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What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chromosomes do not separate when sperm cells are being made. If two Y chromosomes are present in a sperm that fertilizes an egg (with an X chromosome), the resulting embryo will be a male with an extra Y chromosome. It is also possible that a similar random event could occur very early in an embryo's development. It is not fully understood why an extra copy of the Y chromosome leads to an increased risk for the features associated with 47, XYY syndrome in some males. Importantly, there is nothing either parent can do (or not do) to cause or prevent 47, XYY syndrome.
Is genetic testing available for atypical hemolytic-uremic syndrome? GeneTests lists the names of laboratories that are performing genetic testing for atypical hemolytic-uremic syndrome. To view the contact information for the clinical laboratories conducting testing click here and follow the "testing" link pertaining to each gene. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.
How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse. Children with very severe symptoms may need a heart-lung transplant. Adult patients with Eisenmenger syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease.
Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by TN. If medication fails to relieve pain or produces intolerable side effects such as excess fatigue, surgical treatment may be recommended. Several neurosurgical procedures are available. Some are done on an outpatient basis, while others are more complex and require hospitalization. Some patients choose to manage TN using complementary techniques, usually in combination with drug treatment. These techniques include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves.
Call your doctor right away if your symptoms worsen suddenly. People with COPD may have symptoms that suddenly get worse. When this happens, you have a much harder time catching your breath. Symptoms that worsen suddenly can include sudden chest tightness, more coughing, a change in your sputum (mucus), or fever. Your doctor will look at things that may be causing these sudden symptoms. Sometimes the symptoms are caused by a lung infection.
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.
Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.
Juvenile ossifying fibroma (JOF) is rare, benign tumor of the craniofacial (skull and face) bones. It is considered a "fibro-osseous neoplasm" because it is characterized by an overgrowth of bone. Affected people generally experience a gradual or rapid, painless expansion of the affected bone or region. Other symptoms such as exophthalmos or nasal blockage can rarely be associated with the tumor depending on its exact location. In some cases, the condition can be particularly aggressive with rapid growth and significant facial disfigurement. Although the condition can affect people of all ages, it is most commonly diagnosed between the ages of 5 and 15. The exact underlying cause is currently unknown; however, most cases occur sporadically in people with no family history of the condition. JOF is usually treated with surgery. Because the recurrence rate of JOF ranges from 30% to 58%, continued follow-up is essential.
Adiposis dolorosa is a rare condition whose prevalence is unknown. For reasons that are unclear, it occurs up to 30 times more often in women than in men.
Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset neurological symptoms, is a rare disorder. Its prevalence is unknown. However, between 2 and 8 percent of the general population may be vulnerable to toxic reactions to fluoropyrimidine drugs caused by otherwise asymptomatic dihydropyrimidine dehydrogenase deficiency.
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid.
Gastritis is a condition in which the stomachliningknown as the mucosais inflamed, or swollen. The stomach lining contains glands that produce stomach acid and an enzyme called pepsin. The stomach acid breaks down food and pepsin digests protein. A thick layer of mucus coats the stomach lining and helps prevent the acidic digestive juice from dissolving the stomach tissue. When the stomach lining is inflamed, it produces less acid and fewer enzymes. However, the stomach lining also produces less mucus and other substances that normally protect the stomach lining from acidic digestive juice. Gastritis may be acute or chronic: - Acute gastritis starts suddenly and lasts for a short time. - Chronic gastritis is long lasting. If chronic gastritis is not treated, it may last for years or even a lifetime. Gastritis can be erosive or nonerosive: - Erosive gastritis can cause the stomach lining to wear away, causing erosionsshallow breaks in the stomach liningor ulcersdeep sores in the stomach lining. - Nonerosive gastritis causes inflammation in the stomach lining; however, erosions or ulcers do not accompany nonerosive gastritis. A health care provider may refer a person with gastritis to a gastroenterologista doctor who specializes in digestive diseases.
Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.
The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people with this condition have been reported in the medical literature.
