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Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, into and out of cells. Although the function of pendrin is not fully understood, this protein is important for maintaining the proper levels of ions in the thyroid and the inner ear. Mutations in the SLC26A4 gene alter the structure or function of pendrin, which disrupts ion transport. An imbalance of particular ions disrupts the development and function of the thyroid gland and structures in the inner ear, which leads to the characteristic features of Pendred syndrome. In people with Pendred syndrome who do not have mutations in the SLC26A4 gene, the cause of the condition is unknown. Researchers suspect that other genetic and environmental factors may influence the condition.
This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS.
These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital dyserythropoietic anemia, type III - MedlinePlus Encyclopedia: Ham Test - MedlinePlus Encyclopedia: Hepatomegaly - MedlinePlus Encyclopedia: Jaundice - MedlinePlus Encyclopedia: Splenomegaly 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
Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, the condition appears to follow an autosomal recessive pattern of inheritance, 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.
What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 2. 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) Alopecia universalis - Autosomal recessive inheritance - Intellectual disability - 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.
Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. In other affected families, the cause of tetra-amelia syndrome has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in limb development are probably responsible for the disorder in these cases.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. Having a single mutated copy of the FLCN gene in each cell is enough to cause the skin tumors and lung problems associated with Birt-Hogg-Dub syndrome. However, both copies of the FLCN gene are often mutated in the kidney tumors that occur with this condition. One of the mutations is inherited from a parent, while the other occurs by chance in a kidney cell during a person's lifetime. These genetic changes disable both copies of the FLCN gene, which allows kidney cells to divide uncontrollably and form tumors.
Your mind works a lot like a computer. Your brain puts information it judges to be important into "files." When you remember something, you pull up a file. Memory doesn't always work perfectly. As people grow older, it may take longer to retrieve those files. Some adults joke about having a "senior moment." It's normal to forget things once in awhile. We've all forgotten a name, where we put our keys, or if we locked the front door. Seniors who forget things more often than others their age may have mild cognitive impairment. Forgetting how to use the telephone or find your way home may be signs of a more serious problem. These include Alzheimer's disease or other types of dementia, stroke, depression, head injuries, thyroid problems, or reactions to certain medicines. If you're worried about your forgetfulness, see your doctor. NIH: National Institute on Aging
These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary diffuse gastric cancer - MedlinePlus Encyclopedia: Gastric Cancer - Memorial Sloan-Kettering Cancer Center: Early Onset and Familial Gastric Cancer Registry - National Cancer Institute: Gastric Cancer Treatment Option Overview 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
Oxygen therapy is a treatment that provides you with extra oxygen. Oxygen is a gas that your body needs to function. Normally, your lungs absorb oxygen from the air you breathe. But some conditions can prevent you from getting enough oxygen. You may need oxygen if you have - COPD (chronic obstructive pulmonary disease) - Pneumonia - A severe asthma attack - Late-stage heart failure - Cystic fibrosis - Sleep apnea The oxygen comes through nasal prongs, a mask, or a breathing tube. If you have a chronic problem, you may have a portable oxygen tank or a machine in your home. A different kind of oxygen therapy is called hyperbaric oxygen therapy. It uses oxygen at high pressure to treat wounds and serious infections. NIH: National Heart, Lung, and Blood Institute
Polycythemia vera (PV) is a rare blood disease. The disease affects people of all ages, but it's most common in adults who are older than 60. PV is rare in children and young adults. Men are at slightly higher risk for PV than women.
How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases. The social and emotional impact of this condition should also be addressed. Detailed information on the treatment of amelogenesis imperfecta is available from the UNC School of Dentistry.
How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.
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.
Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.
For unruptured aneurysms, treatment may be recommended for large or irregularly-shaped aneurysms or for those causing symptoms. Emergency treatment for individuals with a ruptured cerebral aneurysm may be required to restore deteriorating respiration and reduce abnormally high pressure within the brain. Treatment is necessary to prevent the aneurysm from rupturing again. Surgical treatment prevents repeat aneurysm rupture by placing a metal clip at the base of the aneurysm. Individuals for whom surgery is considered too risky may be treated by inserting the tip of a catheter into an artery in the groin and advancing it through the blood stream to the site of the aneurysm, where it is used to insert metal coils that induce clot formation within the aneurysm.
