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Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), and myoclonus (shock-like contractions of a muscle. Other symptoms may include macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Each parent must carry the defective gene and pass it on to the child. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder.
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. NIH: National Institute of Neurological Disorders and Stroke
The NINDS conducts and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related disorders is expected to lead to the development of effective drug therapies.
All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with diabetes have some stage of diabetic retinopathy. If you have diabetic retinopathy, your doctor can recommend treatment to help prevent its progression. See how to find an eye care professional.
Medicare does cover skilled nursing care after a 3-day qualifying hospital stay. Skilled care is health care given when the person needs skilled nursing or rehabilitation staff to manage, observe, and evaluate his or her care. Care that can be given by non-professional staff isn't considered skilled care. Medicare does not cover custodial care or adult day care. For more information on Medicare coverage of skilled nursing facility care, visit http://www.medicare.gov to look at or print a copy of the booklet "Medicare Coverage of Skilled Nursing Facility Care." (Under "Search Tools," select "Find a Medicare Publication.") You can also call 1-800-Medicare (1-800-633-4227) to find out if a free copy can be mailed to you. TTY users should call 1-877-486-2048.
Patients with glomerular disease have significant amounts of protein in the urine, which may be referred to as "nephrotic range" if levels are very high. Red blood cells in the urine are a frequent finding as well, particularly in some forms of glomerular disease. Urinalysis provides information about kidney damage by indicating levels of protein and red blood cells in the urine. Blood tests measure the levels of waste products such as creatinine and urea nitrogen to determine whether the filtering capacity of the kidneys is impaired. If these lab tests indicate kidney damage, the doctor may recommend ultrasound or an x ray to see whether the shape or size of the kidneys is abnormal. These tests are called renal imaging. But since glomerular disease causes problems at the cellular level, the doctor will probably also recommend a kidney biopsya procedure in which a needle is used to extract small pieces of tissue for examination with different types of microscopes, each of which shows a different aspect of the tissue. A biopsy may be helpful in confirming glomerular disease and identifying the cause.
Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations. The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighboring blood vessel cells. The proteins interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels. Mutations in any of the three genes impair the function of the protein complex, resulting in weakened cell-to-cell junctions and increased leakage from vessels as seen in cerebral cavernous malformations. Mutations in these three genes account for 85 to 95 percent of all cases of familial cerebral cavernous malformations. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes. Mutations in the KRIT1, CCM2, and PDCD10 genes are not involved in sporadic cerebral cavernous malformations. The cause of this form of the condition is unknown.
The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move folates across the brush border membrane, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid). Mutations in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases the mutated protein is not transported to the cell membrane, and so it is unable to perform its function. A lack of functional PCFT impairs the body's ability to absorb folates from food, resulting in the signs and symptoms of hereditary folate malabsorption.
What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulate the immune system. The genetic cause of familial HLH, type 1 is currently unknown. Familial HLH, type 2 is caused by mutations in the PRF1 gene. Familial HLH, type 3 is caused by mutations in the UNC13D gene. Familial HLH, type 4 is caused by mutations in the STX11 gene. Familial HLH, type 5 is caused by mutations in the STXBP2 gene. All of the genes that cause HLH serve as the instructions for proteins that help destroy or turn off activated immune cells that are no longer needed. Changes in these genes lead to an overproduction of immune cells which results in an excessive immune response and the many signs and symptoms of familial HLH. The acquired causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.
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.
Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia in the blood). Although most affected people appear healthy at birth, features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include growth deficiency, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly. Arginase deficiency is caused by changes (mutations) in the ARG1 gene and is inherited in an autosomal recessive manner. Management is generally focused on lowering arginine levels and preventing hyperammonemia. This may be accomplished through restriction of dietary protein and use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions.
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 : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a damaged liver working. During a liver transplantation, the surgeon removes the diseased liver and replaces it with a healthy one. Most transplant livers come from a donor who has died. Sometimes there is a living donor. This is when a healthy person donates part of his or her liver for a specific patient. The most common reason for a transplant in adults is cirrhosis. This is scarring of the liver, caused by injury or long-term disease. The most common reason in children is biliary atresia, a disease of the bile ducts. If you have a transplant, you must take drugs the rest of your life to help keep your body from rejecting the new liver. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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 myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
OHF virus may be detected in blood samples by virus isolation in cell culture or using molecular techniques such as PCR. Blood samples can also be tested for antibody presence using enzyme-linked immunosorbent seologic assay (ELISA).
