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Research suggests that exercise may play a role in reducing risk for Alzheimers disease. Animal studies show that exercise increases both the number of small blood vessels that supply blood to the brain and the number of connections between nerve cells in older rats and mice. In addition, researchers have found that exercise raises the level of a nerve growth factor (a protein key to brain health) in an area of the brain that is important to memory and learning. Learn more about the benefits of exercise for older adults. For more on specific exercises geared to the needs of older adults, visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging.
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.
The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth.
There is no "cure" for ADHD. Children with the disorder seldom outgrow it; however, some may find adaptive ways to accommodate the ADHD as they mature.
Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene.
These resources address the diagnosis or management of septo-optic dysplasia: - Genetic Testing Registry: Septo-optic dysplasia sequence - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Hypopituitarism 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
Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. 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 15q 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.
Keeping the mind sharpthrough social engagement or intellectual stimulationis associated with a lower risk of Alzheimers disease. Activities like working, volunteering, reading, going to lectures, and playing computer and other games are being studied to see if they might help prevent Alzheimers. But we do not know with certainty whether these activities can actually prevent Alzheimers. Find out about things you can do that may keep your brain healthy.
The NINDS supports research on developmental disorders, such as developmental dyspraxia, aimed at learning more about these disorders, and finding ways to prevent and treat them.
Most foods that contain carbohydrates can cause gas. In contrast, fats and proteins cause little gas. Foods that produce gas in one person may not cause gas in someone else, depending on how well individuals digest carbohydrates and the type of bacteria present in the intestines. Some foods that may cause gas include - beans - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus - fruits such as pears, apples, and peaches - whole grains such as whole wheat and bran - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high-fructose corn syrup, a sweetener made from corn - milk and milk products such as cheese, ice cream, and yogurt - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, a sugar found in milk and foods made with milk - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol
Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by changes (mutations) in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications. There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page.
Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. Researchers believe that many people with this condition are not diagnosed, however, so the true prevalence may be closer to 1 in 15,000 individuals.
These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4A - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 5 - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8 - Genetic Testing Registry: Congenital ichthyosis of skin 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 with autoimmune hepatitis and cirrhosis are at risk of developing liver cancer. A health care provider will monitor the person with a regular ultrasound examination of the liver. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; anesthesia is not needed. The images can show the liver's size and the presence of cancerous tumors.
Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. Binding of the NGF protein to its receptor transmits signals to the cell to grow and to mature and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGF signaling plays a role in pain sensation. Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain.
Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13-14; death is usually due to heart attack or stroke. Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent. Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.
A vaccine does exist for KFD and is used in endemic areas of India. Additional preventative measures include insect repellents and wearing protective clothing in areas where ticks are endemic.
Phosphoglycerate mutase deficiency is a rare condition; about 15 affected people have been reported in the medical literature. Most affected individuals have been African American.
Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome.
These resources address the diagnosis or management of Lenz microphthalmia syndrome: - Gene Review: Gene Review: Lenz Microphthalmia Syndrome - Genetic Testing Registry: Lenz microphthalmia 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
Birds, just like people, get the flu. Bird flu viruses infect birds, including chickens, other poultry, and wild birds such as ducks. Most bird flu viruses can only infect other birds. However, bird flu can pose health risks to people. The first case of a bird flu virus infecting a person directly, H5N1, was in Hong Kong in 1997. Since then, the bird flu virus has spread to birds in countries in Asia, Africa, the Middle East, and Europe. Human infection is still very rare, but the virus that causes the infection in birds might change, or mutate, to more easily infect humans. This could lead to a pandemic, a worldwide outbreak of the illness. During an outbreak of bird flu, people who have contact with infected birds can become sick. It may also be possible to catch bird flu by eating poultry or eggs that are not well cooked or through contact with a person who has it. Bird flu can make people very sick or even cause death. Antiviral medicines may make the illness less severe, and may help prevent the flu in people who were exposed to it. There is currently no vaccine.
This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
The lymphatic system is a network of tissues and organs. It is made up of - Lymph - a fluid that contains white blood cells that defend against germs - Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. - Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.
Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.
Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.
16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
The Parkinsons Disease Biomarkers Identification Network, or PD-BIN, is an initiative developed by the National Institute of Neurological Disorders and Stroke to discover and validate biomarkers for Parkinsons disease. Biomarkers are measurable characteristics that can reveal whether the disease is developing or progressing. Biomarkers could help doctors detect Parkinsons disease before symptoms appear and improve diagnosis of the disorder.