PPS is a very slowly progressing condition marked by long periods of stability. The severity of PPS depends on the degree of the residual weakness and disability an individual has after the original polio attack. People who had only minimal symptoms from the original attack and subsequently develop PPS will most likely experience only mild PPS symptoms. People originally hit hard by the polio virus, who were left with severe residual weakness, may develop a more severe case of PPS with a greater loss of muscle function, difficulty in swallowing, and more periods of fatigue.
WD requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine are copper chelators that increase urinary excretion of copper; however, both drugs have some side effects. Tetrathiomolybdate is an investigational copper chelating drug with a lower toxicity profile, but it has not been approved by the Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness arent known. A low-copper diet is also recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.
If you have chronic hepatitis B, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.
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.
Summary : Laboratory tests check a sample of your blood, urine, or body tissues. A technician or your doctor analyzes the test samples to see if your results fall within the normal range. The tests use a range because what is normal differs from person to person. Many factors affect test results. These include - Your sex, age and race - What you eat and drink - Medicines you take - How well you followed pre-test instructions Your doctor may also compare your results to results from previous tests. Laboratory tests are often part of a routine checkup to look for changes in your health. They also help doctors diagnose medical conditions, plan or evaluate treatments, and monitor diseases.
Depending on the cause of your taste disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the problem, your doctor may be able to adjust or change your medicine. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections regain their sense of taste when the illness is over. Often, correcting a general medical problem can restore the sense of taste. Occasionally, the sense of taste returns to normal on its own without any treatment.
How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers 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.
What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS. Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.
What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition.
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities - Brush your teeth every day with a fluoride toothpaste - Clean between your teeth every day with floss or another type of between-the-teeth cleaner - Snack smart - limit sugary snacks - See your dentist or oral health professional regularly
What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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) Sandal gap 90% Clinodactyly of the 5th finger 50% Autosomal recessive inheritance - Broad hallux - Hallux varus - Preaxial hand polydactyly - Syndactyly - 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.
1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed.
These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause essential tremor have been identified. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no history of the disorder in their family. In some families, some individuals have essential tremor while others have other movement disorders, such as involuntary muscle tensing (dystonia). The potential genetic connection between essential tremor and other movement disorders is an active area of research.
How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. Surgery of the internal jugular vein may be required only in the rare patient who fails to respond to antibiotic treatment alone.
Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with hypochondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have more severe problems with bone growth than those who inherit a single FGFR3 mutation.
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type
Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. First-degree relatives (such as siblings and children) of people with Dandy-Walker malformation have an increased risk of developing the condition compared with people in the general population. When Dandy-Walker malformation is a feature of a genetic condition, it is inherited in the pattern of that condition.
These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlus Encyclopedia: Erythropoietin 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
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.
Health history affects the risk of developing rectal cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more. - Having three or more alcoholic drinks per day. - Smoking cigarettes. - Being black. - Being obese. Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older.
Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. Vasculitic disorders can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. Vasculitis disorders, or syndromes, of the CNS and PNS are characterized by the presence of inflammatory cells in and around blood vessels, and secondary narrowing or blockage of the blood vessels that nourish the brain, spinal cord, or peripheral nerves. A vasculitic syndrome may begin suddenly or develop over time. Symptoms include headaches, especially a headache that doesnt go away; fever, rapid weight loss; confusion or forgetfulness leading to dementia; swelling of the brain, pain while chewing or swallowing; paralysis or numbness, usually in the arms or legs; and visual disturbances, such as double vision, blurred vision, or blindness Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasus disease, which affects larger aortas and may cause stoke.
Most people with pyelonephritis do not have complications if appropriately treated with bacteria-fighting medications called antibiotics. In rare cases, pyelonephritis may cause permanent kidney scars, which can lead to chronic kidney disease, high blood pressure, and kidney failure. These problems usually occur in people with a structural problem in the urinary tract, kidney disease from other causes, or repeated episodes of pyelonephritis. Infection in the kidneys may spread to the bloodstreama serious condition called sepsisthough this is also uncommon.
These resources address the diagnosis or management of PMAH: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for Adrenal Gland Disorders? - Genetic Testing Registry: Acth-independent macronodular adrenal hyperplasia 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
People at highest risk for Marfan syndrome are those who have a family history of the condition. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children. Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, and children, and people of all races, can have the condition.
Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family. Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies of an associated 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. In a few affected families, the disorder has had an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the condition.
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed. Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.
How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitters Local anaesthetic creams Amitriptyline tablets at night Transcutaneous electrical nerve stimulation (TENS) Gabapentin Oxcarbazepine Botulinum toxin Phototherapy Exercise Additional information about treatment of notalgia paresthetica can be accessed by clicking here. You can find relevant journal articles on treatment of notalgia paresthetica through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'notalgia paresthetica AND treatment' as your search term should locate 10 articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
Blood alcohol concentration (BAC) measures the percentage of ethanolthe chemical name for alcohol in alcoholic beveragesin a persons blood. As you drink, you increase your blood alcohol concentration (BAC) level. The higher the BAC, the more impaired a person is. In all states, it is against the law for people to drive if their blood alcohol concentration is above .08. The effects of increased blood alcohol levels can include - reduced inhibitions - slurred speech - motor impairment - confusion - memory problems - concentration problems - coma - breathing problems - death. reduced inhibitions slurred speech motor impairment confusion memory problems concentration problems coma breathing problems death. Learn more about the risks of alcohol overdose.
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.
Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthritis. A problem with your immune system causes psoriasis. In a process called cell turnover, skin cells that grow deep in your skin rise to the surface. Normally, this takes a month. In psoriasis, it happens in just days because your cells rise too fast. Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor might need to look at a small skin sample under a microscope. Psoriasis can last a long time, even a lifetime. Symptoms come and go. Things that make them worse include - Infections - Stress - Dry skin - Certain medicines Psoriasis usually occurs in adults. It sometimes runs in families. Treatments include creams, medicines, and light therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited. Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some cases, no underlying cause can be identified.
Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis, is a rare disease. It is a type of vasculitis, or inflammation of the blood vessels. The inflammation limits the flow of blood to important organs, causing damage. It can affect any organ, but it mainly affects the sinuses, nose, trachea (windpipe), lungs, and kidneys. The cause of GPA is unknown. It can affect people at any age. Men and women are equally affected. It is more common in whites. Symptoms may include joint pain, weakness, tiredness, and cold symptoms such as a runny nose that doesn't get better. Doctors use blood tests, chest X-rays, and biopsies to diagnose GPA and rule out other causes of the symptoms. Early treatment is important. Most people improve with medicines to slow or stop the inflammation. NIH: National Institute of Allergy and Infectious Diseases
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature.
Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited.
These resources address the diagnosis or management of hypomagnesemia with secondary hypocalcemia: - Genetic Testing Registry: Hypomagnesemia 1, intestinal - MedlinePlus Encyclopedia: Hypomagnesemia 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 X-linked infantile nystagmus: - Gene Review: Gene Review: FRMD7-Related Infantile Nystagmus - Genetic Testing Registry: Infantile nystagmus, X-linked - MedlinePlus Encyclopedia: Nystagmus 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
Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with - Attention and awareness - Thinking and memory - Emotion - Muscle control - Sleeping and waking Causes of delirium include medications, poisoning, serious illnesses or infections, and severe pain. It can also be part of some mental illnesses or dementia. Delirium and dementia have similar symptoms, so it can be hard to tell them apart. They can also occur together. Delirium starts suddenly and can cause hallucinations. The symptoms may get better or worse, and can last for hours or weeks. On the other hand, dementia develops slowly and does not cause hallucinations. The symptoms are stable, and may last for months or years. Delirium tremens is a serious type of alcohol withdrawal syndrome. It usually happens to people who stop drinking after years of alcohol abuse. People with delirium often, though not always, make a full recovery after their underlying illness is treated.
There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzyme replacement and gene therapies might also be helpful for those with type B. restricting one's diet does not prevent the buildup of lipids in cells and tissues.
What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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 - Dermatographic urticaria - 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.
There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.
Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.
These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Summary : Assisted living is for adults who need help with everyday tasks. They may need help with dressing, bathing, eating, or using the bathroom, but they don't need full-time nursing care. Some assisted living facilities are part of retirement communities. Others are near nursing homes, so a person can move easily if needs change. Assisted living costs less than nursing home care. It is still fairly expensive. Older people or their families usually pay for it. Health and long-term care insurance policies may cover some of the costs. Medicare does not cover the costs of assisted living. Administration on Aging
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking. People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.