These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p 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 causes harlequin ichthyosis? Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein, while others lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
What are the signs and symptoms of Hairy nose tip? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. 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 hair - 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.
Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease.
Carbidopa is a drug that is usually given along with levodopa. It delays the body's conversion of levodopa into dopamine until the levodopa reaches the brain. This prevents or reduces some of the side effects that often accompany levodopa therapy. Carbidopa also reduces the amount of levodopa needed.
What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped. People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.
Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected 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.
These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i 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
Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.
Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urticaria); and/or open sores with dead tissue (necrotic ulcers). This condition is caused by an allergic reaction to a drug or other foreign substance. This condition usually goes away over time; but on occasion, people can have repeated episodes.
These resources address the diagnosis or management of CCHS: - Gene Review: Gene Review: Congenital Central Hypoventilation Syndrome - Genetic Testing Registry: Congenital central hypoventilation - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Summary : A volcano is a vent in the Earth's crust. Hot rock, steam, poisonous gases, and ash reach the Earth's surface when a volcano erupts. An eruption can also cause earthquakes, mudflows and flash floods, rock falls and landslides, acid rain, fires, and even tsunamis. Volcanic gas and ash can damage the lungs of small infants, older adults, and people with severe respiratory illnesses. Volcanic ash can affect people hundreds of miles away from the eruption. Although there are no guarantees of safety during a volcanic eruption, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency
As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. T cells identify foreign substances and defend the body against infection. The ZAP70 gene is important for the development and function of several types of T cells. These include cytotoxic T cells (CD8+ T cells), whose functions include destroying cells infected by viruses. The ZAP70 gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct and assist the functions of the immune system by influencing the activities of other immune system cells. Mutations in the ZAP70 gene prevent the production of zeta-chain-associated protein kinase or result in a protein that is unstable and cannot perform its function. A loss of functional zeta-chain-associated protein kinase leads to the absence of CD8+ T cells and an excess of inactive CD4+ T cells. The resulting shortage of active T cells causes people with ZAP70-related SCID to be more susceptible to infection.
These resources address the diagnosis or management of primary carnitine deficiency: - Baby's First Test - Gene Review: Gene Review: Systemic Primary Carnitine Deficiency - Genetic Testing Registry: Renal carnitine transport defect - The Linus Pauling Institute: L-Carnitine 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
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Where the cancer formed in the urethra. - Whether the cancer has spread through the mucosa lining the urethra to nearby tissue, to lymph nodes, or to other parts of the body. - Whether the patient is a male or female. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).
These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson 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
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.
These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The NINDS supports research on neurological disorders such as Melkersson-Rosenthal syndrome. Much of this research is aimed at increasing knowledge of these disorders and finding ways to treat, prevent, and ultimately cure them.
This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one working copy of the ATRX gene can usually compensate for the mutated copy. Therefore, females who carry a single mutated ATRX gene almost never have signs of alpha thalassemia X-linked intellectual disability syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Eating, diet, and nutrition have not been shown to play a role in causing or preventing UI in children, though ensuring sufficient fluid intake throughout the day and avoiding caffeine intake may be helpful.
Cushing's syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. Sometimes called hypercortisolism, Cushing's syndrome is relatively rare and most commonly affects adults aged 20 to 50. People who are obese and have type 2 diabetes, along with poorly controlled blood glucose-also called blood sugar-and high blood pressure, have an increased risk of developing the disorder.
Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. Doctors sometimes confuse PSP with Parkinson's disease or Alzheimer's disease. PSP has no cure and no effective treatments. Walking aids, special glasses and certain medicines might help somewhat. Although the disease gets worse over time, it isn't fatal on its own. However, PSP is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling. NIH: National Institute of Neurological Disorders and Stroke
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you - Are between ages 25 and 65 - Are a woman - Are Asian - Have a family member who has had thyroid disease - Have had radiation treatments to your head or neck You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute
Public education about botulism prevention is an ongoing activity. Information about safe canning is widely available for consumers. Persons in state health departments and at CDC are knowledgeable about botulism and available to consult with physicians 24 hours a day. If antitoxin is needed to treat a patient, it can be quickly delivered to a physician anywhere in the country. Suspected outbreaks of botulism are quickly investigated, and if they involve a commercial product, the appropriate control measures are coordinated among public health and regulatory agencies. Physicians should immediately report suspected cases of botulism to their state health department. For information and quidelines on canning foods at home: USDA Home Canning Guide
Topical treatments are those that are applied directly to the skin. Topical treatments for psoriasis include - salicylic acid, - steroid-based creams - calcipotriene-containing ointment - anthralin - coal-tar ointments and shampoos - and vitamin D analogues. salicylic acid, steroid-based creams calcipotriene-containing ointment anthralin coal-tar ointments and shampoos and vitamin D analogues.
Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include the following: - private health insurance, which includes group and individual health insurance - government health insurance, such as Medicare, Medicaid, the Childrens Health Insurance Program (CHIP), TRICARE, and veterans health care programs Starting in 2014, the Affordable Care Act (ACA) prevents insurers from denying coverage or charging higher premiums to people with preexisting conditions, such as diabetes. The ACA also requires most people to have health insurance or pay a fee. Some people may be exempt from this fee. Read more about the ACA at HealthCare.gov or call 18003182596, TTY 18558894325.
Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. Anything that increases your risk 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 doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for lip and oral cavity cancer include the following: - Using tobacco products. - Heavy alcohol use. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Being male.
Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions. SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.
What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown.
When breast cancer first develops, there may be no symptoms at all. But as the cancer grows, it can cause changes that women should watch for. You can help safeguard your health by learning the following warning signs of breast cancer. - a lump or thickening in or near the breast or in the underarm area - a change in the size or shape of the breast - ridges or pitting of the breast; the skin looks like the skin of an orange - a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly - nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. a lump or thickening in or near the breast or in the underarm area a change in the size or shape of the breast ridges or pitting of the breast; the skin looks like the skin of an orange a change in the way the skin of the breast, areola, or nipple looks or feels; for example, it may be warm, swollen, red, or scaly nipple discharge or tenderness, or the nipple is pulled back or inverted into the breast. You should see your doctor about any symptoms like these. Most often, they are not cancer, but it's important to check with the doctor so that any problems can be diagnosed and treated as early as possible.
Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include - Low bone density and osteoporosis, which make your bones weak and more likely to break - Osteogenesis imperfecta makes your bones brittle - Paget's disease of bone makes them weak - Bones can also develop cancer and infections - Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
These resources address the diagnosis or management of glycogen storage disease type III: - Gene Review: Gene Review: Glycogen Storage Disease Type III - Genetic Testing Registry: Glycogen storage disease type III 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 cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis 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
Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies.
These resources address the diagnosis or management of Adams-Oliver syndrome: - Contact a Family - Gene Review: Gene Review: Adams-Oliver Syndrome - Genetic Testing Registry: Adams-Oliver syndrome - Genetic Testing Registry: Adams-Oliver syndrome 5 - Genetic Testing Registry: Adams-Oliver syndrome 6 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
Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals.
The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.
Key Points - Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus. - Being exposed to x-rays can increase the risk of uterine sarcoma. - Signs of uterine sarcoma include abnormal bleeding. - Tests that examine the uterus are used to detect (find) and diagnose uterine sarcoma. - Certain factors affect prognosis (chance of recovery) and treatment options. Uterine sarcoma is a disease in which malignant (cancer) cells form in the muscles of the uterus or other tissues that support the uterus. The uterus is part of the female reproductive system. The uterus is the hollow, pear-shaped organ in the pelvis, where a fetus grows. The cervix is at the lower, narrow end of the uterus, and leads to the vagina. Uterine sarcoma is a very rare kind of cancer that forms in the uterine muscles or in tissues that support the uterus. (Information about other types of sarcomas can be found in the PDQ summary on Adult Soft Tissue Sarcoma Treatment.) Uterine sarcoma is different from cancer of the endometrium, a disease in which cancer cells start growing inside the lining of the uterus. (See the PDQ summary on Endometrial Cancer Treatment for information).
How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnose and treat the underlying condition which may include certain types of cancer; bacterial, viral, or parasitic infections; and/or other autoimmune disease. People with few symptoms and/or mild anemia may not require any specific treatment. These cases are often managed by simply avoiding exposure to the cold. In severe cases, medical interventions may be necessary. Rituximab (an antibody that selectively reduces specific types of immune cells) may be recommended either alone or in combination with other medications for people with severe hemolysis. Plasmapheresis, which involves filtering blood to remove antibodies, and/or blood transfusions may be an option for temporary relief of severe symptoms. Other therapies exist; however, they have been used with variable success. Medscape Reference's Web site offers more specific information about these alternative treatments. Please click on the link to access this resource.