Gum disease is an infection of the tissues that hold your teeth in place. In its early stages, it is usually painless, and many people are not aware that they have it. But in more advanced stages, gum disease can lead to sore or bleeding gums, painful chewing problems, and even tooth loss.
When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, females with one altered copy of the CYBB gene have mild symptoms of chronic granulomatous disease, such as an increased frequency of bacterial or fungal infections. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the 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. Men and women are affected by autosomal recessive conditions equally.
Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.
These resources address the diagnosis or management of Leigh syndrome: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Nuclear Gene-Encoded Leigh Syndrome Overview - Genetic Testing Registry: Leigh Syndrome (mtDNA mutation) - Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) - Genetic Testing Registry: Leigh syndrome - Genetic Testing Registry: Leigh syndrome, French Canadian type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old. Signs and symptoms of intrahepatic cholangiocarcinoma include jaundice, abdominal pain, fever, weight loss, weakness and itching. Treatment options may include surgery to remove the bile duct and parts of the liver, chemotherapy and radiation.
Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. Normally the skull expands uniformly to accommodate the growth of the brain; premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in a misshapen skull but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked or caused by metabolic diseases (such as rickets )or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.
A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care providers office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.
Stve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence is unknown.
What are the signs and symptoms of hypothalamic dysfunction? The signs and symptoms of hypothalamic dysfunction may vary from person to person depending on the specific hormones missing. You can read more by visiting the following link from MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001202.htm
Your eyes can get infections from bacteria, fungi, or viruses. Eye infections can occur in different parts of the eye and can affect just one eye or both. Two common eye infections are - Conjunctivitis - also known as pinkeye. Conjunctivitis is often due to an infection. Children frequently get it, and it is very contagious. - Stye - a bump on the eyelid that happens when bacteria from your skin get into the hair follicle of an eyelash. Symptoms of eye infections may include redness, itching, swelling, discharge, pain, or problems with vision. Treatment depends on the cause of the infection and may include compresses, eye drops, creams, or antibiotics.
15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features. In about 75 percent of cases, individuals with 15q13.3 microdeletion inherit the chromosomal change from a parent. In the remaining cases, 15q13.3 microdeletion occurs in people whose parents do not carry the chromosomal change. In these individuals, the deletion occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development.
Mutations in the LIPA gene cause cholesteryl ester storage disease. The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and triglycerides. In the body, cholesterol works with high-density lipoproteins (HDL), often referred to as "good cholesterol." High-density lipoproteins carry cholesterol from the body's tissues to the liver for removal. When the cholesterol is attached to a fatty acid it is a cholesteryl ester. Normally, cholesteryl esters are broken down by lysosomal acid lipase into cholesterol and a fatty acid. Then the cholesterol can be transported by HDL to the liver for removal. Mutations in the LIPA gene lead to a shortage of lysosomal acid lipase and prevent the body from using lipids properly. Without the activity of lysosomal acid lipase, the cholesteryl esters stay in the blood and tissues and are not able to be transported to the liver for excretion. The resulting buildup of triglycerides, cholesteryl esters, and other fats within the cells and tissues cause the signs and symptoms of cholesteryl ester storage disease.
Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide. Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.
The prognosis depends on the specific subtype of congenital myasthenia, the muscles involved, and the age at onset of symptoms. If a child has difficulty breathing, feeding, or swallowing, they may be vulnerable to pneumonia or respiratory failure. In other cases, weakness is stable and does not worsen over time. In one subtype, weakness improves with time. Life-span is normal in most cases in which respiratory function is not compromised.
Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility. Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found. There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies. NIH: National Institute of Child Health and Human Development
What treatment is available for desmoplastic infantile gangliomas? Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not documented for all cases reported in the medical literature. Adjuvant therapy is generally not performed when a gross total resection can be performed. When total resection is not possible, some of suggested chemotherapy, as the effects of radiation on extremely young children may be harmful.
What are the signs and symptoms of Recurrent hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Recurrent hydatidiform mole. 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 genitourinary system - Autosomal recessive 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.
Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. Because the embryo does not form or is malformed in molar pregnancies, and because there is a small risk of developing a cancer called choriocarcinoma, a D&C is usually performed.
The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling is caused by fluid build-up in the body. Fluid buildup can lead to weight gain and frequent urination, as well as coughing.
Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems. Children born with autosomal recessive PKD often develop kidney failure before reaching adulthood. Liver scarring occurs in all people with autosomal recessive PKD and is usually present at birth. However, liver problems tend to become more of a concern as people with autosomal recessive PKD grow older. Liver scarring can lead to progressive liver dysfunction and other problems. Additional complications of autosomal recessive PKD include high blood pressure and UTIs.
Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.
Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role of cyclosporine alone has been investigated. These treatments may be administered for a long period of time to prevent recurrences. A serious complication of serpiginous choroiditis is choroidal neovascularization. Laser photocoagulation or surgery may be helpful in some of these cases.
How might Stargardt disease be treated? At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA). You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.
Certain factors affect treatment options and prognosis (chance of recovery). Treatment options depend on: - The stage of the disease. - Red blood cell, white blood cell, and platelet blood counts. - Whether there are signs or symptoms, such as fever, chills, or weight loss. - Whether the liver, spleen, or lymph nodes are larger than normal. - The response to initial treatment. - Whether the CLL has recurred (come back). The prognosis (chance of recovery) depends on: - Whether there is a change in the DNA and the type of change, if there is one. - Whether lymphocytes are spread throughout the bone marrow. - The stage of the disease. - Whether the CLL gets better with treatment or has recurred (come back). - Whether the CLL progresses to lymphoma or prolymphocytic leukemia. - The patient's general health.
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also occur in older children. Individuals with HSES have extremely high body temperatures and multiple organ failures. This condition often causes long term neurological problems or death. The cause of the HSES is unknown.hs
The standard method for diagnosing active infection is the identification of microfilariae in a blood smear by microscopic examination. The microfilariae that cause lymphatic filariasis circulate in the blood at night (called nocturnal periodicity). Blood collection should be done at night to coincide with the appearance of the microfilariae, and a thick smear should be made and stained with Giemsa or hematoxylin and eosin. For increased sensitivity, concentration techniques can be used. Serologic techniques provide an alternative to microscopic detection of microfilariae for the diagnosis of lymphatic filariasis. Patients with active filarial infection typically have elevated levels of antifilarial IgG4 in the blood and these can be detected using routine assays. Because lymphedema may develop many years after infection, lab tests are most likely to be negative with these patients.
How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usually tried first to alleviate symptoms. These changes may include a reduced-fat diet, eliminating foods that contain caffeine and lactose, and avoiding over-the-counter pain relievers such as ibuprofen or aspirin. If these changes alone are not enough, medications can be used to help control symptoms. However, the response rate to various types of medication reportedly varies. Prescription anti-inflammatory medications such as mesalamine and sulfasalazine may help reduce swelling. Steroids including budesonide and prednisone can be used reduce inflammation, but they are usually only used to control sudden attacks of diarrhea. Long-term use of steroids is typically avoided because of unwanted side effects. Anti-diarrheal medications such as bismuth subsalicylate, diphenoxylate with atropine, and loperamide can offer short-term relief. Immunosuppressive agents such as azathioprine help to reduce inflammation but are rarely needed. In extreme cases where the condition does not respond to medications, surgery to remove all or part of the colon may be necessary. However, surgery is rarely recommended.
These resources address the diagnosis or management of adolescent idiopathic scoliosis: - Genetic Testing Registry: Scoliosis, idiopathic 1 - Genetic Testing Registry: Scoliosis, idiopathic 2 - Genetic Testing Registry: Scoliosis, idiopathic 3 - National Scoliosis Foundation: FAQs - Scoliosis Research Society: Find A Specialist - Scoliosis Research Society: For Adolescents 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 progressive familial intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2 - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 3 - Genetic Testing Registry: Progressive intrahepatic cholestasis - MedlinePlus Encyclopedia: Cholestasis - MedlinePlus Encyclopedia: Hepatocellular Carcinoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mutations in the NLRP3 gene (also known as CIAS1) cause Muckle-Wells syndrome. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process. Researchers believe that NLRP3 gene mutations that cause Muckle-Wells syndrome result in a hyperactive cryopyrin protein and an inappropriate inflammatory response. Impairment of the body's mechanisms for controlling inflammation results in the episodes of fever and damage to the body's cells and tissues seen in Muckle-Wells syndrome.
It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.
Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).
These resources address the diagnosis or management of congenital afibrinogenemia: - Genetic Testing Registry: Hereditary factor I deficiency 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
Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints. AS is more common and more severe in men. It often runs in families. The cause is unknown, but it is likely that both genes and factors in the environment play a role. Early symptoms of AS include back pain and stiffness. These problems often start in late adolescence or early adulthood. Over time, AS can fuse your vertebrae together, limiting movement. Some people have symptoms that come and go. Others have severe, ongoing pain. A diagnosis of AS is based on your medical history and a physical examination. You may also have imaging or blood tests. AS has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. Eating a healthy diet, not smoking, and exercising can also help. In rare cases, you may need surgery to straighten the spine. NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease
Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children. Between 5 and 10 percent of people with Jacobsen syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from chromosome 11 has traded places with a segment from another chromosome. In a balanced translocation, no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with some missing genetic material and some extra genetic material. Individuals with Jacobsen syndrome who inherit an unbalanced translocation are missing genetic material from the end of the long arm of chromosome 11 and have extra genetic material from another chromosome. These chromosomal changes result in the health problems characteristic of this disorder.
These resources address the diagnosis or management of X-linked chondrodysplasia punctata 2: - Gene Review: Gene Review: Chondrodysplasia Punctata 2, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 2 X-linked dominant 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
Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.
What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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) Distichiasis 90% Photophobia 50% Absent lower eyelashes - Autosomal dominant inheritance - Hypoplasia of the lower eyelids - 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.
Summary : Anatomy is the science that studies the structure of the body. On this page, you'll find links to descriptions and pictures of the human body's parts and organ systems from head to toe.
Certain genetic changes may increase the risk of atypical teratoid/rhabdoid tumor. Anything that increases the 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 doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Atypical teratoid/rhabdoid tumor may be linked to changes in the tumor suppressor genes SMARCB1 or SMARCA4. Genes of this type make a protein that helps control cell growth. Changes in the DNA of tumor suppressor genes like SMARCB1 or SMARCA4 may lead to cancer. Changes in the SMARCB1 or SMARCA4 genes may be inherited (passed on from parents to offspring). When this gene change is inherited, tumors may form in two parts of the body at the same time (for example, in the brain and the kidney). For patients with AT/RT, genetic counseling (a discussion with a trained professional about inherited diseases and a possible need for gene testing) may be recommended.
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.
These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and 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
If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can cause problems with other body functions, such as your kidneys, nerves, feet, and eyes. Having diabetes can also put you at a higher risk for heart disease and bone and joint disorders. Other long-term complications of diabetes include skin problems, digestive problems, sexual dysfunction, and problems with your teeth and gums. Very high or very low blood sugar levels can also lead to emergencies in people with diabetes. The cause can be an underlying infection, certain medicines, or even the medicines you take to control your diabetes. If you feel nauseated, sluggish or shaky, seek emergency care. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What are the symptoms of sideroblastic anemia? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales.
Everyone feels tired now and then. Sometimes you may just want to stay in bed. But, after a good night's sleep, most people feel refreshed and ready to face a new day. If you continue to feel tired for weeks, it's time to see your doctor. He or she may be able to help you find out what's causing your fatigue and recommend ways to relieve it. Fatigue itself is not a disease. Medical problems, treatments, and personal habits can add to fatigue. These include - Taking certain medicines, such as antidepressants, antihistamines, and medicines for nausea and pain - Having medical treatments, like chemotherapy and radiation - Recovering from major surgery - Anxiety, stress, or depression - Staying up too late - Drinking too much alcohol or too many caffeinated drinks - Pregnancy One disorder that causes extreme fatigue is chronic fatigue syndrome (CFS). This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. NIH: National Institute on Aging
The NINDS supports and conducts an extensive research program on demyelinating disorders such as Schilder's disease. Much of this research focuses on learning more about these disorders and finding ways to prevent, treat, and cure them.
Summary : A medical device is any product used to diagnose, cure, or treat a condition, or to prevent disease. They range from small and simple, like a blood glucose meter, to large and complicated, like a ventilator. You might use one at home or at work, or you may need one in a hospital. To use medical devices safely - Know how your device works. Keep instructions close by - Understand and properly respond to device alarms - Have a back-up plan and supplies in the event of an emergency - Keep emergency numbers available and update them as needed - Educate your family and caregivers about your device Food and Drug Administration
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect. The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease and causes more severe muscle stiffness, particularly in males. People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. This muscle weakness is not seen in people with Thomsen disease.
"DASH" stands for "Dietary Approaches to Stop Hypertension." This is the name of a clinical study that tested the effects of nutrients in food on blood pressure. Study results indicated that you can reduce high blood pressure by following an eating plan that emphasizes fruits, vegetables, and fat-free or low-fat milk and milk products, and that is low in saturated fat, cholesterol, total fat, and added sugars. The DASH eating plan also includes whole grains, poultry, fish, and nuts, and has reduced amounts of red meats, sweets, added sugars, and beverages containing sugars. A second study, called "DASH-Sodium," showed that eating less salt also lowered blood pressure in people following either the DASH eating plan or the typical American diet. But those following DASH, especially those with high blood pressure, benefited the most. For more information on using the DASH eating plan, see Your Guide to Lowering Your Blood Pressure with DASH.
These resources address the diagnosis or management of pyridoxal 5'-phosphate-dependent epilepsy: - Genetic Testing Registry: Pyridoxal 5'-phosphate-dependent epilepsy - MedlinePlus Encyclopedia: Lactic acidosis 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
Although rodent control would be desirable, it will not be a successful strategy for preventing Chapare hemorrhagic fever cases caused by exposures outdoors. As for other hemorrhagic fevers, full barrier nursing procedures should be implemented during management of suspected or confirmed CHHF cases.
How might cytochrome C oxidase deficiency be treated? There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. The goals of treatment are to improve symptoms and slow progression of the disease; the effectiveness of treatment varies with each individual. Treatment generally does not reverse any damage that has already occurred. Prognosis varies depending on the form of COX deficiency present. Individuals with benign infantile mitochondrial myopathy may experience spontaneous recovery (although early diagnosis and intensive treatment is still needed until this point), while there may be rapid demise in individuals with Leigh syndrome. It is often recommended that individuals with mitochondrial disorders such as COX deficiency avoid fasting. Dehydration due to vomiting or illness may be treated with intravenous fluid if the individual is not able to take fluids orally. Seizures are typically controlled with anticonvulsants. Some affected individuals may benefit from physical, occupational, and speech therapies that are specifically tailored to their needs. Dietary supplements including certain vitamins and cofactors have shown varying degrees of benefit in individual cases. Individuals interested in specific management recommendations for themselves or relatives should speak with their healthcare providers.
These resources address the diagnosis or management of tyrosinemia: - Baby's First Test: Tyrosinemia, Type I - Baby's First Test: Tyrosinemia, Type II - Baby's First Test: Tyrosinemia, Type III - Gene Review: Gene Review: Tyrosinemia Type I - Genetic Testing Registry: 4-Hydroxyphenylpyruvate dioxygenase deficiency - Genetic Testing Registry: Tyrosinemia type 2 - Genetic Testing Registry: Tyrosinemia type I - MedlinePlus Encyclopedia: Aminoaciduria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is Ehlers-Danlos syndrome, dermatosparaxis type inherited? Ehlers-Danlos syndrome, dermatosparaxis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.
These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: Familial restrictive cardiomyopathy 3 - Johns Hopkins Medicine: Cardiomyopathy/Heart Failure - MedlinePlus Encyclopedia: Restrictive Cardiomyopathy 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 alpha thalassemia X-linked intellectual disability syndrome: - Gene Review: Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - Genetic Testing Registry: ATR-X syndrome - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Most individuals with multiple system atrophy with orthostatic hypotension die within 7 to 10 years after the onset of symptoms. A problem with the respiratory system is the most common cause of death.
Diverticular* disease affects the colon. The colon is part of the large intestine that removes waste from your body. Diverticular disease is made up of two conditions: diverticulosis and diverticulitis. Diverticulosis occurs when pouches, called diverticula, form in the colon. These pouches bulge out like weak spots in a tire. Diverticulitis occurs if the pouches become inflamed. *See the Pronunciation Guide for tips on how to say the words in bold type.