This condition affects an estimated 1 in 8,500 females.
The signs and symptoms of adult brain and spinal cord tumors are not the same in every person. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - What the affected part of the brain controls. - The size of the tumor. Signs and symptoms may be caused by CNS tumors or by other conditions, including cancer that has spread to the brain. Check with your doctor if you have any of the following: Brain Tumor Symptoms - Morning headache or headache that goes away after vomiting. - Seizures. - Vision, hearing, and speech problems. - Loss of appetite. - Frequent nausea and vomiting. - Changes in personality, mood, ability to focus, or behavior. - Loss of balance and trouble walking. - Weakness. - Unusual sleepiness or change in activity level. Spinal Cord Tumor Symptoms - Back pain or pain that spreads from the back towards the arms or legs. - A change in bowel habits or trouble urinating. - Weakness or numbness in the arms or legs. - Trouble walking.
Key Points - There is no staging system for Langerhans cell histiocytosis (LCH). - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected. There is no staging system for Langerhans cell histiocytosis (LCH). The extent or spread of cancer is usually described as stages. There is no staging system for LCH. Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected. LCH is described as single-system disease or multisystem disease, depending on how many body systems are affected: - Single-system LCH: LCH is found in one part of an organ or body system (unifocal) or in more than one part of that organ or body system (multifocal). Bone is the most common single place for LCH to be found. - Multisystem LCH: LCH occurs in two or more organs or body systems or may be spread throughout the body. Multisystem LCH is less common than single-system LCH. LCH may affect low-risk organs or high-risk organs: - Low-risk organs include the skin, bone, lungs, lymph nodes, gastrointestinal tract, pituitary gland, and central nervous system (CNS). - High-risk organs include the liver, spleen, and bone marrow.
Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. Doctors have observed that boys are more often affected than girls.
Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide.
What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like 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) Autosomal recessive inheritance - Contracture of the proximal interphalangeal joint of the 2nd finger - Ovarian cyst - Overlapping toe - Subglottic stenosis - 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.
Hypothyroidism is a disorder that occurs when the thyroid gland does not make enough thyroid hormone to meet the bodys needs. Thyroid hormone regulates metabolismthe way the body uses energyand affects nearly every organ in the body. Without enough thyroid hormone, many of the bodys functions slow down. About 4.6 percent of the U.S. population age 12 and older has hypothyroidism.1
These resources address the diagnosis or management of familial atrial fibrillation: - Genetic Testing Registry: Atrial fibrillation, familial, 1 - Genetic Testing Registry: Atrial fibrillation, familial, 2 - Genetic Testing Registry: Atrial fibrillation, familial, 3 - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Atrial fibrillation/flutter 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 Denys-Drash syndrome is unknown; at least 150 affected individuals have been reported in the scientific literature.
What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. 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) Accelerated skeletal maturation 90% Bone cyst 90% Cerebral calcification 90% EEG abnormality 90% Macrocephaly 90% Tall stature 90% Incoordination 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease.
These resources address the diagnosis or management of fish-eye disease: - Genetic Testing Registry: Fish-eye disease - MedlinePlus Encyclopedia: Corneal Transplant - Oregon Health and Science University: Corneal Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed.
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner. There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
How might human T-cell leukemia virus, type 1 be treated? No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.
Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have been reported worldwide.
Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. An unusually small head (microcephaly) and progressive loss of nerve cells in the brain are also characteristic features of this disorder. Children with infantile NCL usually do not survive past childhood. Infantile NCL is one of a group of NCLs (collectively called Batten disease) that affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear.
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.
Key Points - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer. - Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. - Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx. The hypopharynx is the bottom part of the pharynx (throat). The pharynx is a hollow tube about 5 inches long that starts behind the nose, goes down the neck, and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. Most hypopharyngeal cancers form in squamous cells, the thin, flat cells lining the inside of the hypopharynx. The hypopharynx has 3 different areas. Cancer may be found in 1 or more of these areas. Hypopharyngeal cancer is a type of head and neck cancer.
How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features. Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. Please click on the link to access this resource.
