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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA.
Retinoblastoma is diagnosed in 250 to 350 children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years.
A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0.5 to 1 percent of people with replacement joints develop a PJI. Infections can occur early in the course of recovery from joint replacement surgery (within the first two months) or much later. Signs and symptoms of PJI include fever, chills, drainage from the surgical site, and increasing redness, tenderness, swelling and pain of the affected joint. Prosthetic joint infections are often hard to treat because of the development of a structure called a biofilm within the joint. A biofilm develops when bacteria adhere to the solid surface of the artificial joint. The biofilm can act as a kind of shield to some of the bacteria, making it difficult for the bacteria to be found and destroyed by the body's defenses or by antibiotic medications. An infected joint replacement usually requires surgery to remove the artificial parts and potent antibiotics to kill the bacteria.
Treatment may include such medications as baclofen, diazepam, tizanidine or clonazepam. Physical therapy regimens may include muscle stretching and range of motion exercises to help prevent shrinkage or shortening of muscles and to reduce the severity of symptoms. Targeted injection of botulinum toxin into muscles with the most tome can help to selectively weaken these muscles to improve range of motion and function. Surgery may be recommended for tendon release or to sever the nerve-muscle pathway.
How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.
Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. All of the COL2A1 mutations that have been found to cause platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the protein called the C-propeptide domain. These mutations interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the skeletal abnormalities characteristic of platyspondylic lethal skeletal dysplasia, Torrance type.
Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. When something goes wrong in this system, it can cause serious problems, including - Blood pressure problems - Heart problems - Trouble with breathing and swallowing - Erectile dysfunction in men Autonomic nervous system disorders can occur alone or as the result of another disease, such as Parkinson's disease, alcoholism and diabetes. Problems can affect either part of the system, as in complex regional pain syndromes, or all of the system. Some types are temporary, but many worsen over time. When they affect your breathing or heart function, these disorders can be life-threatening. Some autonomic nervous system disorders get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms. NIH: National Institute of Neurological Disorders and Stroke
Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors.
Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. Researchers believe that this abnormal cell death leads to the signs and symptoms of incontinentia pigmenti.
Von Willebrand disease is estimated to affect 1 in 100 to 10,000 individuals. Because people with mild signs and symptoms may not come to medical attention, it is thought that this condition is underdiagnosed. Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder.
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.
What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States.
These resources address the diagnosis or management of GM3 synthase deficiency: - American Epilepsy Society: Find a Doctor - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Amish infantile epilepsy 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
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.
Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Other factors can raise the risk of abnormal blood clots in people with mild protein S deficiency. These factors include increasing age, surgery, immobility, or pregnancy. The combination of protein S deficiency and other inherited disorders of blood clotting can also influence risk. Many people with mild protein S deficiency never develop an abnormal blood clot, however. In severe cases of protein S deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots within small blood vessels throughout the body. These blood clots disrupt normal blood flow and can lead to death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body and is often noticeable as large, purple skin lesions. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.
These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase 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 MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.
Carcinoid syndrome refers to a group of symptoms that are associated with carcinoid tumors (rare, slow-growing tumors that occur most frequently in the gastroinestinal tract or lungs). Affected people may experience skin flushing, abdominal pain, diarrhea, difficulty breathing, rapid heart rate, low blood pressure, skin lesions on the face (telangiectasias), and wheezing. In later stages, carcinoid syndrome may damage the heart valves, resulting in symptoms of congestive heart failure. The condition occurs when the carcinoid tumor secretes serotonin or other chemicals into the bloodstream. Only 10% of people with carcinoid tumors develop carcinoid syndrome; most have advanced stage carcinoid tumors that have spread to the liver. Treatment generally involves addressing the underlying carcinoid tumor and medications to alleviate symptoms.
Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. When MPS IV is caused by mutations in the GALNS gene it is called MPS IV type A (MPS IVA), and when it is caused by mutations in the GLB1 gene it is called MPS IV type B (MPS IVB). In general, the two types of MPS IV cannot be distinguished by their signs and symptoms. Mutations in the GALNS and GLB1 genes reduce or completely eliminate the activity of the enzymes produced from these genes. Without these enzymes, GAGs accumulate within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that break down and recycle different types of molecules. Conditions such as MPS IV that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. In MPS IV, GAGs accumulate to toxic levels in many tissues and organs, particularly in the bones. The accumulation of GAGs causes the bone deformities in this disorder. Researchers believe that the buildup of GAGs may also cause the features of MPS IV by interfering with the functions of other proteins inside lysosomes and disrupting the movement of molecules inside the cell.
Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence.
Mucoepidermoid carcinoma is a type of cancer of the salivary glands. Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas. Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming a cluster of cells (a mass or lump). The earliest signs of a mucoepidermoid carcinoma may include a lump in the face, neck, or mouth; numbness, weakness, or pain in part of the face; or difficulty swallowing. Treatment often begins with surgery to remove the entire tumor. In some cases, radiation therapy and/or chemotherapy may be used after surgery to ensure that no cancer cells remain in the body.
Congenital NCL is the rarest type of NCL; approximately 10 cases have been described.
A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins. All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.
Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. In cases where there is a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are symptomatic and supportive.
How is branchiooculofacial syndrome (BOFS) inherited? Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition.
Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns.
What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. 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 pleura 90% Autosomal dominant inheritance - Incomplete penetrance - Spontaneous pneumothorax - 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.
How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success.
Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s. Life expectancy is normal. Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.
Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF1 gene and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF1 gene must be altered to trigger tumor formation in neurofibromatosis type 1. A mutation in the second copy of the NF1 gene occurs during a person's lifetime in specialized cells surrounding nerves. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene. Treatment for FMF often involves use of a medication called colchicine.
Fascioliasis is an infectious disease caused by Fasciola parasites, which are flat worms referred to as liver flukes. The adult (mature) flukes are found in the bile ducts and liver of infected people and animals, such as sheep and cattle. In general, fascioliasis is more common in livestock and other animals than in people. Two Fasciola species (types) infect people. The main species is Fasciola hepatica, which is also known as "the common liver fluke" and "the sheep liver fluke." A related species, Fasciola gigantica, also can infect people.
What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an individual's risk of developing this complex condition.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The size of the tumor. - Whether there are B symptoms at diagnosis. - The type of Hodgkin lymphoma. - Certain features of the cancer cells. - Whether there are too many white blood cells or too few red blood cells at the time of diagnosis. - How well the tumor responds to initial treatment with chemotherapy. - Whether the cancer is newly diagnosed or has recurred (come back). The treatment options also depend on: - The child's age and gender. - The risk of long-term side effects. Most children and adolescents with newly diagnosed Hodgkin lymphoma can be cured.
These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome: - Genetic Testing Registry: Laryngoonychocutaneous 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
MRKH syndrome affects approximately 1 in 4,500 newborn girls.
There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.
COG5-CDG is a very rare disorder; fewer than 10 cases have been described in the medical literature.
Yes. Other medications available to treat some symptoms and stages of Parkinson's disease include direct dopamine agonists, MAO-B inhibitors, COMT inhibitors, an anti-viral drug, and anticholinergics. Direct dopamine agonists are drugs that mimic the role of dopamine in the brain. They can be used in the early stages of the disease, or later on to give a more prolonged and steady dopaminergic effect in people who experience "wearing off" or "on-off" effects from taking the drug. Dopamine agonists are generally less effective than levodopa in controlling rigidity and bradykinesia. They can cause confusion in older adults. MAO-B inhibitors are another class of drugs that can reduce the symptoms of Parkinson's by causing dopamine to build up in surviving nerve cells. COMT inhibitors prolong the effects of levodopa by preventing the breakdown of dopamine. COMT inhibitors can usually make it possible to reduce a person's dose of levodopa. Amantadine, an old antiviral drug, can help reduce Parkinson's symptoms in the early stages of the disease, and again in later stages to treat dyskinesias. Anticholinergics can help reduce tremors and muscle rigidity.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the type of tumor and whether the tumor has spread into other areas of the central nervous system (brain and spinal cord) or outside of the central nervous system to other parts of the body. Treatment options depend on the following: - The type and size of the tumor. - Whether the tumor is making hormones. - Whether the tumor is causing problems with vision or other signs or symptoms. - Whether the tumor has spread into the brain around the pituitary gland or to other parts of the body. - Whether the tumor has just been diagnosed or has recurred (come back).
Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide.
CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. Both the RYR2 and CASQ2 proteins are involved in handling calcium within myocytes, which is critical for the regular contraction of these cells. Mutations in either the RYR2 or CASQ2 gene disrupt the handling of calcium within myocytes. During exercise or emotional stress, impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.
One way to prevent taeniasis is to cook meat to safe temperatures. A food thermometer should be used to measure the internal temperature of cooked meat. Do not sample meat until it is cooked. USDA recommends the following for meat preparation. - For Whole Cuts of Meat (excluding poultry) - Cook to at least 145° F (63° C) as measured with a food thermometer placed in the thickest part of the meat, then allow the meat to rest* for three minutes before carving or consuming. - For Ground Meat (excluding poultry) - Cook to at least 160° F (71° C); ground meats do not require a rest* time. *According to USDA, "A 'rest time' is the amount of time the product remains at the final temperature, after it has been removed from a grill, oven, or other heat source. During the three minutes after meat is removed from the heat source, its temperature remains constant or continues to rise, which destroys pathogens." More on: Fight BAC: Safe Food Handling
Some diseases and conditions can disrupt the body's normal blood clotting process and lead to disseminated intravascular coagulation (DIC). These diseases and conditions include: Sepsis (an infection in the bloodstream) Surgery and trauma Cancer Serious complications of pregnancy and childbirth Examples of less common causes of DIC are bites from poisonous snakes (such as rattlesnakes and other vipers), frostbite, and burns. The two types of DIC are acute and chronic. Acute DIC begins with clotting in the small blood vessels and quickly leads to serious bleeding. Chronic DIC causes blood clotting, but it usually doesn't lead to bleeding. Cancer is the most common cause of chronic DIC. Similar Clotting Conditions Two other conditions cause blood clotting in the small blood vessels. However, their causes and treatments differ from those of DIC. These conditions are thrombotic thrombocytopenic purpura (throm-BOT-ik throm-bo-cy-toe-PEE-nick PURR-purr-ah), or TTP, and hemolytic-uremic syndrome (HUS). HUS is more common in children than adults. It's also more likely to cause kidney damage than TTP.
Tests that examine the vulva are used to detect (find) and diagnose vulvar cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking the vulva for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Biopsy : The removal of samples of cells or tissues from the vulva so they can be viewed under a microscope by a pathologist to check for signs of cancer.
Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.
In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males.
Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is known a sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. A hydatidiform mole often causes vaginal bleeding in the first trimester of the pregnancy. In an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. In some cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a fluid-filled sac that normally surrounds the fetus). Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind (persistent mole) will continue to grow and become a cancerous tumor called an invasive mole. The invasive mole can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.
Smoking contributes to many common disorders of the digestive system, such as heartburn and gastroesophageal reflux disease (GERD), peptic ulcers, and some liver diseases. Smoking increases the risk of Crohns disease, colon polyps, and pancreatitis, and it may increase the risk of gallstones.
How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.
Most individuals with NMO have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of the central nervous system. Some individuals are severely affected by NMO and can lose vision in both eyes and the use of their arms and legs. Most individuals experience some degree of permanent limb weakness or vision loss from NMO. However, reducing the number of attacks with immunosuppressive medications may help prevent with accumulation of disability. Rarely, muscle weakness can be severe enough to cause breathing difficulties and may require the use of artificial ventilation.
Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder.
Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Neurological symptoms include difficulties with memory and neuromuscular disorders.
Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. However, no specific provoking antigens or other predisposing factors for CIDP have been identified. In several case reports, treatment with tumor necrosis factor-alpha inhibitors has been associated with the subsequent development of chronic demyelinating neuropathies.
2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder; its actual incidence is unknown. This disorder is more common, however, among Hmong populations in southeast Asia and in Hmong Americans. 2-methylbutyryl-CoA dehydrogenase deficiency occurs in 1 in 250 to 1 in 500 people of Hmong ancestry.
Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules. Connexin 30 is found in several different tissues throughout the body, including the skin (especially on the palms of the hands and soles of the feet), hair follicles, and nail beds, and plays a role in the growth and development of these tissues. GJB6 gene mutations that cause Clouston syndrome change single protein building blocks (amino acids) in the connexin 30 protein. Although the effects of these mutations are not fully understood, they lead to abnormalities in the growth, division, and maturation of cells in the hair follicles, nails, and skin.
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss. People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term "supravalvular" means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen.
- Gas is air in the digestive tract. - Everyone has gas. However, many people think they pass gas too often and that they have too much gas. Having too much gas is rare. - Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. - 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 for someone else. - The most common symptoms of gas are burping, passing gas, bloating, and abdominal pain or discomfort. - Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications.
Early intervention including appropriate and specialized educational programs and support services plays a critical role in improving the outcome of individuals with PDD. PDD is not fatal and does not affect normal life expectancy.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. The NINDS conducts and supports research to better understand conditions that affect the protective myelin coating around nerve fibers and ways to prevent and treat the destruction of myelin. Scientists hope to develop drugs that can prevent brain cells from dying or help them produce new myelin. Research funded by the NIH's National Institute of Diabetes and Digestive and Kidney Diseases aims to understand the biological mechanisms involved in water balance in the body.
Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function. The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, and eyes and problems with hearing. Types I and III Waardenburg syndrome are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II Waardenburg syndrome. Mutations in the SOX10, EDN3, or EDNRB genes cause type IV Waardenburg syndrome. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in any of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.
What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. 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 eye - Autosomal dominant inheritance - Genu valgum - Platyspondyly - Spondyloepiphyseal dysplasia - 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.
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older.
Renal insufficiency, or the inability of the kidneys to eliminate waste products, is a common cause of gout in older people. Here are other medical problems that contribute to high blood levels of uric acid and can put people at risk for gout. - high blood pressure - hypothyroidism (underactive thyroid gland) - conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers - Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities. high blood pressure hypothyroidism (underactive thyroid gland) conditions that cause an excessively rapid turnover of cells, such as psoriasis, hemolytic anemia, or some cancers Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities.
Peritoneal dialysis is a treatment for kidney failure that uses the lining of your abdomen, or belly, to filter your blood inside your body. Doctors call this lining the peritoneum. A doctor will place a soft tube, called a catheter, in your belly a few weeks before you start treatment. When you start peritoneal dialysis, dialysis solutionwater with salt and other additivesflows from a bag through the catheter into your belly. When the bag is empty, you can disconnect your catheter from the bag and cap it so you can move around and do your normal activities. While the dialysis solution is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the used dialysis solution into a drain bag. You can then dispose of the used dialysis solution, which is now full of wastes and extra fluid, in a toilet or down the drain of a sink or bathtub. Then you start over with a fresh bag of dialysis solution. The process of first draining the used dialysis solution and then replacing it with fresh solution is called an exchange. Most people do four to six exchanges every day, or during the night using a machine that moves the fluid in and out. The process goes on continuously, so you always have dialysis solution in your belly soaking up wastes and extra fluid from your body. For the best results from peritoneal dialysis, it is important that you perform all of your exchanges as your doctor instructs.
What treatment is available for pigmented purpuric eruption? There is no treatment that has been proven to be beneficial for people with pigmented purpuric eruption. However, some treatments have been reported to improve this condition, including pentoxifylline, aminaphtone, and photochemotherapy (PUVA).