The dentist will ask about your medical history to identify any conditions or risk factors such as smoking that may contribute to gum disease. The dentist or hygienist will also - examine your gums and note any signs of inflammation. - use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. - take an x-ray to see whether there is any bone loss. examine your gums and note any signs of inflammation. use a tiny ruler called a 'probe' to check for and measure any periodontal pockets. In a healthy mouth, the depth of these pockets is usually between 1 and 3 millimeters. take an x-ray to see whether there is any bone loss. The dentist or hygienist may also - take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. - refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist. take an x-ray to see whether there is any bone loss and to examine the condition of the teeth and supporting tissues. refer you to a periodontist. Periodontists are experts in the diagnosis and treatment of gum disease and may provide you with treatment options that are not offered by your dentist.
Is multicentric Castleman disease inherited? Although the exact underlying cause of multicentric Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition.
Taeniasis in humans is a parasitic infection caused by the tapeworm species Taenia saginata (beef tapeworm), Taenia solium (pork tapeworm), and Taenia asiatica (Asian tapeworm). Humans can become infected with these tapeworms by eating raw or undercooked beef (T. saginata) or pork (T. solium and T. asiatica). People with taeniasis may not know they have a tapeworm infection because symptoms are usually mild or nonexistent. T. solium tapeworm infections can lead to cysticercosis, which is a disease that can cause seizures, so it is important seek treatment.
Summary : Prenatal testing provides information about your baby's health before he or she is born. Some routine tests during pregnancy also check on your health. At your first prenatal visit, your healthcare provider will test for a number of things, including problems with your blood, signs of infections, and whether you are immune to rubella (German measles) and chickenpox. Throughout your pregnancy, your healthcare provider may suggest a number of other tests, too. Some tests are suggested for all women, such as screenings for gestational diabetes, Down syndrome, and HIV. Other tests might be offered based on your: - Age - Personal or family health history - Ethnic background - Results of routine tests Some tests are screening tests. They detect risks for or signs of possible health problems in you or your baby. Based on screening test results, your doctor might suggest diagnostic tests. Diagnostic tests confirm or rule out health problems in you or your baby. Dept. of Health and Human Services Office on Women's Health
These resources address the diagnosis or management of galactosemia: - Baby's First Test: Classic Galactosemia - Baby's First Test: Galactoepimerase Deficiency - Baby's First Test: Galactokinase Deficiency - Gene Review: Gene Review: Classic Galactosemia and Clinical Variant Galactosemia - Gene Review: Gene Review: Duarte Variant Galactosemia - Gene Review: Gene Review: Epimerase Deficiency Galactosemia - Genetic Testing Registry: Galactosemia - MedlinePlus Encyclopedia: Galactose-1-phosphate uridyltransferase - MedlinePlus Encyclopedia: Galactosemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
X-linked hypophosphatemic rickets is the most common form of rickets that runs in families. It affects about 1 in 20,000 newborns. Each of the other forms of hereditary hypophosphatemic rickets has been identified in only a few families.
Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals.
How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionally, in cases of chronic or relapsing sialadenitis, a superficial parotidectomy or submandibular gland excision is needed.
Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner.
The prevalence of CATSPER1-related nonsyndromic male infertility is unknown.
These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria 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
Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns
What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey disease. 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) Abnormal blistering of the skin 90% Abnormality of the oral cavity 90% Acantholysis 90% Hyperkeratosis 90% Skin ulcer 90% Autosomal dominant inheritance - Erythema - 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.
What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins. The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction. Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction. Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this disease.
