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A body lice infestation is treated by improving the personal hygiene of the infested person, including assuring a regular (at least weekly) change of clean clothes. Clothing, bedding, and towels used by the infested person should be laundered using hot water (at least 130°F) and machine dried using the hot cycle. Sometimes the infested person also is treated with a pediculicide, a medicine that can kill lice; however, a pediculicide generally is not necessary if hygiene is maintained and items are laundered appropriately at least once a week. A pediculicide should be applied exactly as directed on the bottle or by your physician. If you choose to treat, guidelines for the choice of the pediculicide are the same as for head lice. More on: Head Lice Treatment
A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs. Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function. Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.
The National Institute of Neurological Disorders and Stroke (NINDS) has launched a broad effort called NIH Exploratory Trials in Parkinson's Disease, or NET-PD, to find drugs to slow the progression of Parkinson's disease. The first studies tested several compounds. One of these, a nutritional supplement called creatine, is now being evaluated in a larger clinical trial to find out if it slows the clinical decline seen in people with Parkinson's disease. For more information on NET-PD trials visit: http://parkinsontrial.ninds.org.
Breast cancer affects one in eight women during their lives. Breast cancer kills more women in the United States than any cancer except lung cancer. No one knows why some women get breast cancer, but there are a number of risk factors. Risks that you cannot change include - Age - the chance of getting breast cancer rises as a woman gets older - Genes - there are two genes, BRCA1 and BRCA2, that greatly increase the risk. Women who have family members with breast or ovarian cancer may wish to be tested. - Personal factors - beginning periods before age 12 or going through menopause after age 55 Other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts. Symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. Breast self-exam and mammography can help find breast cancer early when it is most treatable. Treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy. Men can have breast cancer, too, but the number of cases is small. NIH: National Cancer Institute
The most common symptoms of COPD are a cough that does not go away and coughing up a lot of sputum (mucus). These symptoms may occur years before lung damage has reduced the flow of air in and out of the lungs. Other symptoms of COPD include shortness of breath, especially with exercise; wheezing (a whistling sound when you breathe); and tightness in the chest.
Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition. Hansen's disease is easily treated with combination antibiotics for 6 months to 2 years.
What causes bilateral perisylvian polymicrogyria? The exact underlying cause of bilateral perisylvian polymicrogyria (BPP) is unknown. The signs and symptoms associated with the condition are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. The cerebral cortex, which is responsible for conscious movement and thought, normally consists of several deep folds (gyri) and grooves (sulci). However, in people affected by BPP, the cerebral cortex has an abnormally increased number of gyri that are unusually small. Scientists believe that these abnormalities occur when newly developed brain cells fail to migrate to their destined locations in the outer portion of the brain. Specific non-genetic causes of polymicrogyria have been recognized, including exposure to cytomegalovirus infection (CMV) during pregnancy. Polymicrogyria has also been associated with certain complications in twin pregnancies.
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.
DDON syndrome is a rare disorder; it has been reported in fewer than 70 people worldwide.
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy. Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may slightly improve the prognosis in some affected children.
Huntingtons disease causes disability that gets worse over time. People with this disease usually die within 15 to 20 years following diagnosis. At this time, no treatment is available to slow, stop or reverse the course of HD.
In most cases of diarrhea, the only treatment necessary is replacing lost fluids and electrolytes to prevent dehydration. Over-the-counter medicines such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. However, people with bloody diarrheaa sign of bacterial or parasitic infectionshould not use these medicines. If diarrhea is caused by bacteria or parasites, over-the-counter medicines may prolong the problem, so doctors usually prescribe antibiotics instead. Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given with a doctors guidance.
Effective treatments are available. People who do not have any symptoms or signs of babesiosis usually do not need to be treated. Before considering treatment, the first step is to make sure the diagnosis is correct. For more information, people should talk to their health care provider. More on: Resources for Health Professionals: Treatment
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to CMV infection in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat CMV infection in people at risk of severe neurological consequences, especially a safe and effective CMV vaccine.
What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment.
What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related)
Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups.
Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam. Myoclonus may require the use of multiple drugs for effective treatment.
