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Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people.
The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.
Cold sores are caused by a contagious virus called herpes simplex virus (HSV). There are two types of HSV. Type 1 usually causes oral herpes, or cold sores. Type 1 herpes virus infects more than half of the U.S. population by the time they reach their 20s. Type 2 usually affects the genital area Some people have no symptoms from the infection. But others develop painful and unsightly cold sores. Cold sores usually occur outside the mouth, on or around the lips. When they are inside the mouth, they are usually on the gums or the roof of the mouth. They are not the same as canker sores, which are not contagious. There is no cure for cold sores. They normally go away on their own in a few weeks. Antiviral medicines can help them heal faster. They can also help to prevent cold sores in people who often get them. Other medicines can help with the pain and discomfort of the sores. These include ointments that numb the blisters, soften the crusts of the sores, or dry them out. Protecting your lips from the sun with sunblock lip balm can also help.
Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. These genes provide instructions for making proteins that are parts (subunits) of a large protein complex known as vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Because acids are substances that can "donate" protons to other molecules, this movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly. The V-ATPase that includes subunits produced from the ATP6V1B1 and ATP6V0A4 genes is found in the inner ear and in nephrons, which are the functional structures within the kidneys. Each nephron consists of two parts: a renal corpuscle (also known as a glomerulus) that filters the blood, and a renal tubule that reabsorbs substances that are needed and eliminates unneeded substances in urine. The V-ATPase is involved in regulating the amount of acid that is removed from the blood into the urine, and also in maintaining the proper pH of the fluid in the inner ear (endolymph). Mutations in the ATP6V1B1 or ATP6V0A4 gene impair the function of the V-ATPase complex and reduce the body's capability to control the pH of the blood and the fluid in the inner ear, resulting in the signs and symptoms of renal tubular acidosis with deafness.
There is no specific treatment for OHF, but supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders. Though rare, OHF can cause hearing loss, hair loss, and behavioral or psychological difficulties associated with neurological conditions and long term supportive case may be needed.
Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services.
PSP gets progressively worse but is not itself directly life-threatening. It does, however, predispose patients to serious complications such as pneumonia secondary to difficulty in swallowing (dysphagia). The most common complications are choking and pneumonia, head injury, and fractures caused by falls. The most common cause of death is pneumonia. With good attention to medical and nutritional needs, however, most PSP patients live well into their 70s and beyond.
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive).
These resources address the diagnosis or management of persistent Mllerian duct syndrome: - Genetic Testing Registry: Persistent Mullerian duct syndrome - MedlinePlus Encyclopedia: Undescended testicle repair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. Other research is exploring the impact of risk factors associated with the development of AD, such as pre-existing problems with blood flow in the blood vessels of the brain. Most importantly, the NINDS supports a number of studies that are developing and testing new and novel therapies that can relieve the symptoms of AD and potentially lead to a cure. On May 15, 2012 the Obama Administration announced the release of the National Alzheimers Plan. U.S. Secretary of Health and Human Services Kathleen Sebelius reaffirmed our nations commitment to conquering Alzheimers disease and related dementias, with a specific goal of finding effective ways to prevent and treat the disease by 2025.
These resources address the diagnosis or management of hereditary sensory neuropathy type IA: - Gene Review: Gene Review: Hereditary Sensory Neuropathy Type IA - Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1 - Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium - The Foundation for Peripheral Neuropathy: Symptoms 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
Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.
What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss.
Most cases of idiopathic inflammatory myopathy are sporadic, which means they occur in people with no history of the disorder in their family. However, several people with idiopathic inflammatory myopathy have had close relatives with autoimmune disorders. Autoimmune diseases occur when the immune system malfunctions and attacks the body's tissues and organs. A small percentage of all cases of idiopathic inflammatory myopathy have been reported to run in families; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with idiopathic inflammatory myopathy does not mean that a person will develop the condition.
How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections.
Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of heme (a component of the hemoglobin protein) in bone marrow. ALAS2 mutations impair the activity of erythroid ALA-synthase, which disrupts normal heme production and prevents erythroblasts from making enough hemoglobin. Because almost all of the iron transported into erythroblasts is normally incorporated into heme, the reduced production of heme leads to a buildup of excess iron in these cells. Additionally, the body attempts to compensate for the hemoglobin shortage by absorbing more iron from the diet. This buildup of excess iron damages the body's organs. Low hemoglobin levels and the resulting accumulation of iron in the body's organs lead to the characteristic features of X-linked sideroblastic anemia. People who have a mutation in another gene, HFE, along with a mutation in the ALAS2 gene may experience a more severe form of X-linked sideroblastic anemia. In this uncommon situation, the combined effect of these two mutations can lead to a more serious iron overload. Mutations in the HFE gene alone can increase the absorption of iron from the diet and result in hemochromatosis, which is another type of iron overload disorder.
Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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. Other cases of Weill-Marchesani syndrome, including those caused by mutations in the FBN1 gene, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the genetic change from one parent with the condition.
Urine leakage has many possible causes.
HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Saudi Arabia, Portugal, or Spain.
What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery
Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin reductase deficiency can experience episodes called oculogyric crises. These episodes involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as sitting and crawling, and they typically are not able to walk unassisted. The problems with movement tend to worsen over time. People with sepiapterin reductase deficiency may have additional signs and symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings.
A pulmonary embolism is a sudden blockage in a lung artery. The cause is usually a blood clot in the leg called a deep vein thrombosis that breaks loose and travels through the bloodstream to the lung. Pulmonary embolism is a serious condition that can cause - Permanent damage to the affected lung - Low oxygen levels in your blood - Damage to other organs in your body from not getting enough oxygen If a clot is large, or if there are many clots, pulmonary embolism can cause death. Half the people who have pulmonary embolism have no symptoms. If you do have symptoms, they can include shortness of breath, chest pain or coughing up blood. Symptoms of a blood clot include warmth, swelling, pain, tenderness and redness of the leg. The goal of treatment is to break up clots and help keep other clots from forming. NIH: National Heart, Lung, and Blood Institute
Although the prevalence of IBMPFD is unknown, this condition is rare. It has been identified in about 26 families.
Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). It can also be produced in various tissues in the body. For example, the brain cannot access the cholesterol that comes from food, so brain cells must produce their own. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. DHCR24 gene mutations lead to the production of 24-dehydrocholesterol reductase with reduced activity. As a result, there is a decrease in cholesterol production. Because the brain relies solely on cellular production for cholesterol, it is most severely affected. Without adequate cholesterol, cell membranes are not formed properly and nerve cells are not protected by myelin, leading to the death of these cells. In addition, a decrease in cholesterol production has more severe effects before birth than during other periods of development because of the rapid increase in cell number that takes place. Disruption of normal cell formation before birth likely accounts for the additional developmental abnormalities of desmosterolosis.
Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes. People with Feingold syndrome are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Additional common features of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities.
Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.
Myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting. Only the paternal copy of the SGCE gene is active. Myoclonus-dystonia occurs when mutations affect the paternal copy of the SGCE gene. Mutations in the maternal copy of the gene typically do not cause any health problems.
Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may occur at any age and may affect males as well. Treatment may include radioiodine therapy, antithyroid drugs, and/or thyroid surgery.
Alternating hemiplegia of childhood is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of alternating hemiplegia of childhood result from new mutations in the gene and occur in people with no history of the disorder in their family. However, the condition can also run in families. For unknown reasons, the signs and symptoms are typically milder when the condition is found in multiple family members than when a single individual is affected.
Summary : Health facilities are places that provide health care. They include hospitals, clinics, outpatient care centers, and specialized care centers, such as birthing centers and psychiatric care centers. When you choose a health facility, you might want to consider - How close it is to where you live or work - Whether your health insurance will pay for services there - Whether your health care provider can treat you there - The quality of the facility Quality is important. Some facilities do a better job than others. One way to learn about the quality of a facility is to look at report cards developed by federal, state, and consumer groups.
Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons often live in close proximity to humans. Humans can acquire the parasite by ingesting the eggs of infected raccoons. Young children are at greatest risk for Baylisascaris infection because they are more likely to put contaminated soil in their mouths. Though rare, human infections can be severe if the parasite invades the eye (ocular larva migrans), organs (visceral larva migrans), or the brain (neural larva migrans). Symptoms of a Baylisascaris infection may include nausea, fatigue, an enlarged liver, loss of coordination, lack of muscle control, blindness, and coma. Baylisascaris infections cannot be spread from one person to another. No drug has been found to be completely effective against Baylisascaris infections in humans though albendazole has been used in some cases.
The National Institute of Neurological Disorders and Stroke (NINDS) supports TBI research through grants to major medical institutions across the country and conducts TBI research in its intramural laboratories and Clinical Center at the National Institutes of Health (NIH) in Bethesda,Maryland. The Center for Neuroscience and Regenerative Medicine (CNRM) is a TBI research collaboration between intramural NIH and the Uniformed Services University for the Health Sciences (USUHS). NINDS-funded research involves studies in the laboratory and in clinical settings to better understand TBI and the biological mechanisms underlying damage to the brain. This research will allow scientists to develop strategies and interventions to limit the primary and secondary brain damage that occurs within days of a head trauma, and to devise therapies to treat brain injury and improve long-term recovery of function. More information about Traumatic Brain Injury (TBI) Research is available at: http://www.ninds.nih.gov/research/tbi/index.htm More information about CNRM clinical studies is available at: http://cnrmstudies.org/
What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). Although people who are obese may be overrepresented among those with lipedema, persons of normal weight are also commonly affected. As a result, obesity alone is unlikely to be a major determinant of this syndrome. Many people with lipedema have a family history of similarly enlarged legs. At this time the role of genetics in the causation of lipedema is unknown.
Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.
Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.
NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Signals relayed by the N-Ras and BRAF proteins instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). To transmit signals, these proteins must be turned on; when the proteins are turned off, they do not relay signals to the cell's nucleus. The NRAS or BRAF gene mutations responsible for giant congenital melanocytic nevus are somatic, meaning that they are acquired during a person's lifetime and are present only in certain cells. These mutations occur early in embryonic development during the growth and division (proliferation) of cells that develop into melanocytes. Somatic NRAS or BRAF gene mutations cause the altered protein in affected cells to be constantly turned on (constitutively active) and relaying signals. The overactive protein may contribute to the development of giant congenital melanocytic nevus by allowing cells that develop into melanocytes to grow and divide uncontrollably, starting before birth.
Eating, diet, and nutrition have not been shown to play a role in causing or preventing HSP.
What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of the condition that are all caused by changes (mutations) in a specific gene.
Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than people with the symptomatic form to have a family history of epilepsy.
Hormonal therapy deprives cancer cells of the male hormones they need to grow and survive. This treatment is often used for prostate cancer that has spread to other parts of the body. Sometimes doctors use hormonal therapy to try to keep the cancer from coming back after surgery or radiation treatment. Side effects can include impotence, hot flashes, loss of sexual desire, and thinning of bones.
You may have a kidney stone if you - have pain while urinating - see blood in your urine - feel a sharp pain in your back or lower abdomenthe area between your chest and hips The pain may last for a short or long time. You may have nausea and vomiting with the pain. If you have a small stone that passes on its own easily, you may not have symptoms at all.
Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. Symptoms usually begin suddenly and reach their peak within 72 hours, and can range in severity from mild weakness to total paralysis. Symptoms vary among individuals and include sudden weakness on one side of the face, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, altered taste, and excessive tearing in the eye. Bells palsy can cause significant facial distortion. The exact cause of Bell's palsy isn't known, but many scientists believe that reactivation of a dormant viral infection can cause the facial nerve to swell and becomes inflamed. Several other conditions can cause facial paralysis that might be diagnosed as Bell's palsy..
22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features. The condition may not be identified in people with mild signs and symptoms, or it may be mistaken for other disorders with overlapping features.