Decisions about treatment of loiasis can be difficult and often require advice from an expert in infectious diseases or tropical medicine. Although surgical removal of adult worms moving under the skin or across the eye can be done to relieve anxiety, loiasis is not cured by surgery alone. There are two medications that can be used to treat the infection and manage the symptoms. The treatment of choice is diethylcarbamazine (DEC), which kills the microfilariae and adult worms. Albendazole is sometimes used in patients who are not cured with multiple DEC treatments. It is thought to kill adult worms. Certain people with heavy infections are at risk of brain inflammation when treated with DEC. This can cause coma or sometimes death. People with heavy infections need to be treated by experienced specialists. Sometimes, other medical conditions need to be addressed first in order to make it safer to use DEC. Sometimes treatment is not recommended. More on: Resources for Health Professionals: Treatment
- Whipple disease is a rare bacterial infection that primarily affects the small intestine. Left untreated, Whipple disease gets worse and is usually life threatening. - Bacteria called Tropheryma whipplei (T. whipplei) cause Whipple disease. T. whipplei infection can cause internal sores, also called lesions, and thickening of tissues in the small intestine. - Anyone can get Whipple disease. However, it is more common in Caucasian men between 40 and 60 years old. - Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are - diarrhea - weight loss caused by malabsorption - People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. - The health care provider prescribes antibiotics to destroy the T. whipplei bacteria and treat Whipple disease. - The health care provider usually prescribes intravenous (IV) antibiotics for the first 2 weeks of treatment. Most patients feel relief from symptoms within the first week or two. - After a patient completes the IV antibiotics, the health care provider will prescribe long-term oral antibiotics. - Most patients have good outcomes with an early diagnosis and complete treatment.
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.
Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It may also be found in the legs, trunk, head or neck regions. It is rare in young children and adults, and it occurs more frequently in men. Epithelioid sarcoma begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth. It is considered an aggressive cancer because it has a high chance of regrowing after treatment (a recurrence), or spreading to surrounding tissues or more distant parts of the body (a metastasis). Epithelioid sarcoma is first treated with surgery to remove all the cancer cells (wide local excision). Amputation of part of the affected limb may be needed in severe cases. Radiation therapy or chemotherapy may also be used to destroy any cancer cells not removed during surgery.
To prevent kidney stones, health care providers and their patients must understand what is causing the stones to form. Especially in children with suspected metabolic abnormalities or with recurrent stones, a 24-hour urine collection is obtained to measure daily urine volume and to determine if any underlying mineral abnormality is making a child more likely to form stones. Based on the analysis of the collected urine, the treatment can be individualized to address a metabolic problem. In all circumstances, children should drink plenty of fluids to keep the urine diluted and flush away substances that could form kidney stones. Urine should be almost clear.
What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. When itching is severe, topical corticosteroids, tar preparations, and antihistamines may provide relief without changing the course of the disease. In adult patients, administration of methotrexate and oral tetracycline has led to good results; however, these medications are inappropriate for first-line treatment in young children. In addition to tetracycline, erythromycin is another antibiotic that is commonly used to treat pityriasis lichenoides. Sunlight is helpful, and excellent therapeutic responses to UVB phototherapy are documented. UVB therapy is more difficult in young children, and there is little data regarding the long-term risks of phototherapy in the pediatric population. It is difficult to interpret the results of formal therapy evaluations because of the frequency of spontaneous remissions.
Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for soft tissue sarcoma include the following inherited disorders: - Retinoblastoma. - Neurofibromatosis type 1 (NF1; von Recklinghausen disease). - Tuberous sclerosis (Bourneville disease). - Familial adenomatous polyposis (FAP; Gardner syndrome). - Li-Fraumeni syndrome. - Werner syndrome (adult progeria). - Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Other risk factors for soft tissue sarcoma include the following: - Past treatment with radiation therapy for certain cancers. - Being exposed to certain chemicals, such as Thorotrast (thorium dioxide), vinyl chloride, or arsenic. - Having swelling (lymphedema) in the arms or legs for a long time.
Marijuana is the most abused illicit drug among people 50 and older.
Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
The cause of most childhood brain tumors is unknown.
Though many people are afraid of spiders, they rarely bite people unless threatened. Most spider bites are harmless. Occasionally, spider bites can cause allergic reactions. And bites by the venomous black widow and brown recluse spiders can be very dangerous to people. If you are bitten by a spider, you may see a reaction similar to that of a bee sting, including redness, pain and swelling at the site. To treat a spider bite: - Wash the area well with soap and water - Apply an ice pack or a wet compress to the area - Take over-the-counter pain medicine, if needed - Consider using antihistamines for severe swelling - Seek medical treatment for small children and adults with severe symptoms
Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.
Physicians may consider the diagnosis if the patient's history and physical examination suggest botulism. However, these clues are usually not enough to allow a diagnosis of botulism. Other diseases such as Guillain-Barré syndrome, stroke, and myasthenia gravis can appear similar to botulism, and special tests may be needed to exclude these other conditions. These tests may include a brain scan, spinal fluid examination, nerve conduction test (electromyography, or EMG), and a tensilon test for myasthenia gravis. Tests for botulinum toxin and for bacteria that cause botulism can be performed at some state health department laboratories and at CDC.
Infertility means not being able to get pregnant after at least one year of trying (or 6 months if the woman is over age 35). If a woman keeps having miscarriages, it is also called infertility. Female infertility can result from age, physical problems, hormone problems, and lifestyle or environmental factors. Most cases of infertility in women result from problems with producing eggs. In premature ovarian failure, the ovaries stop functioning before natural menopause. In polycystic ovary syndrome (PCOS), the ovaries may not release an egg regularly or they may not release a healthy egg. About a third of the time, infertility is because of a problem with the woman. One third of the time, it is a problem with the man. Sometimes no cause can be found. If you think you might be infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technologies. Happily, many couples treated for infertility are able to have babies. Dept. of Health and Human Services Office on Women's Health
Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence. Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life. Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.
There are many disorders that can cause dementia. Some, such as Alzheimers disease or Huntingtons disease, lead to a progressive loss of mental functions. But other types of dementia can be halted or reversed with appropriate treatment. People with moderate or advanced dementia typically need round-the-clock care and supervision to prevent them from harming themselves or others. They also may need assistance with daily activities such as eating, bathing, and dressing.
The prevalence of warfarin sensitivity is unknown. However, it appears to be more common in people who are older, those with lower body weights, and individuals of Asian ancestry. Of the approximately 2 million people in the U.S. who are prescribed warfarin annually, 35,000 to 45,000 individuals go to hospital emergency rooms with warfarin-related adverse drug events. While it is unclear how many of these events are due to warfarin sensitivity, the most common sign is excessive internal bleeding, which is often seen when individuals with warfarin sensitivity are given too much of the medication.
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17. All forms are inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
The prognosis for central cord syndrome varies, but most people whose syndrome is caused by trauma have some recovery of neurological function. Evaluation of abnormal signals on MRI images can help predict he likelihood that neurological recovery may occur naturally. Those who receive medical intervention soon after their injury often have good outcomes. Many people with the disorder recover substantial function after their initial injury, and the ability to walk is recovered in most cases, although some impairment may remain. Improvement occurs first in the legs, then the bladder, and may be seen in the arms. Hand function recovers last, if at all. Recovery is generally better in younger patients, compared to those over the age of 50.
- Kidney failure means your kidneys no longer work well enough to do their job. - Learning about treatments for kidney failure will help you choose the one that best fits your lifestyle. - Many people with kidney failure continue to work. - Physical activity is an important part of staying healthy when you have kidney failure. - You can help prevent relatives from having kidney failure by talking with them about their risk. - Eating the right foods can help you feel better when you are on dialysis or have a kidney transplant.
Tuberous sclerosis complex affects about 1 in 6,000 people.
By 5 years of age, more than 90 percent of children can control urination during the day. Nighttime wetting is more common than daytime wetting in children, affecting 30 percent of 4-year-olds. The condition resolves itself in about 15 percent of children each year; about 10 percent of 7-year-olds, 3 percent of 12-year-olds, and 1 percent of 18-year-olds continue to experience nighttime wetting.1
These resources address the diagnosis or management of transthyretin amyloidosis: - Boston University: Amyloid Treatment & Research Program - Gene Review: Gene Review: Familial Transthyretin Amyloidosis - Genetic Testing Registry: Amyloidogenic transthyretin amyloidosis - MedlinePlus Encyclopedia: Autonomic 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
Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures.
Complications of IgA nephropathy include - high blood pressure - acute kidney failuresudden and temporary loss of kidney function - chronic kidney failurereduced kidney function over a period of time - nephrotic syndromea collection of symptoms that indicate kidney damage; symptoms include albuminuria, lack of protein in the blood, and high blood cholesterol levels - heart or cardiovascular problems - Henoch-Schnlein purpura More information is provided in the NIDDK health topics, Kidney Disease and Kidney Failure.
A polyp is an extra piece of tissue that grows inside your body. Colonic polyps grow in the large intestine, or colon. Most polyps are not dangerous. However, some polyps may turn into cancer or already be cancer. To be safe, doctors remove polyps and test them. Polyps can be removed when a doctor examines the inside of the large intestine during a colonoscopy. Anyone can get polyps, but certain people are more likely than others. You may have a greater chance of getting polyps if you - Are over age 50 - Have had polyps before - Have a family member with polyps - Have a family history of colon cancer Most colon polyps do not cause symptoms. If you have symptoms, they may include blood on your underwear or on toilet paper after a bowel movement, blood in your stool, or constipation or diarrhea lasting more than a week. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner.
How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an affected individual, or it may be inherited from an affected parent. Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Congenital radio-ulnar synostosis may also occur with a variety of other abnormalities and may be associated with a chromosome abnormality or genetic syndrome. In these cases, the inheritance pattern may depend upon that of the underlying genetic abnormality. Some genetic abnormalities that have been reported in association with this condition include Apert syndrome, Carpenter syndrome, arthrogryposis, Treacher Collins syndrome, Williams syndrome, Klinefelter syndrome, and Holt-Oram syndrome. Congenital radio-ulnar synostosis may also occur sporadically as an isolated abnormality, in which case the cause may be unknown.
Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families.
Nager syndrome is a rare condition, although its prevalence is unknown. More than 75 cases have been reported in the medical literature.
What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the skin - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the disorder in their family. A few studies have suggested that EKVP can also have an autosomal recessive pattern of inheritance. However, this inheritance pattern has only been reported in a small number of affected families, and not all researchers agree that it is truly autosomal recessive. Autosomal recessive inheritance means both copies of a 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 multiple sclerosis: - Gene Review: Gene Review: Multiple Sclerosis Overview - Multiple Sclerosis Association of America: Treatments for MS - Multiple Sclerosis International Federation: About MS--Diagnosis - National Multiple Sclerosis Society: Diagnosing Tools 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
Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposited in many different tissues and organs of the body. While LCDD can occur in any organ, the kidneys are always involved. Deposits of light chains can also occur in the liver, heart, small intestine, spleen, skin, nervous system and bone marrow. Additionally, about 50-60% of patients with LCDD have multiple myeloma and 17% have a disease called monoclonal gammopathy of unknown significance (MGUS). Early signs and symptoms of light chain deposition disease may include protein in the urine, high blood pressure, decreased kidney function, and nephrotic syndrome. The goal of treatment in patients with LCDD is to stop/decrease the production of light chains and damage to organs. Treatment options can include: autologous stem cell transplantation; a drug called Bortezomib; a class of drugs called immunomodulatory drugs; and kidney transplant.
Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people aged 20 to 40 years. Treatment may involve medications to suppress the immune system, dialysis, or a kidney transplant. Visit our Web page on lupus for more information and resources.
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.
Some people with an alcohol use disorder are treated in a facility, such as a hospital, mental health center, or substance abuse clinic. Treatment may last as long as several weeks. This type of treatment typically involves detoxification (when a person is weaned from alcohol), medicine, and counseling. Learn more about treatment settings for alcohol problems. Use the Behavioral Health Treatment Services Locator to find a treatment facility.
Summary : You can't see radon. And you can't smell it or taste it. But it may be a problem in your home. Radon comes from the natural breakdown of uranium in soil, rock, and water. Radon is the second leading cause of lung cancer in the United States. There are low levels of radon outdoors. Indoors, there can be high levels. Radon can enter homes and buildings through cracks in floors, walls, or foundations. Radon can also be in your water, especially well water. Testing is the only way to know if your home has elevated radon levels. It is inexpensive and easy. You can buy a test kit at most hardware stores or hire someone to do a test. Radon reduction systems can bring the amount of radon down to a safe level. The cost depends on the size and design of your home.
Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.
Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. The resulting uncontrolled cell growth leads to the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome. A small percentage of people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.
Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene provides instructions for producing an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme is involved in the conversion (metabolism) of vitamin B6 derived from food (in the form of pyridoxine and pyridoxamine) to the active form of vitamin B6 called pyridoxal 5'-phosphate (PLP). PLP is necessary for many processes in the body including protein metabolism and the production of chemicals that transmit signals in the brain (neurotransmitters). PNPO gene mutations result in a pyridoxine 5'-phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP. A shortage of PLP can disrupt the function of many other proteins and enzymes that need PLP in order to be effective. It is not clear how the lack of PLP affects the brain and leads to the seizures that are characteristic of pyridoxal 5'-phosphate-dependent epilepsy.
Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal dominant conditions, an affected person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with the condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
There are many researchers who are working on kidney disease. They are looking for ways to improve diagnosis, make treatments more effective, and make dialysis and transplantation work better. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Another focus is on the interaction between diabetes, kidney disease, and cardiovascular disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention.
Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS supports and conducts fundamental studies that explore the complex mechanisms of normal brain development and to better understand neurological conditions such as ESS. The knowledge gained from these fundamental studies helps researchers understand neurodevelopment and provides opportunities to more effectively treat and perhaps even prevent, such disorders.
Yes. Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. A man's risk for developing prostate cancer is higher if his father or brother has had the disease. Diet also may play a role. There is some evidence that a diet high in animal fat may increase the risk of prostate cancer and a diet high in fruits and vegetables may decrease the risk. Studies to find out whether men can reduce their risk of prostate cancer by taking certain dietary supplements are ongoing.
Doctors use tests to detect prostate abnormalities, but tests cannot show whether abnormalities are cancer or another, less serious condition. The results from these tests will help the doctor decide whether to check the patient further for signs of cancer. The most common test is a blood test for prostate specific antigen or PSA -- a lab measures the levels of PSA in a blood sample. The level of PSA may rise in men who have prostate cancer, an enlarged prostate, or infection in the prostate.
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, or X-linked (each of which is described below). Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.
Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure. There are two forms of PRS superactivity, a severe form that begins in infancy or early childhood, and a milder form that typically appears in late adolescence or early adulthood. In both forms, a kidney or bladder stone is often the first symptom. Gout and impairment of kidney function may develop if the condition is not adequately controlled with medication and dietary restrictions. People with the severe form may also have neurological problems, including hearing loss caused by changes in the inner ear (sensorineural hearing loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay.
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.
Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals.
Summary : Tobacco use is the most common preventable cause of death. About half of the people who don't quit smoking will die of smoking-related problems. Quitting smoking is important for your health. Soon after you quit, your circulation begins to improve, and your blood pressure starts to return to normal. Your sense of smell and taste return, and it's easier for you to breathe. In the long term, giving up tobacco can help you live longer. Your risk of getting cancer decreases with each year you stay smoke-free. Quitting is not easy. You may have short-term affects such as weight gain, irritability, and anxiety. Some people try several times before they succeed. There are many ways to quit smoking. Some people stop "cold turkey." Others benefit from step-by-step manuals, counseling, or medicines or products that help reduce nicotine addiction. Some people think that switching to e-cigarettes can help you quit smoking, but that has not been proven. Your health care provider can help you find the best way for you to quit. NIH: National Cancer Institute
How might branchiootorenal syndrome be treated? Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologist (kidney doctor). Treatment of hearing loss may include determining which aids would be most helpful, for example hearing aids or vibrotactile devices; cochlear implantation may be considered in children over age 12 months with severe-to-profound hearing loss. Early hearing intervention through amplification, surgery, or cochlear implantation may be recommended for children who are at risk to lose their hearing before they learn to speak. People with hereditary hearing loss often require regular follow-up with a hearing specialist such as an audiologist to monitor stability or progression of the hearing loss. Treatment of branchial fistulae or cysts may require surgery. For people with branchiootorenal syndrome and severe kidney malformations or complications, dialysis or kidney transplant may be required.
CKD usually takes a long time to develop and does not go away. In CKD, the kidneys continue to workjust not as well as they should. Wastes may build up so gradually that the body becomes used to having those wastes in the blood. Salts containing phosphorus and potassium may rise to unsafe levels, causing heart and bone problems. Anemialow red blood cell countcan result from CKD because the kidneys stop making enough erythropoietin, a hormone that causes bone marrow to make red blood cells. After months or years, CKD may progress to permanent kidney failure, which requires a person to have a kidney transplant or regular blood filtering treatments called dialysis.
The signs and symptoms of respiratory failure depend on its underlying cause and the levels of oxygen and carbon dioxide in the blood. A low oxygen level in the blood can cause shortness of breath and air hunger (feeling like you can't breathe in enough air). If the level of oxygen is very low, it also can cause a bluish color on the skin, lips, and fingernails. A high carbon dioxide level can cause rapid breathing and confusion. Some people who have respiratory failure may become very sleepy or lose consciousness. They also may develop arrhythmias (ah-RITH-me-ahs), or irregular heartbeats. These symptoms can occur if the brain and heart are not getting enough oxygen.
These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedia: Arachnodactyly - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities 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 cause of most childhood extracranial germ cell tumors is unknown.
Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner.
- Henoch-Schnlein purpura (HSP) is a disease that causes small blood vessels in the body to become inflamed and leak. - HSP is caused by an abnormal immune system response in which the bodys immune system attacks the bodys own cells and organs. The factors that cause this immune system response are not known. - The symptoms of HSP include the following: - rash - digestive tract problems - arthritis - kidney involvement - In children, the risk of kidney damage leading to long-term problems may be as high as 15 percent, but kidney failure affects only about 1 percent of children with HSP. Up to 40 percent of adults with HSP will have CKD or kidney failure within 15 years after diagnosis. - A diagnosis of HSP is suspected when a person has the characteristic rash and one of the following: - abdominal pain - joint pain - antibody deposits on the skin - hematuria or proteinuria - Antibody deposits on the skin can confirm the diagnosis of HSP. - No specific treatment for HSP exists. The main goal of treatment is to relieve symptoms such as joint pain, abdominal pain, and swelling. People with kidney involvement may receive treatment aimed at preventing long-term kidney disease.
After an incubation period of 3-8 days, the symptoms of KFD begin suddenly with chills, fever, and headache. Severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems may occur 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure, and low platelet, red blood cell, and white blood cell counts. After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients (10-20%) who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and signs of neurological manifestations, such as severe headache, mental disturbances, tremors, and vision deficits. The estimated case-fatality rate is from 3 to 5% for KFD.
These resources address the diagnosis or management of von Willebrand disease: - Gene Review: Gene Review: von Willebrand Disease - Genetic Testing Registry: von Willebrand disorder - MedlinePlus Encyclopedia: von Willebrand Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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.
- Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. - Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including infants and children, pregnant women and their fetuses, older adults, and people with weakened immune systems. - Symptoms of foodborne illnesses depend on the cause. Common symptoms of many foodborne illnesses include vomiting, diarrhea or bloody diarrhea, abdominal pain, fever, and chills. - Foodborne illnesses may lead to dehydration, hemolytic uremic syndrome (HUS), and other complications. Acute foodborne illnesses may also lead to chronicor long lastinghealth problems. - The only treatment needed for most foodborne illnesses is replacing lost fluids and electrolytes to prevent dehydration. - Foodborne illnesses can be prevented by properly storing, cooking, cleaning, and handling foods.
There are no known risk factors for childhood craniopharyngioma. Craniopharyngiomas are rare in children younger than 2 years of age and are most often diagnosed in children aged 5 to 14 years. It is not known what causes these tumors.
These resources address the diagnosis or management of prekallikrein deficiency: - Genetic Testing Registry: Prekallikrein deficiency - Massachusetts General Hospital Laboratory Handbook: Prekallikrein 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
Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males.
These resources address the diagnosis or management of otopalatodigital syndrome type 2: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type II 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
Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide.
Alzheimers disease is a brain disease that slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks. It begins slowly and gets worse over time. Currently, it has no cure. Alzheimers disease is the most common cause of dementia in older people. Get more details about Alzheimer's disease.
Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.