Persons with typhoid fever usually have a sustained fever as high as 103° to 104° F (39° to 40° C). They may also feel weak, or have stomach pains, headache, or loss of appetite. In some cases, patients have a rash of flat, rose-colored spots. The only way to know for sure if an illness is typhoid fever is to have samples of stool or blood tested for the presence of Salmonella Typhi. Typhoid fever’s danger doesn’t end when symptoms disappear: Even if your symptoms seem to go away, you may still be carrying Salmonella Typhi. If so, the illness could return, or you could pass the disease to other people. In fact, if you work at a job where you handle food or care for small children, you may be barred legally from going back to work until a doctor has determined that you no longer carry any typhoid bacteria. If you are being treated for typhoid fever, it is important to do the following: Keep taking the prescribed antibiotics for as long as the doctor has asked you to take them. Wash your hands carefully with soap and water after using the bathroom, and do not prepare or serve food for other people. This will lower the chance that you will pass the infection on to someone else. Have your doctor perform a series of stool cultures to ensure that no Salmonella Typhi bacteria remain in your body.
What are the signs and symptoms of Freiberg's disease? Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. Some people describe the sensation of walking on something hard, like a stone or a marble. Symptoms are generally triggered by weight-bearing activities, including walking. Occasionally, people with Freiberg's disease have no obvious symptoms of the condition, with changes noted only on X-rays taken for other purposes. Whether these people will later develop symptoms is not known.
Diagnosis of Taenia tapeworm infections is made by examination of stool samples; individuals should also be asked if they have passed tapeworm segments. Stool specimens should be collected on three different days and examined in the lab for Taenia eggs using a microscope. Tapeworm eggs can be detected in the stool 2 to 3 months after the tapeworm infection is established. Tapeworm eggs of T. solium can also infect humans, causing cysticercosis. It is important to diagnose and treat all tapeworm infections. More on: cysticercosis
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.
Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.
How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of the disease-causing gene in each cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. If a condition shows variable or reduced expressivity, it means that there can be a range in the nature and severity of signs and symptoms among affected individuals. Incomplete penetrance means that a portion of the individuals who carry the mutated copy of the disease-causing gene will not have any features of the condition.
How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features.
Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.
How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. Types of arthritis include - Osteoarthritis is the most common type of arthritis. It's often related to aging or to an injury. - Autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. Rheumatoid arthritis is the most common form of this kind of arthritis. - Juvenile arthritis is a type of arthritis that happens in children. - Infectious arthritis is an infection that has spread from another part of the body to the joint. - Psoriatic arthritis affects people with psoriasis. - Gout is a painful type of arthritis that happens when too much uric acid builds up in the body. It often starts in the big toe. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Summary : Triglycerides are a type of fat found in your blood. Too much of this type of fat may raise the risk of coronary artery disease, especially in women. A blood test measures your triglycerides along with your cholesterol. Normal triglyceride levels are below 150. Levels above 200 are high. Factors that can raise your triglyceride level include - Being overweight - Lack of physical activity - Smoking - Excessive alcohol use - A very high carbohydrate diet - Certain diseases and medicines - Some genetic disorders You may be able to lower your triglycerides with a combination of losing weight, diet, and exercise. You also may need to take medicine to lower your triglycerides. NIH: National Heart, Lung, and Blood Institute
The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include - A limp or paralyzed arm - Lack of muscle control in the arm, hand, or wrist - Lack of feeling or sensation in the arm or hand Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. Sometimes they happen during childbirth when a baby's shoulders become stuck during delivery and the nerves stretch or tear. Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment includes physical therapy and, in some cases, surgery. NIH: National Institute of Neurological Disorders and Stroke
These resources address the diagnosis or management of corticosteroid-binding globulin deficiency: - American Heart Association: Understanding Blood Pressure Readings - Genetic Testing Registry: Corticosteroid-binding globulin 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
Pubic ("crab") lice infestation is found worldwide and occurs in all races and ethnic groups and in all levels of society. Pubic lice usually are spread through sexual contact and are most common in adults. Occasionally pubic lice may be spread by close personal contact or contact with articles such as clothing, bed linens, and towels that have been used by an infested person. Pubic lice found on the head or eyelashes of children may be an indication of sexual exposure or abuse. Pubic lice do not transmit disease; however, secondary bacterial infection can occur from scratching of the skin.
TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robins sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen. Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.
In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities.
Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in the organization of cells in the retina by attaching cells together (cell adhesion). RS1 gene mutations result in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of cells in the retina. As a result, tiny splits (schisis) or tears form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In half of affected individuals, these abnormalities can occur in the area of the macula, affecting visual acuity, in the other half of cases the schisis occurs in the sides of the retina, resulting in impaired peripheral vision. Some individuals with X-linked juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.
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.
Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a family. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, tubular aggregate myopathy is inherited in an autosomal recessive pattern, which means both copies of a 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. Researchers are still working to determine which gene or genes are associated with autosomal recessive tubular aggregate myopathy.
Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. Sex hormones and a variety of environmental factors including viral infections, diet, stress, chemical exposures, and sunlight are also thought to play a role in triggering this complex disorder. About 10 percent of SLE cases are thought to be triggered by drug exposure, and more than 80 drugs that may be involved have been identified. In people with SLE, cells that have undergone self-destruction (apoptosis) because they are damaged or no longer needed are not cleared away properly. The relationship of this loss of function to the cause or features of SLE is unclear. Researchers suggest that these dead cells may release substances that cause the immune system to react inappropriately and attack the body's tissues, resulting in the signs and symptoms of SLE.
Mutations in the FGFR3 gene cause SADDAN. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A mutation in this gene may cause the FGFR3 protein to be overly active, which leads to the disturbances in bone growth that are characteristic of this disorder. Researchers have not determined how the mutation disrupts brain development or causes acanthosis nigricans.
Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA and any mistakes that are made when DNA is copied. In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By helping repair mistakes in DNA and ensuring proper DNA replication, the ChlR1 enzyme is involved in maintaining the stability of a cell's genetic information. DDX11 gene mutations severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to an accumulation of DNA damage. This DNA damage can appear as breaks in the DNA, giving the condition its name. It is unclear how these problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome.
How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). Surgical decompression might additionally be combined with stent placement, angioplasty, or vascular reconstruction of the celiac artery.
These resources address the diagnosis or management of oral-facial-digital syndrome: - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I - Genetic Testing Registry: Mohr syndrome - Genetic Testing Registry: Oral-facial-digital syndrome - Genetic Testing Registry: Orofacial-digital syndrome III - Genetic Testing Registry: Orofacial-digital syndrome IV - Genetic Testing Registry: Orofaciodigital syndrome 10 - Genetic Testing Registry: Orofaciodigital syndrome 11 - Genetic Testing Registry: Orofaciodigital syndrome 5 - Genetic Testing Registry: Orofaciodigital syndrome 6 - Genetic Testing Registry: Orofaciodigital syndrome 7 - Genetic Testing Registry: Orofaciodigital syndrome 8 - Genetic Testing Registry: Orofaciodigital syndrome 9 - Genetic Testing Registry: Orofaciodigital syndromes - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Polycystic Kidney Disease - MedlinePlus Encyclopedia: Polydactyly 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 reduce your skin cancer risk is to reduce your exposure to ultraviolet (UV) rays from the sun. To do this, you can avoid outdoor activities during midday, when the sun's rays are strongest, or wear protective clothing, such as a wide-brimmed hat, long-sleeved shirt, and pants. (Watch the video to learn more about how to protect your skin. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Darker-colored clothing is more protective against the sun. A white t-shirt, for example, provides little resistance to ultraviolet (UV) rays, particularly if it gets wet. In addition, wearing sunglasses that wrap around the face or have large frames is a good way to shield the delicate skin around the eyes. When going outside, you should always wear sunscreen and lipscreen. Your sunscreen should have an SPF of at least 15. UV radiation can also come from sunlamps, tanning beds, or tanning booths. UV radiation is present even in cold weather or on a cloudy day. A person's risk of cancer is related to lifetime exposure to UV radiation.
An electrocardiogram (e-lek-tro-KAR-de-o-gram), also called an EKG or ECG, is a simple, painless test that records the heart's electrical activity. To understand this test, it helps to understand how the heart works. With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As it travels, the signal causes the heart to contract and pump blood. The process repeats with each new heartbeat. The heart's electrical signals set the rhythm of the heartbeat. For more detailed information and animations, go to the Health Topics How the Heart Works article. An EKG shows: How fast your heart is beating Whether the rhythm of your heartbeat is steady or irregular The strength and timing of electrical signals as they pass through each part of your heart Doctors use EKGs to detect and study many heart problems, such as heart attacks, arrhythmias (ah-RITH-me-ahs), and heart failure. The test's results also can suggest other disorders that affect heart function.