What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum. Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders. A team of doctors in other specialties - including dermatology, cardiology, plastic surgery, vascular surgery, genetics, and nutrition - may also help with the management this condition. Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes. Several therapies may be effective for slowing the reduction in vision in PXE. Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.
Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. Laryngomalacia has also been reported as being associated with various syndromes. In cases where these specific syndromes are inherited, a predisposition to being born with laryngomalacia may be present. However, even within a family, not all individuals affected with one of these syndromes will have the exact same signs and symptoms (including laryngomalacia). Syndromes that have been associated with laryngomalacia include diastrophic dysplasia, alopecia universalis congenital, XY gonadal dysgenesis, Costello syndrome, DiGeorge syndrome, and acrocallosal syndrome. The inheritance pattern depends upon the specific syndrome present.
This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Chemotherapy is a cancer treatment that uses drugs to kill cancer cells. This is the most common treatment for most types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain.
These resources address the diagnosis or management of isolated growth hormone deficiency: - Genetic Testing Registry: Ateleiotic dwarfism - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency - Genetic Testing Registry: Isolated growth hormone deficiency type 1B - Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency - MedlinePlus Encyclopedia: Growth Hormone Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Sjgren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Treatment is symptomatic and supportive and may include moisture replacement therapies, nonsteroidal anti-inflammatory drugs and, in severe cases, corticosteroids or immunosuppressive drugs.
Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.
Mutations in the PMP22 gene cause hereditary neuropathy with liability to pressure palsies. Hereditary neuropathy with liability to pressure palsies is caused by the loss of one copy of the PMP22 gene or alterations within the gene. The consequences of PMP22 gene mutations are not clearly understood. Most likely, PMP22 gene mutations affect myelin, the protective substance that covers nerve cells. As a result of these mutations, some of the protective myelin covering may become unstable, which leads to increased sensitivity to pressure on the nerves.
Gas is air in the digestive tractthe large, muscular tube that extends from the mouth to the anus, where the movement of muscles, along with the release of hormones and enzymes, allows for the digestion of food. Gas leaves the body when people burp through the mouth or pass gas through the anus. Gas is primarily composed of carbon dioxide, oxygen, nitrogen, hydrogen, and sometimes methane. Flatus, gas passed through the anus, may also contain small amounts of gasses that contain sulfur. Flatus that contains more sulfur gasses has more odor. Everyone has gas. However, many people think they burp or pass gas too often and that they have too much gas. Having too much gas is rare.
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene.
IgA nephropathy is one of the most common kidney diseases, other than those caused by diabetes or high blood pressure.1 IgA nephropathy can occur at any age, although the first evidence of kidney disease most frequently appears when people are in their teens to late 30s.2 IgA nephropathy in the United States is twice as likely to appear in men than in women.3 While found in people all over the world, IgA nephropathy is more common among Asians and Caucasians.4 A person may be more likely to develop IgA nephropathy if - he or she has a family history of IgA nephropathy or Henoch-Schnlein purpuraa disease that causes small blood vessels in the body to become inflamed and leak - he is a male in his teens to late 30s - he or she is Asian or Caucasian
Genetic factors can cause kidney dysplasia. Genes pass information from both parents to the child and determine the childs traits. Sometimes, parents may pass a gene that has changed, or mutated, causing kidney dysplasia. Genetic syndromes that affect multiple body systems can also cause kidney dysplasia. A syndrome is a group of symptoms or conditions that may seem unrelated yet are thought to have the same genetic cause. A baby with kidney dysplasia due to a genetic syndrome might also have problems of the digestive tract, nervous system, heart and blood vessels, muscles and skeleton, or other parts of the urinary tract. A baby may also develop kidney dysplasia if his or her mother takes certain prescription medications during pregnancy, such as some used to treat seizures and high blood pressure. A mothers use of illegal drugs, such as cocaine, during pregnancy may also cause kidney dysplasia in her unborn child.
Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment.
Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the changes that helps trigger muscle contractions is the flow of positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels stay open too long or do not stay closed long enough, allowing more sodium ions to flow into muscle cells. This increase in sodium ions triggers the release of potassium from muscle cells, which causes more sodium channels to open and stimulates the flow of even more sodium ions into these cells. These changes in ion transport reduce the ability of skeletal muscles to contract, leading to episodes of muscle weakness or paralysis. In 30 to 40 percent of cases, the cause of hyperkalemic periodic paralysis is unknown. Changes in other genes, which have not been identified, likely cause the disorder in these cases.
Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. These genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but 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 XI collagen is also part of the inner ear; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between vertebrae. Mutations in the COL11A1 or COL11A2 gene impair the assembly of type XI collagen, in most cases leading to the production of abnormal collagen molecules. The defective collagen weakens connective tissues, impairing the formation of bones throughout the skeleton and causing changes in the eye and inner ear that lead to vision and hearing problems.
These resources address the diagnosis or management of CADASIL: - Butler Hospital: Treatment and Management of CADASIL - Gene Review: Gene Review: CADASIL - Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - MedlinePlus Encyclopedia: Multi-Infarct Dementia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood. Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence. Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include - Heavy periods - Pregnancy - Ulcers - Colon polyps or colon cancer - Inherited disorders - A diet that does not have enough iron, folic acid or vitamin B12 - Blood disorders such as sickle cell anemia and thalassemia, or cancer - Aplastic anemia, a condition that can be inherited or acquired - G6PD deficiency, a metabolic disorder Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute
Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning.
5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell. The commonly deleted region of DNA contains 40 genes, many of which play a critical role in normal blood cell development. Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome. Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells. Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome.
These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed? - Gene Review: Gene Review: Proopiomelanocortin Deficiency - Genetic Testing Registry: Proopiomelanocortin deficiency - MedlinePlus Encyclopedia: ACTH - National Heart Lung and Blood Institute: How Are Overweight and Obesity Treated? - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency 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
Graves ophthalmopathy is a condition associated with Graves disease that occurs when cells from the immune system attack the muscles and other tissues around the eyes. The result is inflammation and a buildup of tissue and fat behind the eye socket, causing the eyeballs to bulge out. Rarely, inflammation is severe enough to compress the optic nerve that leads to the eye, causing vision loss. Other GO symptoms are - dry, gritty, and irritated eyes - puffy eyelids - double vision - light sensitivity - pressure or pain in the eyes - trouble moving the eyes About 25 to 30 percent of people with Graves disease develop mild GO, and 2 to 5 percent develop severe GO.1 This eye condition usually lasts 1 to 2 years and often improves on its own. GO can occur before, at the same time as, or after other symptoms of hyperthyroidism develop and may even occur in people whose thyroid function is normal. Smoking makes GO worse. 1Yeung SJ, Habra MA, Chiu AC. Graves disease. emedicine website. emedicine.medscape.com/article/120619-overview. Updated 2010. Accessed December 10, 2011.
Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.
The signs and symptoms of childhood brain and spinal cord tumors are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - The size of the tumor. - How fast the tumor grows. - The child's age and development. Signs and symptoms may be caused by childhood brain and spinal cord tumors or by other conditions, including cancer that has spread to the brain. Check with your child's doctor if your child has any of the following: Brain Tumor Signs and Symptoms - Morning headache or headache that goes away after vomiting. - Frequent nausea and vomiting. - Vision, hearing, and speech problems. - Loss of balance and trouble walking. - Unusual sleepiness or change in activity level. - Unusual changes in personality or behavior. - Seizures. - Increase in the head size (in infants). Spinal Cord Tumor Signs and Symptoms - Back pain or pain that spreads from the back towards the arms or legs. - A change in bowel habits or trouble urinating. - Weakness in the legs. - Trouble walking. In addition to these signs and symptoms of brain and spinal cord tumors, some children are unable to reach certain growth and development milestones such as sitting up, walking, and talking in sentences.
Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.