A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. It usually occurs at the knee or elbow. Kneeling or leaning your elbows on a hard surface for a long time can make bursitis start. Doing the same kinds of movements every day or putting stress on joints increases your risk. Symptoms of bursitis include pain and swelling. Your doctor will diagnose bursitis with a physical exam and tests such as x-rays and MRIs. He or she may also take fluid from the swollen area to be sure the problem isn't an infection. Treatment of bursitis includes rest, pain medicines, or ice. If there is no improvement, your doctor may inject a drug into the area around the swollen bursa. If the joint still does not improve after 6 to 12 months, you may need surgery to repair damage and relieve pressure on the bursa. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
How is Myhre syndrome inherited? 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. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for CMML depend on the following: - The number of white blood cells or platelets in the blood or bone marrow. - Whether the patient is anemic. - The amount of blasts in the blood or bone marrow. - The amount of hemoglobin in red blood cells. - Whether there are certain changes in the chromosomes.
Gorham's disease is a rare bone disorder that is characterized by bone loss (osteolysis), often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. It may affect any part of the skeleton, but most commonly involves the skull, shoulder, and pelvis. The cause of Gorham's disease is currently unknown. Most cases occur randomly. Treatment is based on the signs and symptoms present in each affected person, and most commonly involves surgery and/or radiation therapy. In some cases, Gorham's disease improves without treatment (spontaneous remission).
Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. Beta-hexosaminidase A and the GM2 ganglioside activator protein work together in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down. Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of the AB variant. Because the AB variant impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.
Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).
ADVIRC is considered a rare disease. Its prevalence is unknown.
The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. The cervix has a small opening that expands during childbirth. It also allows menstrual blood to leave a woman's body. Your health care provider may perform a Pap test during your health checkup to look for changes to the cells of the cervix, including cervical cancer. Other problems with the cervix include: - Cervicitis - inflammation of the cervix. This is usually from an infection. - Cervical incompetence - This can happen during pregnancy. The opening of the cervix widens long before the baby is due. - Cervical polyps and cysts - abnormal growths on the cervix
Generally, physicians recommend surgery for children with hydromyelia if they have moderate or severe neurological deficits. Surgical treatment re-establishes the normal flow of spinal fluid.
How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol Muscle relaxants Anticonvulsant agents including phenytoin, valproic acid, and carbamazepine Sedatives Pain medications Stimulants Rarely, medications may not be effective in the treatment of chronic hiccups. In these cases, surgery to temporarily or permanently block the phrenic nerve may be performed. The phrenic nerve controls the diaphragm.
How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections. Although the pain usually subsides after several weeks or months, swelling may persist.
Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puerto Rico. Groups of affected individuals have been identified in many other regions, including India, Japan, the United Kingdom, and Western Europe.
What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.
Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine. Most mutations in the UMOD gene change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing progressive kidney disease.
What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males.
These resources address the diagnosis or management of XMEN: - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - MedlinePlus Encyclopedia: T Cell Count 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
There are two kinds of stroke. The most common kind of stroke is called ischemic stroke. It accounts for approximately 80 percent of all strokes. An ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind of stroke is called hemorrhagic stroke. A hemorrhagic stroke is caused by a blood vessel that breaks and bleeds into the brain.
This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns.
Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed.
Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. - A change in the size or shape of the breast. - A dimple or puckering in the skin of the breast. - A nipple turned inward into the breast. - Fluid, other than breast milk, from the nipple, especially if it's bloody. - Scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple). - Dimples in the breast that look like the skin of an orange, called peau dorange. It may be difficult to detect (find) breast cancer early in pregnant or nursing women. The breasts usually get larger, tender, or lumpy in women who are pregnant, nursing, or have just given birth. This occurs because of normal hormone changes that take place during pregnancy. These changes can make small lumps difficult to detect. The breasts may also become denser. It is more difficult to detect breast cancer in women with dense breasts using mammography. Because these breast changes can delay diagnosis, breast cancer is often found at a later stage in these women.
Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development. The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.
Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. In most cases, mild to severe intellectual disability is also present. While the exact cause of BPP is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder; however, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.
Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nails. When pachyonychia congenita is caused by mutations in the KRT6A gene, it is classified as PC-K6a. Similarly, KRT6B gene mutations cause PC-K6b, KRT6C gene mutations cause PC-K6c, KRT16 gene mutations cause PC-K16, and KRT17 gene mutations cause PC-K17. Mutations in keratin genes alter the structure of keratin proteins, which prevents these proteins from forming strong, stable networks within cells. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as walking can cause skin cells to break down, resulting in the formation of severe, painful blisters and calluses. Defective keratins also disrupt the growth and function of cells in the hair follicles and nails, resulting in the other features of pachyonychia congenita.