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.
Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. Most affected individuals also acquire a second, somatic CEBPA gene mutation in their leukemia cells.
Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.
ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide.
These resources address the diagnosis or management of Williams syndrome: - Gene Review: Gene Review: Williams Syndrome - Genetic Testing Registry: Williams syndrome - MedlinePlus Encyclopedia: Williams 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
Mutations in the SCN9A gene can cause erythromelalgia. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The SCN9A gene mutations that cause erythromelalgia result in NaV1.7 sodium channels that open more easily than usual and stays open longer than normal, increasing the flow of sodium ions into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the signs and symptoms of erythromelalgia. It is unknown why the pain episodes associated with erythromelalgia mainly occur in the hands and feet. An estimated 15 percent of cases of erythromelalgia are caused by mutations in the SCN9A gene. Other cases are thought to have a nongenetic cause or may be caused by mutations in one or more as-yet unidentified genes.
These resources address the diagnosis or management of Meesmann corneal dystrophy: - Genetic Testing Registry: Meesman's corneal dystrophy - Merck Manual Home Health Handbook: Tests for Eye Disorders: The Eye Examination 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
Cap myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.
What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.
These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma: - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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.
If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage the covering on your nerves or the blood vessels that bring oxygen to your nerves. Damaged nerves may stop sending messages, or may send messages slowly or at the wrong times. This damage is called diabetic neuropathy. Over half of people with diabetes get it. Symptoms may include - Numbness in your hands, legs, or feet - Shooting pains, burning, or tingling - Nausea, vomiting, constipation, or diarrhea - Problems with sexual function - Urinary problems - Dizziness when you change positions quickly Your doctor will diagnose diabetic neuropathy with a physical exam and nerve tests. Controlling your blood sugar can help prevent nerve problems, or keep them from getting worse. Treatment may include pain relief and other medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
A person who has any of the following emergency symptoms should call or see a health care provider right away: - chest pain - sharp, sudden, persistent, and severe stomach pain - red blood in stool or black stools - red blood in vomit or vomit that looks like coffee grounds These symptoms could be signs of a serious problem, such as - internal bleedingwhen gastric acid or a peptic ulcer breaks a blood vessel - perforationwhen a peptic ulcer forms a hole in the duodenal wall - obstructionwhen a peptic ulcer blocks the path of food trying to leave the stomach
Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell cunt, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers but typically will not have symptoms.
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.
Mutations in the GALC gene cause Krabbe disease. These mutations cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and symptoms of Krabbe disease.
Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include - Weight loss - Muscle weakness - Fatigue that gets worse over time - Low blood pressure - Patchy or dark skin Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
These resources address the diagnosis or management of beta-ureidopropionase deficiency: - Genetic Testing Registry: Deficiency of beta-ureidopropionase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. 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 - Bruising susceptibility - Epistaxis - Menorrhagia - Ptosis - Purpura - 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.
Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel habits. Some people with the disorder have constipation. Some have diarrhea. Others go back and forth between the two. Although IBS can cause a great deal of discomfort, it does not harm the intestines. IBS is common. It affects about twice as many women as men and is most often found in people younger than 45 years. No one knows the exact cause of IBS. There is no specific test for it. Your doctor may run tests to be sure you don't have other diseases. These tests may include stool sampling tests, blood tests, and x-rays. Your doctor may also do a test called a sigmoidoscopy or colonoscopy. Most people diagnosed with IBS can control their symptoms with diet, stress management, probiotics, and medicine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. In rare cases, however, carrier females have shown some retinal abnormalities or mild hearing loss associated with Norrie disease.
Pressure sores are areas of damaged skin caused by staying in one position for too long. They commonly form where your bones are close to your skin, such as your ankles, back, elbows, heels and hips. You are at risk if you are bedridden, use a wheelchair, or are unable to change your position. Pressure sores can cause serious infections, some of which are life-threatening. They can be a problem for people in nursing homes. You can prevent the sores by - Keeping skin clean and dry - Changing position every two hours - Using pillows and products that relieve pressure Pressure sores have a variety of treatments. Advanced sores are slow to heal, so early treatment is best.