Summary : It's important to take care of your mouth and teeth starting in childhood. If you don't, you could have problems with your teeth and gums - like cavities or even tooth loss. Here's how to keep your mouth and teeth healthy: - 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 - Don't smoke or chew tobacco - See your dentist or oral health professional regularly NIH: National Institute of Dental and Craniofacial Research
Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. Approximately 10% of affected people have the "non-epileptic" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. GLUT1 deficiency syndrome is caused by changes (mutations) in the SLC2A1 gene and is inherited in an autosomal dominant manner. Although there is currently no cure for GLUT1 deficiency syndrome, a special diet (called a ketogenic diet) may help alleviate symptoms.
Several types of surgery are available for someone with colorectal cancer. If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube up the rectum into the colon and cut the cancer out. This is called a local excision. If the cancer is found in a polyp, which is a small bulging piece of tissue, the operation is called a polypectomy. If the cancer is larger, the surgeon will remove the cancer and a small amount of healthy tissue around it. This is called a colectomy. The surgeon may then sew the healthy parts of the colon together. Usually, the surgeon will also remove lymph nodes near the colon and examine them under a microscope to see whether they contain cancer. If the doctor is not able to sew the two ends of the colon back together, an opening called a stoma is made on the abdomen for waste to pass out of the body before it reaches the rectum. This procedure is called a colostomy. Sometimes the colostomy is needed only until the lower colon has healed, and then it can be reversed. But if the doctor needs to remove the entire lower colon, the colostomy may be permanent.
Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect only one area of the brain, a region called the frontal lobe. In many cases, the seizures are complex and resistant to treatment with anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes. Most people with ring chromosome 20 syndrome also have some degree of intellectual disability and behavioral difficulties. Although these problems can appear either before or after the onset of epilepsy, they tend to worsen after seizures develop. Additional features of this condition can include slow growth and short stature, a small head (microcephaly), and subtle differences in facial features. Major birth defects are rarely seen with ring chromosome 20 syndrome.
The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder. The NINDS is a member of the Muscular Dystrophy Coordinating Committee (MDCC). For additional information, please visit: http://www.ninds.nih.gov/about_ninds/groups/mdcc/
These resources address the diagnosis or management of CCFDN: - Gene Review: Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - Genetic Testing Registry: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Dislocations are joint injuries that force the ends of your bones out of position. The cause is often a fall or a blow, sometimes from playing a contact sport. You can dislocate your ankles, knees, shoulders, hips, elbows and jaw. You can also dislocate your finger and toe joints. Dislocated joints often are swollen, very painful and visibly out of place. You may not be able to move it. A dislocated joint is an emergency. If you have one, seek medical attention. Treatment depends on which joint you dislocate and the severity of the injury. It might include manipulations to reposition your bones, medicine, a splint or sling, and rehabilitation. When properly repositioned, a joint will usually function and move normally again in a few weeks. Once you dislocate a shoulder or kneecap, you are more likely to dislocate it again. Wearing protective gear during sports may help prevent dislocations.
The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people with this disorder have been reported.
Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Causes of encephalitis and meningitis include viruses, bacteria, fungus, and parasites. Anyone can get encephalitis or meningitis.Inflammation from encephalitis and meningitis produce a wide range of symptoms. Symptoms of encephalitis include sudden fever, headache, vomiting, heightened sensitivity to light, stiff neck and back, confusion and impaired judgment, drowsiness, weak muscles, a clumsy and unsteady gait, and irritability. In more severe cases, people may have problems with speech or hearing, vision problems, and hallucinations. Symptoms that might require emergency treatment include loss of consciousness, seizures, muscle weakness, or sudden severe dementia. Symptoms of meningitis, which may appear suddenly, often include high fever, severe and persistent headache, stiff neck, nausea, sensitivity to bright light, and vomiting. Changes in behavior such as confusion, sleepiness, and difficulty waking up may also occur. In infants, symptoms of meningitis or encephalitis may include fever, vomiting, lethargy, body stiffness, unexplained irritability, and a full or bulging fontanel (the soft spot on the top of the head). Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately.
Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. No one knows exactly what causes acne. Hormone changes, such as those during the teenage years and pregnancy, probably play a role. There are many myths about what causes acne. Chocolate and greasy foods are often blamed, but there is little evidence that foods have much effect on acne in most people. Another common myth is that dirty skin causes acne; however, blackheads and pimples are not caused by dirt. Stress doesn't cause acne, but stress can make it worse. If you have acne - Clean your skin gently - Try not to touch your skin - Avoid the sun Treatments for acne include medicines and creams. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders. Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms.
Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).
Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Surgery can stop infections and prevent complications.