This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer 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 osteogenesis imperfecta: - Gene Review: Gene Review: COL1A1/2-Related Osteogenesis Imperfecta - Genetic Testing Registry: Osteogenesis imperfecta - Genetic Testing Registry: Osteogenesis imperfecta type 5 - Genetic Testing Registry: Osteogenesis imperfecta type 6 - Genetic Testing Registry: Osteogenesis imperfecta type 7 - Genetic Testing Registry: Osteogenesis imperfecta type 8 - Genetic Testing Registry: Osteogenesis imperfecta type I - Genetic Testing Registry: Osteogenesis imperfecta type III - Genetic Testing Registry: Osteogenesis imperfecta with normal sclerae, dominant form - Genetic Testing Registry: Osteogenesis imperfecta, recessive perinatal lethal - MedlinePlus Encyclopedia: Osteogenesis Imperfecta 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
Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.
Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose. Mutations in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.
Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The intestines are sometimes called the bowel.
Yes, you can prevent gum disease with proper dental hygiene and regular cleanings by your dentist or dental hygienist. Specifically, you should - brush your teeth twice a day (with a fluoride toothpaste). - floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. - visit the dentist routinely for a check-up and professional cleaning. - not smoke. - eat a well-balanced diet. (For more information, see "Eating Well As You Get Older" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html) brush your teeth twice a day (with a fluoride toothpaste). floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. visit the dentist routinely for a check-up and professional cleaning. not smoke. eat a well-balanced diet. (For more information, see "Eating Well As You Get Older" at http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html)
Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene.
Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal") and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; and involuntary blinking or spasms of the eyelid (blepharospasm). The condition usually subsides at the onset of puberty. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens. Management focuses on preventing "flare ups" and relieving the symptoms of the condition.
The prevalence of Alexander disease is unknown. About 500 cases have been reported since the disorder was first described in 1949.
Urinary retention is the inability to empty the bladder completely. Urinary retention can be acute or chronic. Acute urinary retention happens suddenly and lasts only a short time. People with acute urinary retention cannot urinate at all, even though they have a full bladder. Acute urinary retention, a potentially life-threatening medical condition, requires immediate emergency treatment. Acute urinary retention can cause great discomfort or pain. Chronic urinary retention can be a long-lasting medical condition. People with chronic urinary retention can urinate. However, they do not completely empty all of the urine from their bladders. Often people are not even aware they have this condition until they develop another problem, such as urinary incontinenceloss of bladder control, resulting in the accidental loss of urineor a urinary tract infection (UTI), an illness caused by harmful bacteria growing in the urinary tract.
Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems and high blood sugar. The symptoms can be similar. However, DI is related to how your kidneys handle fluids. It's much less common than DM. Urine and blood tests can show which one you have. Usually, DI is caused by a problem with your pituitary gland or your kidneys. Treatment depends on the cause of the problem. Medicines can often help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
- Urinary tract infections (UTIs) usually occur when the body fails to remove bacteria rapidly from the urinary tract. - UTIs affect about 3 percent of children in the United States every year. - Most UTIs are not serious, but chronic kidney infections can cause permanent damage. - A UTI in a young child may be a sign of an abnormality in the urinary tract that could lead to repeated problems. - Symptoms of a UTI range from slight burning with urination or unusual-smelling urine to severe pain and high fever. A child with a UTI may also have no symptoms. - Parents should talk with their health care provider if they suspect their child has a UTI.
These resources address the diagnosis or management of Melnick-Needles syndrome: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Melnick-Needles 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
Premenstrual syndrome, or PMS, is a group of symptoms that start one to two weeks before your period. Most women have at least some symptoms of PMS, and the symptoms go away after their periods start. For some women, the symptoms are severe enough to interfere with their lives. They have a type of PMS called premenstrual dysphoric disorder, or PMDD. Common PMS symptoms include - Breast swelling and tenderness - Acne - Bloating and weight gain - Pain - headache or joint pain - Food cravings - Irritability, mood swings, crying spells, depression No one knows what causes PMS, but hormonal changes trigger the symptoms. No single PMS treatment works for everyone. Over-the-counter pain relievers such as ibuprofen, aspirin or naproxen may help ease cramps, headaches, backaches and breast tenderness. Exercising, getting enough sleep, and avoiding salt, caffeine, and alcohol can also help. Dept. of Health and Human Services Office on Women's Health
These resources address the diagnosis or management of atelosteogenesis type 1: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 1 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