What are the signs and symptoms of Dyschromatosis universalis hereditaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyschromatosis universalis hereditaria. 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 - Hyperpigmented/hypopigmented macules - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she - Has dark skin - Spends too little time outside - Has on sunscreen all the time when out of doors - Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet - Is breastfed without receiving vitamin D supplements - Can't make or use vitamin D because of a medical disorder such as celiac disease In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States.
Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals.
Crigler-Najjar syndrome is inherited in an autosomal recessive pattern, which means both copies of the UGT1A1 gene in each cell have mutations. A less severe condition called Gilbert syndrome can occur when one copy of the UGT1A1 gene has a mutation.
Treatment for RMDs usually includes reducing or stopping the motions that cause symptoms. Options include taking breaks to give the affected area time to rest, and adopting stretching and relaxation exercises. Applying ice to the affected area and using medications such as pain relievers, cortisone, and anti-inflammatory drugs can reduce pain and swelling. Splints may be able to relieve pressure on the muscles and nerves. Physical therapy may relieve the soreness and pain in the muscles and joints. In rare cases, surgery may be required to relieve symptoms and prevent permanent damage. Some employers have developed ergonomic programs to help workers adjust their pace of work and arrange office equipment to minimize problems.
You can take the following steps to help prevent your child from getting a UTI: - Teach your child not to hold in urine and to go to the bathroom whenever your child feels the urge. - Teach your child how to properly clean himself or herself after using the bathroom to keep bacteria from entering the urinary tract. - Have your child wear loose-fitting clothes. Tight clothes can trap moisture, which allows bacteria to grow. - Buy your child cotton underwear. Cotton lets in air to dry the area. - If your child has constipation, talk with a health care provider about the best treatment options.
What are the signs and symptoms of Gamma-cystathionase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Gamma-cystathionase deficiency. 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 recessive inheritance - Cystathioninuria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
How might Budd-Chiari syndrome be treated? The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include: Blood-thinning (anticoagulation) medications Clot-busting drugs (thrombolytic treatment) Treatment for the liver disease, including ascites Surgical treatments may also be considered and include: Angioplasty and stent placement Transjugular intrahepatic portosystemic shunt (TIPS) Venous shunt surgery While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%). You can view more detailed information regarding the medical and surgical options for treatment of Budd-Chiari syndrome by clicking here.
Pelvic inflammatory disease (PID) is an infection and inflammation of the uterus, ovaries, and other female reproductive organs. It causes scarring in these organs. This can lead to infertility, ectopic pregnancy, pelvic pain, abscesses, and other serious problems. PID is the most common preventable cause of infertility in the United States. Gonorrhea and chlamydia, two sexually transmitted diseases, are the most common causes of PID. Other bacteria can also cause it. You are at greater risk if you - Are sexually active and younger than 25 - Have more than one sex partner - Douche Some women have no symptoms. Others have pain in the lower abdomen, fever, smelly vaginal discharge, irregular bleeding, and pain during intercourse or urination. Doctors diagnose PID with a physical exam, lab tests, and imaging tests. Antibiotics can cure PID. Early treatment is important. Waiting too long increases the risk of infertility. NIH: National Institute of Allergy and Infectious Diseases
The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.
Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of cancerous and noncancerous tumors. It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. The proteins produced from these genes interact with one another and with the H-Ras protein as part of the same cell growth and division pathway. These interactions help explain why mutations in different genes can cause conditions with overlapping signs and symptoms.
The exact prevalence of 3-HSD deficiency is unknown. At least 60 affected individuals have been reported.
These resources address the diagnosis or management of activated PI3K-delta syndrome: - Genetic Testing Registry: Activated PI3K-delta syndrome - National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking To Your Doctor 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 Majeed syndrome be treated? Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.
Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system ad to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new means to treat and prevent developmental brain disorders.
Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known. How is Hailey-Hailey disease diagnosed? Diagnosis of Hailey-Hailey disease is usually made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be required. Genetic testing is available to confirm the diagnosis of Hailey-Hailey disease, but is not required.
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.