What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Panhypopituitarism - Pituitary dwarfism - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters. Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. BPES type 2 consists only of the eyelid malformations, whereas BPES type 1 also causes premature ovarian failure. It is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant manner. Treatment typically consists of various eyelid surgeries to correct the malformations.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Citrullinemia type I - Genetic Testing Registry: Citrullinemia type II - Genetic Testing Registry: Neonatal intrahepatic cholestasis caused by citrin deficiency - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality 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 UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up, or refluxing, toward the kidneys, and urination washes microbes out of the body. Immune defenses also prevent infection. But despite these safeguards, infections still occur. Certain bacteria have a strong ability to attach themselves to the lining of the urinary tract. Children who often delay urination are more likely to develop UTIs. Regular urination helps keep the urinary tract sterile by flushing away bacteria. Holding in urine allows bacteria to grow. Producing too little urine because of inadequate fluid intake can also increase the risk of developing a UTI. Chronic constipationa condition in which a child has fewer than two bowel movements a weekcan add to the risk of developing a UTI. When the bowel is full of hard stool, it presses against the bladder and bladder neck, blocking the flow of urine and allowing bacteria to grow. Some children develop UTIs because they are prone to such infections, just as other children are prone to getting coughs, colds, or ear infections.
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations. Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia). Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition.
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 supports research on genetic disorders such as Barth syndrome, including basic research on mitochondrial dysfunction and investigations of other inborn errors of metabolism. Scientists have identified many of the genetic mutations that cause mitochondrial diseases and have created animal models which can be used to investigate potential treatments. Scientists hope to develop unique approaches to treating mitochondrial diseases through a better understanding of mitochondrial biology. Because people affected by mitochondrial disease often have a mixture of healthy and mutant mitochondria in their cells, effective therapy could involve getting the healthy mitochondria to take over for the diseased ones.
Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis. Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties.
How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.
A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for testicular cancer include the following: - Having cryptorchidism (an undescended testicle). - Having a testicle that is not normal, such as a small testicle that does not work the way it should. - Having testicular carcinoma in situ. - Being white. - Having a personal or family history of testicular cancer. - Having Klinefelter syndrome. Men who have cryptorchidism, a testicle that is not normal, or testicular carcinoma in situ have an increased risk of testicular cancer in one or both testicles, and need to be followed closely.
Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal organs and major blood vessels. In addition, a careful assessment of the spleen in the newborn is important. People with spleen dysfunction are at an increased risk for serious infection and benefit from prophylactic life-long antibiotics and vaccination. Barium contrast screening has been used for early detection of intestinal malrotation and to guide treatment. Also, long-term, infrequent follow-up of infants and adults with isoalted levocardia to monitor for heart rhythm problems is recommended.
Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknown. It has rarely been observed in multiple members of the same family. Treatment is aimed at reducing symptoms and preventing complications. Severe cases are treated similarly to severe burns.
Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute
How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. Additional therapy, such as cyclophosphamide, chlorambucil, azathioprine, methotrexate, dapsone, cyclosporine, or plasma exchange, may also be recommended. The goal of therapy is remission (to have no active disease) within 6 months or so. At this point the person may be maintained on cyclophosphamide (or other therapy) for a year, before it is tapered and withdrawn over the course of 3 to 6 months.It is very important that people undergoing treatment for polyarteritis nodosa be monitored closely for toxic effects of the drugs or for signs of worsening disease. This monitoring may involve blood counts, urinalyses, serum chemistries, and the ESR on at least monthly intervals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the MUT, MMAA, MMAB, MMADHC, or MCEE gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition are carriers of one copy of the mutated gene but do not show signs and symptoms of the condition.
The prognosis for diabetic neuropathy depends largely on how well the underlying condition of diabetes is handled. Treating diabetes may halt progression and improve symptoms of the neuropathy, but recovery is slow. The painful sensations of diabetic neuropathy may become severe enough to cause depression in some patients.
GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown.
These resources address the diagnosis or management of familial isolated hyperparathyroidism: - Cleveland Clinic: Hyperparathyroidism - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 1 - MedlinePlus Encyclopedia: Hyperparathyroidism 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 congenital fiber-type disproportion: - Gene Review: Gene Review: Congenital Fiber-Type Disproportion - Genetic Testing Registry: Congenital myopathy with fiber type disproportion - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Hypotonia 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
Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop. Pars planitis most often affects young men and is generally not associated with any other disease or symptoms (idiopathic); however, it can be associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Treatment typically includes corticosteroid drugs, immunosuppressive medications, and/or surgery.