The pituitary gland, sometimes called the master gland, plays a critical role in regulating growth and development, metabolism, and reproduction. It produces prolactin and other key hormones including - growth hormone, which regulates growth - adrenocorticotropin (ACTH), which stimulates the adrenal glands to produce cortisol, a hormone important in metabolism and the body's response to stress - thyrotropin, which signals the thyroid gland to produce thyroid hormone, also involved in metabolism and growth - luteinizing hormone and follicle-stimulating hormone, which regulate ovulation and estrogen and progesterone production in women and sperm formation and testosterone production in men The pituitary gland sits in the middle of the head in a bony box called the sella turcica. The optic nerves sit directly above the pituitary gland. Enlargement of the gland can cause symptoms such as headaches or visual disturbances. Pituitary tumors may also impair production of one or more pituitary hormones, causing reduced pituitary function, also called hypopituitarism.
Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may be present at any one time. Patients with this condition often have exacerbations and relapses of the condition, which can last for months or years.
Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.
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.
Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.
In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.
The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.
The prevalence of this condition is unknown, although one study estimated that it may affect 1 in 250,000 people. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes.
There is no standard protocol to treat FMD. Any treatment to improve blood flow is based on the arteries affected and the progression and severity of the disease. The carotid arteries should be tested if FMD is found elsewhere in the body since carotid involvement is linked to an increased risk of stroke. Patients with minimal narrowing may take a daily antiplatelet such as an aspirin or an anticoagulant to thin the blood and reduce the chances that a clot might form. Medications such as aspirin can also be taken for headache and neck pain, symptoms that can come from FMD. Patients with arterial disease who smoke should be encouraged to quit as smoking worsens the disease. Further treatment may include angioplasty, in which a small balloon is inserted through a catheter and inflated to open the artery. Small tubes called stents may be inserted to keep arteries open. Surgery may be needed to treat aneurysms that have the potential to rupture and cause bleeding within the brain.
Many children wet the bed until they are 5 or even older. A child's bladder might be too small. Or the amount of urine produced overnight can be more than the bladder can hold. Some children sleep too deeply or take longer to learn bladder control. Stress can also be a factor. Children should not be punished for wetting the bed. They don't do it on purpose, and most outgrow it. Call the doctor if your child is 7 years old or older and wets the bed more than two or three times in a week. The doctor will look for and treat any other heath problems that could cause the bedwetting. Bedwetting alarms, bladder training, and medicines might help with the bedwetting. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Summary : Eye wear protects or corrects your vision. Examples are - Sunglasses - Safety goggles - Glasses (also called eyeglasses) - Contact lenses If you need corrective lenses, you may be able to choose between contacts or glasses. Either usually requires a prescription. Almost anyone can wear glasses. Contact lenses require more careful handling. Many jobs and some sports carry a risk of eye injury. Thousands of children and adults get eye injuries every year. Most are preventable with proper eye protection. Everyone is at risk for eye damage from the sun year-round. It's important to regularly use sunglasses that block out at least 99 percent of UV rays.
How might retroperitoneal fibrosis be treated? Treatment of retroperitoneal fibrosis may include: Corticosteroid therapy Tamoxifen Surgery Stents Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. Corticosteroids are then tapered slowly. Some people with retroperitoneal fibrosis may continue on low dose maintenance therapy for up to 2 years. If corticosteroid treatment doesn't work, a biopsy should be done to confirm the diagnosis. Other medicines to suppress the immune system, such as mycophenolate mofetil, methotrexate, azathioprine, cyclophosphamide or tamoxifen can be prescribed alone or in combination with corticosteroids. When medicine does not work, surgery and stents (draining tubes) are considered. Stents (drainage tubes) placed in the ureter or in the renal pelvis may provide short-term relief of the symptoms until the condition is surgically treated. Surgery aims to remove the mass and/or free the ureters.
What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.
LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). By attaching to another protein known as a receptor, the FGF3 protein triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as dividing or maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth. FGF3 gene mutations involved in LAMM syndrome alter the FGF3 protein. The altered protein likely has reduced or absent function and is unable to stimulate signaling. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.
How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to SPS in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. A study using the drug rituximab proved ineffective in treating individuals with the disorder. Current research is focused on understanding the cause of the disease and the role of the anti-GAD antibodies.
N-acetylglutamate synthase deficiency is a very rare disorder. Only a few cases have been reported worldwide, and the overall incidence is unknown.
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form. People with the pure form of spastic paraplegia type 2 experience spasticity in the lower limbs, usually without any additional features. People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Symptoms usually become apparent between the ages of 1 and 5 years; those affected are typically able to walk and have a normal lifespan.
These resources address the diagnosis or management of abdominal wall defect: - Cincinnati Children's Hospital: Gastroschisis - Cincinnati Children's Hospital: Omphalocele - Cleveland Clinic: Omphalocele - Genetic Testing Registry: Congenital omphalocele - Great Ormond Street Hospital for Children (UK): Gastroschisis - MedlinePlus Encyclopedia: Gastroschisis Repair - MedlinePlus Encyclopedia: Gastroschisis Repair--Series (images) - MedlinePlus Encyclopedia: Omphalocele Repair - MedlinePlus Encyclopedia: Omphalocele Repair--Series (images) - Seattle Children's Hospital: Gastroschisis Treatment Options - Seattle Children's Hospital: Omphalocele Treatment Options - The Children's Hospital of Philadelphia: Diagnosis and Treatment of Gastroschisis - The Children's Hospital of Philadelphia: Overview and Treatment of Omphalocele - University of California, San Francisco Fetal Treatment Center: Gastroschisis - University of California, San Francisco Fetal Treatment Center: Omphalocele 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
Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.
The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively found to cause the signs and symptoms of Meige disease.
Summary : In coronary artery disease (CAD), the arteries that supply blood and oxygen to your heart muscle grow hardened and narrowed. You may try treatments such as lifestyle changes, medicines, and angioplasty, a procedure to open the arteries. If these treatments don't help, you may need coronary artery bypass surgery. The surgery creates a new path for blood to flow to the heart. The surgeon takes a healthy piece of vein from the leg or artery from the chest or wrist. Then the surgeon attaches it to the coronary artery, just above and below the narrowed area or blockage. This allows blood to bypass (get around) the blockage. Sometimes people need more than one bypass. The results of the surgery usually are excellent. Many people remain symptom-free for many years. You may need surgery again if blockages form in the grafted arteries or veins or in arteries that weren't blocked before. Lifestyle changes and medicines may help prevent arteries from becoming clogged again. NIH: National Heart, Lung, and Blood Institute
These resources address the diagnosis or management of gyrate atrophy: - Baby's First Test - Genetic Testing Registry: Ornithine aminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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.
Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 people from the Greek islands. Type II (Carvajal syndrome), type III, and type IV have each been identified in only a small number of families worldwide.
Children vary in their development of speech and language skills. Health professionals have milestones for what's normal. These milestones help determine if a child is on track or if he or she may need extra help. For example, a child usually has one or two words like "Hi," "dog," "Dada," or "Mama" by her first birthday. Sometimes a delay may be caused by hearing loss, while other times it may be due to a speech or language disorder. Language disorders can mean that the child has trouble understanding what others say or difficulty sharing her thoughts. Children who have trouble producing speech sounds correctly or who hesitate or stutter when talking may have a speech disorder. If your child's speech or language appears to be delayed, talk to your child's doctor. NIH: National Institute on Deafness and Other Communication Disorders
Women have smaller bones, and they lose bone more rapidly than men because of hormone changes that occur after menopause. Therefore, women are at higher risk for osteoporosis.
These resources address the diagnosis or management of Hashimoto thyroiditis: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Hashimoto thyroiditis - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests 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 genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.