These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy - University of Texas Southwestern Medical Center: Lipodystrophy 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
Animal diseases that people can catch are called zoonoses. Many diseases affecting humans can be traced to animals or animal products. You can get a disease directly from an animal, or indirectly, through the environment. Farm animals can carry diseases. If you touch them or things they have touched, like fencing or buckets, wash your hands thoroughly. Adults should make sure children who visit farms or petting zoos wash up as well. Though they may be cute and cuddly, wild animals may carry germs, viruses, and parasites. Deer and deer mice carry ticks that cause Lyme disease. Some wild animals may carry rabies. Enjoy wildlife from a distance. Pets can also make you sick. Reptiles pose a particular risk. Turtles, snakes and iguanas can transmit Salmonella bacteria to their owners. You can get rabies from an infected dog or toxoplasmosis from handling kitty litter of an infected cat. The chance that your dog or cat will make you sick is small. You can reduce the risk by practicing good hygiene, keeping pet areas clean and keeping your pets' shots up-to-date.
Key Points - Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. - Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. - Certain factors affect prognosis (chance of recovery) and treatment options for primary myelofibrosis. Primary myelofibrosis is a disease in which abnormal blood cells and fibers build up inside the bone marrow. The bone marrow is made of tissues that make blood cells (red blood cells, white blood cells, and platelets) and a web of fibers that support the blood-forming tissues. In primary myelofibrosis (also called chronic idiopathic myelofibrosis), large numbers of blood stem cells become blood cells that do not mature properly (blasts). The web of fibers inside the bone marrow also becomes very thick (like scar tissue) and slows the blood-forming tissues ability to make blood cells. This causes the blood-forming tissues to make fewer and fewer blood cells. In order to make up for the low number of blood cells made in the bone marrow, the liver and spleen begin to make the blood cells.
Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase. Glutaric acidemia type II is caused by a deficiency in either of these two enzymes. Electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase are normally active in the mitochondria, which are the energy-producing centers of cells. These enzymes help break down proteins and fats to provide energy for the body. When one of the enzymes is defective or missing, partially broken down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II. People with mutations that result in a complete loss of either enzyme produced from the ETFA, ETFB or ETFDH genes are likely to experience the most severe symptoms of glutaric acidemia type II. Mutations that allow the enzyme to retain some activity may result in milder forms of the disorder.
Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast.
How might Crigler Najjar syndrome, type 2 be treated? Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. Severely affected patients have been treated with plasmapheresis and even liver transplantation. These options may be most relevant for individuals with the more severe type I disease. In type II disease, much of the literature supports that long-term reduction in serum bilirubin levels can be achieved with continued administration of phenobarbital. We recommend that you continue to work closely with your primary health care provider in monitoring your bilirubin levels and the effectiveness of the prescribed therapy.
When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly. There are many kinds of eye movement disorders. Two common ones are - Strabismus - a disorder in which the two eyes don't line up in the same direction. This results in "crossed eyes" or "walleye." - Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over time and may be associated with other problems, such as injuries. Treatments include glasses, patches, eye muscle exercises, and surgery. There is no cure for some kinds of eye movement disorders, such as most kinds of nystagmus.
How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis).
Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. The condition is usually caused by benign tumors on the pituitary called adenomas. Rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain. Acromegaly is usually treatable but when left untreated, it can result in serious illness and premature death. When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.
These resources address the diagnosis or management of CMAMMA: - Genetic Testing Registry: Combined malonic and methylmalonic aciduria - Organic Acidemia Association: What are Organic Acidemias? 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 Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation 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) Generalized osteoporosis - Hypopigmentation of the skin - Ocular albinism - 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 GM2-gangliosidosis, AB variant: - Genetic Testing Registry: Tay-Sachs disease, variant AB 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
Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. Once a diagnosis has been made, the underlying condition is treated first, followed by symptomatic and supportive therapy for the hypotonia. Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs.
Poor health can contribute to being homeless, and being homeless can lead to poor health. Limited access to health care can make it worse. That's why the health of homeless people in the United States is worse than that of the general population. Common health problems include - Mental health problems - Substance abuse problems - Bronchitis and pneumonia - Problems caused by being outdoors - Wound and skin infections Many homeless women are victims of domestic or sexual abuse. Homeless children have high rates of emotional and behavioral problems, often from having witnessed abuse. Help such as shelters, health centers, and free meals are available. Contact your local homelessness assistance agency.