literature.
Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.
Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs are blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause chronic unilateral obstructive uropathy or chronic bilateral obstructive uropathy. Risk factors for retroperitoneal fibrosis include asbestos exposure, smoking, tumor, infection, trauma, radiotherapy, surgery, and use of certain drugs.
Most people with microscopic hematuria do not have symptoms. People with gross hematuria have urine that is pink, red, or cola-colored due to the presence of red blood cells (RBCs). Even a small amount of blood in the urine can cause urine to change color. In most cases, people with gross hematuria do not have other symptoms. However, people with gross hematuria that includes blood clots in the urine may have pain.
Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include deafness, loss of the sense of smell (anosmia), problems with balance and coordination (ataxia), dry and scaly skin (ichthyosis), and heartbeat abnormalities (cardiac arrhythmias). Some individuals will have shortened bones in their fingers or toes, or a visibly shortened fourth toe. Although the disease usually appears in early childhood, some people will not develop symptoms until their 40s or 50s.
These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testing Registry: Hereditary hearing loss and deafness - Genetic Testing Registry: Non-syndromic genetic deafness - MedlinePlus Encyclopedia: Age-related hearing loss - MedlinePlus Encyclopedia: Audiology - MedlinePlus Encyclopedia: Hearing loss - MedlinePlus Encyclopedia: Hearing or speech impairment - resources 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 prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness.
Even if the doctor removes all the cancer that can be seen at the time of the operation, many patients receive chemotherapy after surgery to kill any cancer cells that are left. Chemotherapy treatment after surgery -- to increase the chances of a cure -- is called adjuvant therapy. Researchers have found that patients who received adjuvant therapy usually survived longer and went for longer periods of time without a recurrence of colon cancer than patients treated with surgery alone. Patients age 70 and older benefited from adjuvant treatment as much as their younger counterparts. In fact, adjuvant therapy is equally as effective -- and no more toxic -- for patients 70 and older as it is for younger patients, provided the older patients have no other serious diseases. Adjuvant chemotherapy is standard treatment for patients whose cancer is operable and who are at high risk for a recurrence of the disease. Most cases of colon cancer occur in individuals age 65 and over. But studies have shown that older patients receive adjuvant chemotherapy less frequently than younger patients.
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.
How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. A female with XLH has a 50% chance of passing along a mutation to each of her children. Since males only have one X-chromosome, a male with XLH will pass along the condition to all of his daughters, but not to his sons. PHEX mutations are inherited through families, but they can also occur spontaneously, explaining why some people with XLH may not have a previous family history.
Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells. The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the cell membrane. The movement of these substances across the membrane is enhanced by another protein called apolipoprotein A-I (apoA-I), which is produced by the APOA1 gene. Once outside the cell, the cholesterol and phospholipids combine with apoA-I to form HDL. ApoA-I also triggers a reaction that converts cholesterol to a form that can be fully integrated into HDL and transported through the bloodstream. ABCA1 gene mutations and some APOA1 gene mutations prevent the release of cholesterol and phospholipids from cells. Other mutations in the APOA1 gene reduce the protein's ability to stimulate the conversion of cholesterol. These ABCA1 and APOA1 gene mutations decrease the amount of cholesterol or phospholipids available to form HDL, resulting in low levels of HDL in the blood. A shortage (deficiency) of HDL is believed to increase the risk of cardiovascular disease.
How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource.
How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptoms of the condition. During episodes of joint pain, stiffness, and/or swelling, the following treatments may be recommended to relieve symptoms: joint aspiration (draining of fluid from the affected joint), corticosteroids injections, and/or nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or ibuprofen. Small doses of a medication called colchicine or NSAIDS are sometimes prescribed to people with frequent and severe attacks in an attempt to prevent future episodes; however, this therapy is not effective in all cases.
These resources address the diagnosis or management of Baller-Gerold syndrome: - Gene Review: Gene Review: Baller-Gerold Syndrome - Genetic Testing Registry: Baller-Gerold syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) 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
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 Familial atrial fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial atrial fibrillation. 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) Thromboembolic stroke 75% Autosomal dominant 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.
Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to BD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure neurological disorders, such as BD.
How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone. As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS.
There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-3 months but does not relieve symptoms. Other medicines that may help reduce symptoms include muscle relaxants such as baclofen, tizanidine, and the benzodiazepines for spasticity; glycopyrrolate and atropine to treat excessive saliva; and anticonvulsants and nonsteroidal anti-inflammatory drugs to relieve pain. Panic attacks can be treated with benzodiazepines. Some patients may require stronger medicines such as morphine to cope with musculoskeletal abnormalities or pain in later stages of the disorders, and opiates are used to provide comfort care in terminal stages of the disease. Physical and speech therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, slow muscle weakness and atrophy, and cope with swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing autoimmune hepatitis.
How is TARP syndrome inherited? TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. If a female has one mutated copy of RBM10 and one normal copy, she would typically be an unaffected carrier of this condition. Occasionally, female carriers of an X-linked recessive condition may have varying degrees of signs or symptoms of the condition; this is due to differences in X chromosome inactivation. When a female carrier of an X-linked condition has children, each daughter has a 50% (1 in 2) risk to also be a carrier, and a 50% risk to not be a carrier (and have 2 normal copies of the gene). Each son has a 50% risk to be affected and a 50% risk to be unaffected.
These resources address the diagnosis or management of C3 glomerulopathy: - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: C3 Glomerulonephritis - Genetic Testing Registry: CFHR5 deficiency - Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: Factor H deficiency - Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.
People who smoke should stop. Quitting smoking at any age promotes bladder health and overall health. Smoking increases a persons chance of developing stress incontinence, as it increases coughing. Some people say smoking worsens their bladder irritation. Smoking causes most cases of bladder cancer. People who smoke for many years have a higher risk of bladder cancer than nonsmokers or those who smoke for a short time.2 People who smoke should ask for help so they do not have to try quitting alone. Call 1-800-QUITNOW (1-800-784-8669) for more information.
These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test 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
Head and neck cancer includes cancers of the mouth, nose, sinuses, salivary glands, throat, and lymph nodes in the neck. Most begin in the moist tissues that line the mouth, nose and throat. Symptoms include - A lump or sore that does not heal - A sore throat that does not go away - Trouble swallowing - A change or hoarseness in the voice Using tobacco or alcohol increases your risk. In fact, 85 percent of head and neck cancers are linked to tobacco use, including smoking and smokeless tobacco. If found early, these cancers are often curable. Treatments may include surgery, radiation therapy, chemotherapy or a combination. Treatments can affect eating, speaking or even breathing, so patients may need rehabilitation. NIH: National Cancer Institute
Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to prosopagnosia in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as prosopagnosia.
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.
Treatment for diverticular disease depends on how serious the problem is and whether you are suffering from diverticulosis or diverticulitis. Most people get better by changing their diet. If you have rectal bleeding, you need to go to the hospital so a doctor can find the part of your colon that is bleeding. The doctor may use a special drug that makes the bleeding stop. The doctor may also decide to operate and remove the part of the colon that is bleeding.
Symptoms Many people don't know they have Paget's disease because they have a mild case of the disease and do not have any symptoms. However, people with more advanced cases of the disease will likely have symptoms. Symptoms vary depending on which bone or bones are affected. People with Paget's disease may experience - bone pain - misshapen bones - fractures - osteoarthritis of the joints adjacent to bone affected by the disease. bone pain misshapen bones fractures osteoarthritis of the joints adjacent to bone affected by the disease. Paget's disease can also cause a variety of neurological complications as a result of compression of nerve tissue by bone affected by the disease. Misshapen bone is most obvious when the leg bones, skull, or bones of the spine are affected. Leg bones may become bowed, the skull may become enlarged, and malformed spinal bones may cause curvature of the spine. Complications People with Paget's disease also are more likely to break bones because bones affected by the disease are more fragile. Enlarged and malformed bones can distort the position of bones and joints. This causes wear and tear on the joints next to bones affected by Paget's disease, resulting in arthritis. On very rare occasions, Paget's disease is linked to the development of osteosarcoma, a type of bone cancer. Less than one percent of patients have this complication.
What are the signs and symptoms of Maturity-onset diabetes of the young, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 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 - Maturity-onset diabetes of the young - 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 prevalence of familial isolated hyperparathyroidism is unknown.
FAHN is a rare disorder; only a few dozen cases have been reported.
Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections.
These resources address the diagnosis or management of myoclonus-dystonia: - Gene Review: Gene Review: Myoclonus-Dystonia - Genetic Testing Registry: Myoclonic dystonia 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
Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.
Silver syndrome 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 these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not. Rarely, Silver syndrome is caused by new mutations in the gene and occurs in people with no history of the disorder in their family.
What are the signs and symptoms of Hypertrichosis congenital generalized X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis congenital generalized 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) Scoliosis 5% Congenital, generalized hypertrichosis - Hirsutism - X-linked dominant 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.
These resources address the diagnosis or management of Milroy disease: - Gene Review: Gene Review: Milroy Disease - Genetic Testing Registry: Hereditary lymphedema type I - MedlinePlus Encyclopedia: Lymphatic Obstruction 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 ataxia with oculomotor apraxia: - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 1 - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 2 - Genetic Testing Registry: Adult onset ataxia with oculomotor apraxia - Genetic Testing Registry: Ataxia-oculomotor apraxia 3 - Genetic Testing Registry: Ataxia-oculomotor apraxia 4 - Genetic Testing Registry: Spinocerebellar ataxia autosomal recessive 1 - MedlinePlus Encyclopedia: Apraxia 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
After an incubation period of 5-10 days, symptom onset is sudden and marked by fever, chills, headache, and myalgia. Around the fifth day after the onset of symptoms, a maculopapular rash, most prominent on the trunk (chest, back, stomach), may occur. Nausea, vomiting, chest pain, a sore throat, abdominal pain, and diarrhea may then appear. Symptoms become increasingly severe and can include jaundice, inflammation of the pancreas, severe weight loss, delirium, shock, liver failure, massive hemorrhaging, and multi-organ dysfunction. Because many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other infectious diseases such as malaria or typhoid fever, clinical diagnosis of the disease can be difficult, especially if only a single case is involved. The case-fatality rate for Marburg hemorrhagic fever is between 23-90%. For a complete listing of the case fatality rates for previous outbreaks, please see the History of Outbreaks table
A cystocele occurs when the muscles and supportive tissues between a womans bladder and vagina weaken and stretch, letting the bladder sag from its normal position and bulge into the vagina or through the vaginal opening. In a cystocele, the bladder tissue remains covered by the vaginal skin. A cystocele may result from damage to the muscles and tissues that hold the pelvic organs up inside the pelvis. A womans pelvic organs include the vagina, cervix, uterus, bladder, urethra, and small intestine. Damage to or weakening of the pelvic muscles and supportive tissues may occur after vaginal childbirth and with conditions that repeatedly strain or increase pressure in the pelvic area, such as - repetitive straining for bowel movements - constipation - chronic or violent coughing - heavy lifting - being overweight or obese A womans chances of developing a cystocele increase with age, possibly because of weakening muscles and supportive tissues from aging. Whether menopause increases a womans chances of developing a cystocele is unclear.
NINDS supports research on Cushing's syndrome aimed at finding new ways to diagnose, treat, and cure the disorder.
Summary : Methamphetamine - meth for short - is a very addictive stimulant drug. It is a powder that can be made into a pill or a shiny rock (called a crystal). The powder can be eaten or snorted up the nose. It can also be mixed with liquid and injected into your body with a needle. Crystal meth is smoked in a small glass pipe. Meth at first causes a rush of good feelings, but then users feel edgy, overly excited, angry, or afraid. Meth use can quickly lead to addiction. It causes medical problems including - Making your body temperature so high that you pass out - Severe itching - "Meth mouth" - broken teeth and dry mouth - Thinking and emotional problems NIH: National Institute on Drug Abuse
These resources address the diagnosis or management of Camurati-Engelmann disease: - Gene Review: Gene Review: Camurati-Engelmann Disease - Genetic Testing Registry: Diaphyseal dysplasia 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
Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide.
These resources address the diagnosis or management of nonsyndromic paraganglioma: - Genetic Testing Registry: Pheochromocytoma 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
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.