To help reduce symptoms, a health care provider may recommend the following dietary changes: - avoid foods and drinks that contain caffeine or artificial sugars - drink plenty of liquids to prevent dehydration during episodes of diarrhea - eat a milk-free diet if the person is also lactose intolerant - eat a gluten-free diet People should talk with their health care provider or dietitian about what type of diet is right for them. Surgery When the symptoms of microscopic colitis are severe and medications arent effective, a gastroenterologist may recommend surgery to remove the colon. Surgery is a rare treatment for microscopic colitis. The gastroenterologist will exclude other causes of symptoms before considering surgery.
Imerslund-Grsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Grsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Grsbeck syndrome appear to have normal kidney function. Imerslund-Grsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Grsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).
Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. A few individuals with metachromatic leukodystrophy have mutations in the PSAP gene. This gene provides instructions for making a protein that is broken up (cleaved) into smaller proteins that assist enzymes in breaking down various fats. One of these smaller proteins is called saposin B; this protein works with arylsulfatase A to break down sulfatides. Mutations in the ARSA or PSAP genes result in a decreased ability to break down sulfatides, resulting in the accumulation of these substances in cells. Excess sulfatides are toxic to the nervous system. The accumulation gradually destroys myelin-producing cells, leading to the impairment of nervous system function that occurs in metachromatic leukodystrophy. In some cases, individuals with very low arylsulfatase A activity show no symptoms of metachromatic leukodystrophy. This condition is called pseudoarylsulfatase deficiency.
These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase 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
Anemia of inflammation and chronic disease typically develops slowly and, because it is usually mild, may cause few or no symptoms. Symptoms of anemia may also be masked by the symptoms of the underlying disease. Sometimes, AI/ACD can cause or contribute to - fatigue - weakness - pale skin - a fast heartbeat - shortness of breath - exercise intolerance
How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open. Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.
What are the signs and symptoms of Orofaciodigital syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the odontoid process - Cleft palate - Intellectual disability - Kyphoscoliosis - Sporadic - 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.
- A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. - 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. - Diagnosing a cystocele requires medical tests and a physical exam of the vagina. - Cystocele treatment depends on the severity of the cystocele and whether a woman has symptoms.
Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 gene reduce the activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism. In some people with rapid-onset dystonia parkinsonism, no mutation in the ATP1A3 gene has been identified. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder.
What are the signs and symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant compelling helio ophthalmic outburst syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - 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.
The complications of childhood nephrotic syndrome may include - infection. When the kidneys are damaged, a child is more likely to develop infections because the body loses proteins that normally protect against infection. Health care providers will prescribe medications to treat infections. Children with childhood nephrotic syndrome should receive the pneumococcal vaccine and yearly flu shots to prevent those infections. Children should also receive age-appropriate vaccinations, although a health care provider may delay certain live vaccines while a child is taking certain medications. - blood clots. Blood clots can block the flow of blood and oxygen through a blood vessel anywhere in the body. A child is more likely to develop clots when he or she loses proteins through the urine. The health care provider will treat blood clots with blood-thinning medications. - high blood cholesterol. When albumin leaks into the urine, the albumin levels in the blood drop. The liver makes more albumin to make up for the low levels in the blood. At the same time, the liver makes more cholesterol. Sometimes children may need treatment with medications to lower blood cholesterol levels.
At least 50 cases of Hennekam syndrome have been reported worldwide.
Salih myopathy appears to be a rare disorder, although its prevalence is unknown. It has been reported in a small number of families of Moroccan and Sudanese descent.
Summary : Your vital signs show how well your body is functioning. They are usually measured at doctor's offices, often as part of a health checkup, or during an emergency room visit. They include - Blood pressure, which measures the force of your blood pushing against the walls of your arteries. Blood pressure that is too high or too low can cause problems. Your blood pressure has two numbers. The first number is the pressure when your heart beats and is pumping the blood. The second is from when your heart is at rest, between beats. A normal blood pressure reading for adults is lower than 120/80 and higher than 90/60. - Heart rate, or pulse, which measures how fast your heart is beating. A problem with your heart rate may be an arrhythmia. Your normal heart rate depends on factors such as your age, how much you exercise, whether you are sitting or standing, which medicines you take, and your weight. - Respiratory rate, which measures your breathing. Mild breathing changes can be from causes such as a stuffy nose or hard exercise. But slow or fast breathing can also be a sign of a serious breathing problem. - Temperature, which measures how hot your body is. A body temperature that is higher than normal (over 98.6 degrees F) is called a fever.
Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea.