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Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2
Marinesco-Sjgren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.
Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment. For cardiac or gastrointestinal problems resulting from Chagas disease, symptomatic treatment may be helpful. Patients should consult with their primary health care provider. Some patients may be referred to a specialist, such as a cardiologist, gastroenterologist, or infectious disease specialist. In the U.S., medication for Chagas is available only through CDC. Your health care provider can talk with CDC staff about whether and how you should be treated. More on: Resources for Health Professionals: Antiparasitic Treatment
Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States.
When isolated ectopia lentis is caused by mutations in the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When isolated ectopia lentis is caused by mutations in the ADAMTSL4 gene, it 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.
Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood.
Treatment depends on the type of heart block you have. If you have first-degree heart block, you may not need treatment. If you have second-degree heart block, you may need a pacemaker. A pacemaker is a small device that's placed under the skin of your chest or abdomen. This device uses electrical pulses to prompt the heart to beat at a normal rate. If you have third-degree heart block, you will need a pacemaker. In an emergency, a temporary pacemaker might be used until you can get a long-term device. Most people who have third-degree heart block need pacemakers for the rest of their lives. Some people who have third-degree congenital heart block don't need pacemakers for many years. Others may need pacemakers at a young age or during infancy. If a pregnant woman has an autoimmune disease, such as lupus, her fetus is at risk for heart block. If heart block is detected in a fetus, the mother might be given medicine to reduce the fetus' risk of developing serious heart block. Sometimes acquired heart block goes away if the factor causing it is treated or resolved. For example, heart block that occurs after a heart attack or surgery may go away during recovery. Also, if a medicine is causing heart block, the condition may go away if the medicine is stopped or the dosage is lowered. (Always talk with your doctor before you change the way you take your medicines.)
The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem. Symptoms in Newborns Newborns with HD almost always fail to have their first bowel movement within 48 hours after birth. Other symptoms include - green or brown vomit - explosive stools after a doctor inserts a finger into the rectum - swelling of the belly, also known as the abdomen - lots of gas - bloody diarrhea Symptoms in Toddlers and Older Children Symptoms of HD in toddlers and older children include - not being able to pass stools without laxatives or enemas. A laxative is medicine that loosens stool and increases bowel movements. An enema is performed by flushing water, or sometimes a mild soap solution, into the anus using a special wash bottle. - swelling of the abdomen. - lots of gas. - bloody diarrhea. - slow growth or development. - lack of energy because of a shortage of red blood cells, called anemia.
What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. 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) Nonspherocytic hemolytic anemia 5% Autosomal dominant 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.
When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. They can pass on the gene mutation to their children, but they do not usually experience signs and symptoms of the disorder. In some cases, carriers of BCHE gene mutations take longer than usual to clear choline ester drugs from the body, but not as long as those with two copies of the altered gene in each cell.
Summary : Tubal ligation (getting your "tubes tied") is a type of surgery. It prevents a woman from getting pregnant. It is a permanent form of birth control. The surgery closes the fallopian tubes, which connect the ovaries to the uterus. It usually takes about 30 minutes. Almost all women go home the same day. Women can return to most normal activities within a few days. Tubal ligation can sometimes be reversed, but not always.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patients age. - The phase of CML. - The amount of blasts in the blood or bone marrow. - The size of the spleen at diagnosis. - The patients general health.
The vulva is the external part of a woman's genitals. Some problems you can have with the vulvar area include - Bacterial or fungal infections - Skin problems due to allergy - Vulvar cancer - Vulvodynia, or vulvar pain Symptoms may include redness, itching, pain, or cracks in the skin. Treatment depends on the cause.
How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription) Lotions that contain coal tar Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) People with very severe guttate psoriasis may take medicines to suppress the body's immune system. These medicines include corticosteroids, cyclosporine, and methotrexate. Sunlight may help some symptoms go away. Care should be taken to avoid sunburn. Some people may choose to have phototherapy. Phototherapy is a medical procedure in which the skin is carefully exposed to ultraviolet light. Phototherapy may be given alone or after taking a drug that makes the skin more sensitive to light. More detailed information related to the treatment of psoriasis can be accessed through Medscape Reference. The National Psoriasis Foundation can also provide you with information on treatment.
What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a "tumor suppressor." Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. Mutations in the APC gene lead to uncontrolled cell growth which results in the development of the polyps, tumors and cancers that can be associated with Gardner syndrome. The symptoms found in each person and the severity of the condition depend on which part of the APC gene is mutated.
Piercings and tattoos are body decorations that go back to ancient times. Body piercing involves making a hole in the skin so that you can insert jewelry. This is often in the earlobe, but can be in other parts of the body. Tattoos are designs on the skin made with needles and colored ink. A permanent tattoo is meant to last forever. Permanent makeup is a type of tattoo. The health risks of piercings and tattoos include - Allergic reactions - Keloids, a type of scar that forms during healing - Infections, such as hepatitis To reduce the risks, make sure that the facility is clean, safe and has a good reputation. Proper sterilization of the equipment is important. Be sure to follow the instructions on caring for your skin. Holes from piercing usually close up if you no longer wear the jewelry. It is possible to remove tattoos, but it's painful and can cause scarring.
How is multiple endocrine neoplasia type 2A inherited? Multiple endocrine neoplasia type 2A (MEN 2A) is inherited in an autosomal dominant pattern. A person with MEN 2A often inherits the altered RET gene from one parent with the condition.
AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of particular genes. The p63 protein turns many different genes on and off during development. It appears to be especially critical for the development of ectodermal structures, such as the skin, hair, teeth, and nails. Studies suggest that it also plays important roles in the development of the limbs, facial features, urinary system, and other organs and tissues. The TP63 gene mutations responsible for AEC syndrome interfere with the ability of p63 to turn target genes on and off at the right times. It is unclear how these changes lead to abnormal ectodermal development and the specific features of AEC syndrome.
These resources address the diagnosis or management of ARCA1: - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 - Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia? - MedlinePlus Encyclopedia: Dysarthria--Care 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 common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner.
Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily environment (exposure to environmental allergens or occupational hazards). He or she will test your vision, check your eye pressure, examine your eyelids and front eye structures, and if necessary may dilate the pupils to examine the inside of the eye. Your eye care professional may order a tearing test to find out if your eyes are producing enough tears to keep them moist. In one type of test, called a Schirmers test, the doctor may measure your tear production by placing strips of blotting paper under your lower eyelids, usually done after numbing the eye with anesthetic drops. After a few minutes, the doctor removes the strips and measures the amount of tear production.
Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.
Depending on the substance(s) involved, treatment may include medications, behavioral treatments, or a combination. A doctor, substance abuse counselor, or other health professional can determine the right treatment for an individual. Treatment helps people reduce the powerful effects of drugs on the body and brain. In doing so, treatment helps people improve their physical health and everyday functioning and regain control of their lives. Once in treatment, older adults do just as well or better than younger adults.
These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Severe Form of Epilepsy (U.S. Food and Drug Administration, November 20, 2008) 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
No matter how old you are or what you do for a living, you are always using your hands. When there is something wrong with them, you may not be able to do your regular activities. Hand problems include - Carpal tunnel syndrome - compression of a nerve as it goes through the wrist, often making your fingers feel numb - Injuries that result in fractures, ruptured ligaments and dislocations - Osteoarthritis - wear-and-tear arthritis, which can also cause deformity - Tendinitis - irritation of the tendons - Disorders and injuries of your fingers and thumb
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.
Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. Tyrosine hydroxylase helps convert the protein building block (amino acid) tyrosine to a catecholamine called dopamine. Dopamine transmits signals to help the brain control physical movement and emotional behavior. Other catecholamines called norepinephrine and epinephrine are produced from dopamine. Norepinephrine and epinephrine are involved in the autonomic nervous system. Mutations in the TH gene result in reduced activity of the tyrosine hydroxylase enzyme. As a result, the body produces less dopamine, norepinephrine and epinephrine. These catecholamines are necessary for normal nervous system function, and changes in their levels contribute to the abnormal movements, autonomic dysfunction, and other neurological problems seen in people with TH deficiency.
There are many different species of hookworms, some are human parasites and some are animal parasites. People can be infected by larvae of animal hookworms, usually dog and cat hookworms. The most common result of animal hookworm infection is a skin condition called cutaneous larva migrans.
What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. Muscles of the hands and lower arms are most commonly affected, but muscles of the lower limbs may also be involved. The symptoms are often asymmetrical, meaning that they differ on the right and left side of the body.
There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given intravenously), a high-salt diet, and drugs such as fludrocortisone and midodrine.
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from an affected parent. In a small number of families, GLUT1 deficiency syndrome 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.
Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. Treatment of a underlying disorder or cancer is the first priority of treatment.
Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons. A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.
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. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in which an affected person has inherited the mutation from one affected parent.
Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature.
Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening. Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.
These resources address the diagnosis or management of Carpenter syndrome: - Genetic Testing Registry: Carpenter syndrome 1 - Genetic Testing Registry: Carpenter syndrome 2 - Great Ormond Street Hospital for Children (UK): Craniosynostosis Information - Johns Hopkins Medicine: Craniosynostosis Treatment Options - MedlinePlus Encyclopedia: Craniosynostosis Repair - MedlinePlus Encyclopedia: Dextrocardia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive.
The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus. Anal cancer is rare. It is more common in smokers and people over 50. You are also at higher risk if you have HPV, have anal sex, or have many sexual partners. Symptoms include bleeding, pain, or lumps in the anal area. Anal itching and discharge can also be signs of anal cancer. Doctors use tests that examine the anus to diagnose anal cancer. They include a physical exam, endoscopy, ultrasound, and biopsy. Treatments include radiation therapy, chemotherapy, and surgery. NIH: National Cancer Institute
The most common sign of primary amyloidosis of the kidneys is nephrotic syndromea collection of signs that indicate kidney damage. The signs of nephrotic syndrome include - albuminuriaan increased amount of albumin, a protein, in the urine. A person with nephrotic syndrome excretes more than half a teaspoon of albumin per day. - hyperlipidemiaa condition in which a persons blood has more-than-normal amounts of fats and cholesterol. - edemaswelling, typically in a persons legs, feet, or ankles and less often in the hands or face. - hypoalbuminemiaa condition in which a persons blood has less-than-normal amounts of albumin. More information is provided in the NIDDK health topic, Nephrotic Syndrome in Adults. Other signs and symptoms of primary amyloidosis may include - fatigue, or feeling tired - shortness of breath - low blood pressure - numbness, tingling, or a burning sensation in the hands or feet - weight loss
Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream. Symptoms may include difficulty breathing, low blood pressure and organ failure, rapid breathing and shortness of breath.
These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Some cases of herpes zoster oticus do not require treatment. When treatment is needed, medications such as antiviral drugs or corticosteroids may be prescribed. Vertigo may be treated with the drug diazepam
These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney 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
How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD deficiency vary widely in severity; therefore, some people with 2 mutated copies of the gene may have signs and symptoms of the condition, while others may be asymptomatic. However, all individuals with 2 mutations are at risk for toxic reactions to fluoropyrimidine drugs. Individuals who carry one mutated copy of the disease-causing gene (including most parents of affected individuals) are referred to as carriers. Carriers typically do not have signs and symptoms of the condition. However, people with one mutated copy of the DPYD gene may still experience toxic reactions to fluoropyrimidine drugs. When 2 carriers for the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. A child of one carrier parent has a 50% risk to also be a carrier.
The urethra is the tube that allows urine to pass out of the body. In men, it's a long tube that runs through the penis. It also carries semen in men. In women, it's short and is just above the vagina. Urethral problems may happen due to aging, illness, or injury. They include - Urethral stricture - a narrowing of the opening of the urethra - Urethritis - inflammation of the urethra, sometimes caused by infection Urethral problems may cause pain or difficulty passing urine. You may also have bleeding or discharge from the urethra. Doctors diagnose urethral problems using different tests. These include urine tests, x-rays and an examination of the urethra with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery.
Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives.
Summary : A cochlear implant is a small, complex electronic device that can help to provide a sense of sound. People who are profoundly deaf or severely hard-of-hearing can get help from them. The implant consists of two parts. One part sits on the outside of the body, behind the ear. A second part is surgically placed under the skin. An implant does not restore normal hearing. It can help a person understand speech. Children and adults can benefit from them. National Institute on Deafness and Other Communication Disorders
A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas can occur anywhere along the spine. Approximately half of all chordomas occur at the base of the spine; approximately one third occur at the base of the skull. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma at the base of the skull may lead to double vision and headaches. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. Chordomas typically occur in adults between the ages of 40 and 70. In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordoma in a small set of families. In these families an inherited duplication of the T gene is associated with an increased risk of developing chordoma. People with this inherited duplication inherit an increased risk for the condition, not the condition itself.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are studying how the interplay of genetic, developmental, and environmental factors could determine a childs vulnerability to SD after a GABHS infection. Other researchers are exploring whether children whose symptoms either begin or get worse following a GABHS infection share a common set of abnormal biomolecular pathways responsible for their similar clinical symptoms.
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a mutation at the same place in the ACVR1 gene and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.
Roberts syndrome is a rare disorder; approximately 150 affected individuals have been reported.
Schistosomiasis, also known as bilharzia, is a disease caused by parasitic worms. Infection with Schistosoma mansoni, S. haematobium, and S. japonicum causes illness in humans; less commonly, S. mekongi and S. intercalatum can cause disease. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide.
We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: - Injuries, diseases, or abnormal development of the muscles or bones of your legs or feet - Movement disorders such as Parkinson's disease - Diseases such as arthritis or multiple sclerosis - Vision or balance problems Treatment of walking problems depends on the cause. Physical therapy, surgery, or mobility aids may help.
With treatment, most individuals with myasthenia can significantly improve their muscle weakness. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate emergency medical care.
What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. 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) Behavioral abnormality 5% Neurological speech impairment 5% Intellectual disability 1% Autosomal recessive inheritance - Histidinuria - Hyperhistidinemia - 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.
Aspergillosis is a disease caused by a fungus (or mold) called Aspergillus. The fungus is very common in both indoors and outdoors. Most people breathe in the spores of the fungus every day without being affected. But some people get the disease. It usually occurs in people with lung diseases or weakened immune systems. There are different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA). Symptoms of ABPA include wheezing and coughing. ABPA can affect healthy people but it is most common in people with asthma or cystic fibrosis. Another kind is invasive aspergillosis, which damages tissues in the body. It usually affects the lungs. Sometimes it can also cause infection in other organs and spread throughout the body. It affects people who have immune system problems, such as people who have had a transplant, are taking high doses of steroids, or getting chemotherapy for some cancers. Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, and an examination of tissues for signs of the fungus. Treatment is with antifungal drugs. If you have ABPA, you may also take steroids. Centers for Disease Control and Prevention
Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. Outbreaks can also happen after disasters. The disease is not likely to spread directly from one person to another. Often the infection is mild or without symptoms, but sometimes it can be severe. Severe symptoms include profuse watery diarrhea, vomiting, and leg cramps. In severe cases, rapid loss of body fluids leads to dehydration and shock. Without treatment, death can occur within hours. Doctors diagnose cholera with a stool sample or rectal swab. Treatment includes replacing fluid and salts and sometimes antibiotics. Anyone who thinks they may have cholera should seek medical attention immediately. Dehydration can be rapid so fluid replacement is essential. Centers for Disease Control and Prevention
Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. The fused vertebrae can cause nerve damage and pain in the head, neck, or back. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), cleft palate, respiratory problems, and heart malformations. Other features may include joint pain; anomalies of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers; and difficulties hearing. Most cases are sporadic (happen on their own) but mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder. These genes make proteins that are involved in bone development and segmentation of the vertebrae.
These resources address the diagnosis or management of 1q21.1 microdeletion: - Gene Review: Gene Review: 1q21.1 Recurrent Microdeletion - Genetic Testing Registry: 1q21.1 recurrent microdeletion 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 estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.
What signs and symptoms are associated with desmoplastic infantile gangliomas? Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting.
Harlequin ichthyosis is very rare; its exact incidence is unknown.
During the first phase of the disease, the most common laboratory abnormalities are a low white blood cell count (leukopenia) and a low platelet count (thrombocytopenia). Liver enzymes in the serum may also be mildly elevated. After the onset of neurological disease during the second phase, an increase in protein levels, an increase in the number of white blood cells or a decrease in the glucose levels in the cerebrospinal fluid (CSF) is usually found. Laboratory diagnosis is usually made by detecting IgM and IgG antibodies in the CSF and serum. Virus can be detected by PCR or virus isolation in the CSF at during the acute stage of illness.
Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).
A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat. Laboratory diagnosis of Trichinella infection is most often made by a Trichinella antibody test. In some cases a muscle biopsy may be performed. More on: Resources for Health Professionals: Diagnosis
How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are not successful, other medications may be given to reduce the body's immune response (medications called immunosuppressants, such as methotrexate). If medications are not effective, surgery may be considered. Cryotherapy has been performed in affected people to remove eye tissue that has inflammation. Although this surgery has been shown to be effective in restoring clarity of vision, there are concerns that it may cause damage to other parts of the eye. Another surgery, known as vitrectomy, can be done to remove cloudy fluid (vitreous humor) from the eye.
Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have - Regurgitation - when blood leaks back through the valve in the wrong direction - Mitral valve prolapse - when one of the valves, the mitral valve, has "floppy" flaps and doesn't close tightly. It's one of the most common heart valve conditions. Sometimes it causes regurgitation. - Stenosis - when the valve doesn't open enough and blocks blood flow Valve problems can be present at birth or caused by infections, heart attacks, or heart disease or damage. The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem. Heart tests can show if you have a heart valve disease. Some valve problems are minor and do not need treatment. Others might require medicine, medical procedures, or surgery to repair or replace the valve. NIH: National Heart, Lung, and Blood Institute
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. In most cases, an affected person has one parent with the condition. As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. Larger repeat expansions are usually associated with an earlier onset of the disorder and more severe signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATN1 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance).
Angiostrongylus cantonensis There is no specific treatment for A. cantonensis infection. There is some evidence that certain supportive treatments may reduce the severity of headache and the duration of symptoms. Persons with symptoms should consult their health care provider for more information. Angiostrongylus costaricensis There is no specific treatment for A. costaricensis infections. Most infections resolve spontaneously though sometime surgical treatment is necessary to removed portions of inflamed intestine. Persons with symptoms should consult their health care provider for more information.
Summary : Cocaine is a white powder. It can be snorted up the nose or mixed with water and injected with a needle. Cocaine can also be made into small white rocks, called crack. Crack is smoked in a small glass pipe. Cocaine speeds up your whole body. You may feel full of energy, happy, and excited. But then your mood can change. You can become angry, nervous, and afraid that someone's out to get you. You might do things that make no sense. After the "high" of the cocaine wears off, you can "crash" and feel tired and sad for days. You also get a strong craving to take the drug again to try to feel better. No matter how cocaine is taken, it is dangerous. Some of the most common serious problems include heart attack and stroke. You are also at risk for HIV/AIDS and hepatitis, from sharing needles or having unsafe sex. Cocaine is more dangerous when combined with other drugs or alcohol. It is easy to lose control over cocaine use and become addicted. Then, even if you get treatment, it can be hard to stay off the drug. People who stopped using cocaine can still feel strong cravings for the drug, sometimes even years later. NIH: National Institute on Drug Abuse
Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy. Mutations in the GALT gene cause classic galactosemia (type I). Most of these genetic changes almost completely eliminate the activity of the enzyme produced from the GALT gene, preventing the normal processing of galactose and resulting in the life-threatening signs and symptoms of this disorder. Another GALT gene mutation, known as the Duarte variant, reduces but does not eliminate the activity of the enzyme. People with the Duarte variant tend to have much milder features of galactosemia. Galactosemia type II results from mutations in the GALK1 gene, while mutations in the GALE gene underlie galactosemia type III. Like the enzyme produced from the GALT gene, the enzymes made from the GALK1 and GALE genes play important roles in processing galactose. A shortage of any of these critical enzymes allows galactose and related compounds to build up to toxic levels in the body. The accumulation of these substances damages tissues and organs, leading to the characteristic features of galactosemia.
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.
Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.
Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. Mutations in either the SLC3A1 gene or SLC7A9 gene disrupt the ability of the protein complex to reabsorb amino acids, which causes the amino acids to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria form. The other amino acids that are reabsorbed by the protein complex do not create crystals when they accumulate in the urine.
Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys. Adrenal insufficiency can be primary or secondary. Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking. Addisons disease affects 110 to 144 of every 1 million people in developed countries.1 Secondary adrenal insufficiency occurs when the pituitary glanda pea-sized gland at the base of the brainfails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. If ACTH output is too low, cortisol production drops. Eventually, the adrenal glands can shrink due to lack of ACTH stimulation. Secondary adrenal insufficiency is much more common than Addisons disease. 1
Summary : Occupational health problems occur at work or because of the kind of work you do. These problems can include - Cuts, broken bones, sprains, and strains - Loss of limbs - Repetitive motion disorders - Hearing problems caused by exposure to noise - Vision problems - Illness caused by breathing, touching, or swallowing unsafe substances - Illness caused by exposure to radiation - Exposure to germs in health care settings Good job safety and prevention practices can reduce your risk of these problems. Try to stay fit, reduce stress, set up your work area properly, and use the right equipment and gear.
What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dens in dente - 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.
People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tract, a kidney stone, or an enlarged prostatethe walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. Urine can also back up, or reflux, into one or both kidneys. This problem, which is called vesicoureteral reflux (VUR), happens when the valve mechanism that normally prevents backward flow of urine is not working properly. VUR is most commonly diagnosed during childhood. Pregnant women and people with diabetes or a weakened immune system are also at increased risk of pyelonephritis.
SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells. ASAH1 gene mutations that cause SMA-PME result in a reduction of acid ceramidase activity to a level less than one-third of normal. Inefficient breakdown of ceramides and impaired production of its breakdown products likely play a role in the nerve cell damage that leads to the features of SMA-PME, but the exact mechanism is unknown.
A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or bleeding. Kidney stones are one of the most common disorders of the urinary tract. Each year in the United States, people make more than a million visits to health care providers and more than 300,000 people go to emergency rooms for kidney stone problems.1 Urolithiasis is the medical term used to describe stones occurring in the urinary tract. Other frequently used terms are urinary tract stone disease and nephrolithiasis. Terms that describe the location of the stone in the urinary tract are sometimes used. For example, a ureteral stoneor ureterolithiasisis a kidney stone found in the ureter.
These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis - Genetic Testing Registry: Multiminicore Disease - MedlinePlus Encyclopedia: Malignant Hyperthermia 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
Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition. MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.
Milroy disease is a rare disorder; its incidence is unknown.
TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. The most important treatable factors linked to TIAs and stroke are high blood pressure, cigarette smoking, heart disease, carotid artery disease, diabetes, and heavy use of alcohol. Medical help is available to reduce and eliminate these factors. Lifestyle changes such as eating a balanced diet, maintaining healthy weight, exercising, and enrolling in smoking and alcohol cessation programs can also reduce these factors.
How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery. Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.
Summary : If you need a mastectomy, you have a choice about whether or not to have surgery to rebuild the shape of the breast. Instead of breast reconstruction, you could choose to wear a breast form that replaces the breast, wear padding inside your bra, or do nothing. All of these options have pros and cons. What is right for one woman may not be right for another. Breast reconstruction may be done at the same time as the mastectomy, or it may be done later on. If radiation therapy is part of the treatment plan, your doctor may suggest waiting until after radiation therapy. If you're thinking about breast reconstruction, talk to a plastic surgeon before the mastectomy, even if you plan to have your reconstruction later on. A surgeon can reconstruct the breast in many ways. Some women choose to have breast implants, which are filled with saline or silicone gel. Another method uses tissue taken from another part of your body. The plastic surgeon can take skin, muscle, and fat from your lower abdomen, back, or buttocks. The type of reconstruction that is best for you depends on your age, body type, and the type of cancer surgery that you had. A plastic surgeon can help you decide. NIH: National Cancer Institute
When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo. A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down. Dizziness usually gets better by itself or is easily treated. However, it can be a symptom of other disorders. Medicines may cause dizziness, or problems with your ear. Motion sickness can also make you dizzy. There are many other causes. If you are dizzy often, you should see your health care provider to find the cause.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to the neurological conditions that cause foot drop in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the kinds of neurological disorders that cause foot drop.
Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.
Summary : Sneezing, sore throat, a stuffy nose, coughing -- everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. What can you do for your cold or cough symptoms? Besides drinking plenty of fluids and getting plenty of rest, you may want to take medicines. There are lots of different cold and cough medicines, and they do different things. - Nasal decongestants - unclog a stuffy nose - Cough suppressants - quiet a cough - Expectorants - loosen mucus so you can cough it up - Antihistamines - stop runny noses and sneezing - Pain relievers - ease fever, headaches, and minor aches and pains Here are some other things to keep in mind about cold and cough medicines. Read labels, because many cold and cough medicines contain the same active ingredients. Taking too much of certain pain relievers can lead to serious injury. Do not give cough medicines to children under four, and don't give aspirin to children. Finally, antibiotics won't help a cold. Food and Drug Administration
The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.
MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation).
These resources address the diagnosis or management of mitochondrial trifunctional protein deficiency: - Baby's First Test - Genetic Testing Registry: Mitochondrial trifunctional protein deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.
The standard method for diagnosing the presence of whipworm is by microscopically identifying whipworm eggs in a stool sample. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.
Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids).
Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis. Symptoms include - Shortness of breath - A dry, hacking cough that doesn't get better - Fatigue - Weight loss for no known reason - Aching muscles and joints - Clubbing, which is the widening and rounding of the tips of the fingers or toes Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant. NIH: National Heart, Lung, and Blood Institute
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.
Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born. Doctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. The tests also can confirm that the doctors have diagnosed the condition correctly. The tests include: Chest x ray. A chest x ray creates a of the structures inside the chest, such as the heart and lungs. This test can show whether your infant has signs of RDS. A chest x ray also can detect problems, such as a collapsed lung, that may require urgent treatment. Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help find out whether an infection is causing the infant's breathing problems. Echocardiography (echo). This test uses sound waves to create a moving picture of the heart. Echo is used to rule out heart defects as the cause of an infant's breathing problems.