These resources address the diagnosis or management of Kawasaki disease: - Cincinnati Children's Hospital Medical Center - Genetic Testing Registry: Acute febrile mucocutaneous lymph node syndrome - National Heart, Lung, and Blood Institute: How is Kawasaki Disease Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral dysplasia. 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) Aplasia/Hypoplasia affecting the eye 90% Dandy-Walker malformation 90% Optic atrophy 90% Abnormality of the palpebral fissures 7.5% 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 : When it comes to taking medicines, kids aren't just small adults. For prescription medicines, there is a "Pediatric" section of the label. It says whether the medication has been studied for its effects on children. It also tells you what ages have been studied. Aside from drugs for fever or pain, most over-the-counter products haven't actually been studied in children for effectiveness, safety, or dosing. When you give medicine to your child, be sure you're giving the right medicine and the right amount. Read and follow the label directions. Use the correct dosing device. If the label says two teaspoons and you're using a dosing cup with ounces only, don't guess. Get the proper measuring device. Don't substitute another item, such as a kitchen spoon. Talk to your doctor, pharmacist, or other health care provider before giving two medicines at the same time. That way, you can avoid a possible overdose or an unwanted interaction. Follow age and weight limit recommendations. If the label says don't give to children under a certain age or weight, don't do it. Food and Drug Administration
Finding the cause of bladder pain may require several tests. While tests may aid your doctor in making a diagnosis of IC/PBS, a careful review of your symptoms and a physical exam in the office are generally the most important parts of the evaluation.
What causes a urachal cyst? A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. This can lead to urachal abnormalities such as urachal cysts.
Zollinger-Ellison syndrome signs and symptoms are similar to those of peptic ulcers. A dull or burning pain felt anywhere between the navel and midchest is the most common symptom of a peptic ulcer. This discomfort usually - occurs when the stomach is emptybetween meals or during the nightand may be briefly relieved by eating food - lasts for minutes to hours - comes and goes for several days, weeks, or months Other symptoms include - diarrhea - bloating - burping - nausea - vomiting - weight loss - poor appetite Some people with Zollinger-Ellison syndrome have only diarrhea, with no other symptoms. Others develop gastroesophageal reflux (GER), which occurs when stomach contents flow back up into the esophagusa muscular tube that carries food and liquids to the stomach. In addition to nausea and vomiting, reflux symptoms include a painful, burning feeling in the midchest. More information about GER is provided in the NIDDK health topic, Gastroesophageal Reflux (GER) and Gastroesophageal Reflux Disease (GERD) in Adults.
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.
You use your fingers and thumbs to do everything from grasping objects to playing musical instruments to typing. When there is something wrong with them, it can make life difficult. Common problems include - Injuries that result in fractures, ruptured ligaments and dislocations - Osteoarthritis - wear-and-tear arthritis. It can also cause deformity. - Tendinitis - irritation of the tendons - Dupuytren's contracture - a hereditary thickening of the tough tissue that lies just below the skin of your palm. It causes the fingers to stiffen and bend. - Trigger finger - an irritation of the sheath that surrounds the flexor tendons. It can cause the tendon to catch and release like a trigger.
You have two kidneys. They are fist-sized organs on either side of your backbone above your waist. The tubes inside filter and clean your blood, taking out waste products and making urine. Kidney cancer forms in the lining of tiny tubes inside your kidneys. Kidney cancer becomes more likely as you age. Risk factors include smoking, having certain genetic conditions, and misusing pain medicines for a long time. You may have no symptoms at first. They may appear as the cancer grows. See your health care provider if you notice - Blood in your urine - A lump in your abdomen - Weight loss for no reason - Pain in your side that does not go away - Loss of appetite Treatment depends on your age, your overall health and how advanced the cancer is. It might include surgery, chemotherapy, or radiation, biologic, or targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute

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