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Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands. Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.
Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery.
How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy.
How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.
Hemolytic uremic syndrome, or HUS, is a kidney condition that happens when red blood cells are destroyed and block the kidneys' filtering system. Red blood cells contain hemoglobinan iron-rich protein that gives blood its red color and carries oxygen from the lungs to all parts of the body. When the kidneys and glomerulithe tiny units within the kidneys where blood is filteredbecome clogged with the damaged red blood cells, they are unable to do their jobs. If the kidneys stop functioning, a child can develop acute kidney injurythe sudden and temporary loss of kidney function. Hemolytic uremic syndrome is the most common cause of acute kidney injury in children.
Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that trigger a reaction.
Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth.
Sexually transmitted diseases (STDs) are infections that you can get from having sex with someone who has the infection. The causes of STDs are bacteria, parasites and viruses. There are more than 20 types of STDs, including - Chlamydia - Gonorrhea - Genital herpes - HIV/AIDS - HPV - Syphilis - Trichomoniasis Most STDs affect both men and women, but in many cases the health problems they cause can be more severe for women. If a pregnant woman has an STD, it can cause serious health problems for the baby. If you have an STD caused by bacteria or parasites, your health care provider can treat it with antibiotics or other medicines. If you have an STD caused by a virus, there is no cure. Sometimes medicines can keep the disease under control. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading STDs. Centers for Disease Control and Prevention
How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy. Speech therapy may be recommended for children with dysarthria. Medications may be prescribed to help prevent and/or control recurrent seizures. Children with mild to moderate intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.
What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
The NINDS supports research on congenital disorders such as KTS with the goal of finding new means to treat and prevent them.
GAN generally progresses slowly as neurons degenerate and die. Most children have problems with walking in the early stages of the disorder. Later they may lose sensation, coordination, strength, and reflexes in their arms and legs. As time goes on, the brain and spinal cord may become involved, causing a gradual decline in mental function, loss of control of body movement, and seizures. Most children become wheelchair dependent in the second decade of life. Some children may survive into early adulthood.
What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection between morphea and infection, such as measles or chickenpox, but recent research doesn't support this theory. Other factors that may be associated with the onset of morphea include radiation therapy or repeated trauma to the affected area.
The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape. Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum). Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.
These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 6 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 7 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 8 - Genetic Testing Registry: Late-infantile neuronal ceroid lipofuscinosis - Genetic Testing Registry: Neuronal ceroid lipofuscinosis 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 Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. Because this syndrome occurs mostly in females, it is possible that this condition has X-linked dominant inheritance. The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth.
What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the head - Abnormality of the vertebral column - Autosomal dominant inheritance - Chordoma - 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.
These resources address the diagnosis or management of recombinant 8 syndrome: - Genetic Testing Registry: Recombinant chromosome 8 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
Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.
VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell growth and division and helping cells stick to one another (cell adhesion). The hSPCA1 protein appears to be particularly important for the normal function of cells called keratinocytes, which are found in the outer layer of the skin (the epidermis). Mutations in the ATP2C1 gene reduce the amount of functional hSPCA1 protein in cells. This abnormality impairs cells' ability to store calcium normally. For unknown reasons, this abnormal calcium storage affects keratinocytes more than other types of cells. The abnormal regulation of calcium impairs many cell functions, including cell adhesion. As a result, keratinocytes do not stick tightly to one another, which causes the epidermis to become fragile and less resistant to minor trauma. Because the skin is easily damaged, it develops raw, blistered areas, particularly in skin folds where there is moisture and friction.
These resources address the diagnosis or management of warfarin sensitivity: - Food and Drug Administration Medication Guide - MedlinePlus Drugs & Supplements: Warfarin - My46 Trait Profile - PharmGKB - WarfarinDosing.org 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
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements. New ways to prevent colorectal cancer are being studied in clinical trials. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for colon cancer prevention trials or rectal cancer prevention trials that are now accepting patients.
Spondylothoracic dysostosis affects about one in 200,000 people worldwide. However, it is much more common in people of Puerto Rican ancestry, affecting approximately one in 12,000 people.
Can diffuse gastric cancer be inherited? Diffuse gastric cancer can be inherited or can happen sporadically in a family. Sporadic means that the cancer occurred randomly for the first time in a individual and was not inherited from a parent. Hereditary diffuse gastric cancer (HDGC) is caused by mutations in the CDH1 gene. Individuals with a CDH1 mutation typically develop cancer before age 40.
How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene. It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency: - Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases - May involve chronic illness, disability, and often premature death - Often have no treatment or not very effective treatment - Are frequently not diagnosed correctly - Are often very complex - Are often caused by changes in genes It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health
How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.
How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects.
Summary : Normally, your cells grow and die in a controlled way. Cancer cells keep forming without control. Chemotherapy is drug therapy that can kill these cells or stop them from multiplying. However, it can also harm healthy cells, which causes side effects. During chemotherapy you may have no side effects or just a few. The kinds of side effects you have depend on the type and dose of chemotherapy you get. Side effects vary, but common ones are nausea, vomiting, tiredness, pain and hair loss. Healthy cells usually recover after chemotherapy, so most side effects gradually go away. Your course of therapy will depend on the cancer type, the chemotherapy drugs used, the treatment goal and how your body responds. You may get treatment every day, every week or every month. You may have breaks between treatments so that your body has a chance to build new healthy cells. You might take the drugs by mouth, in a shot or intravenously. NIH: National Cancer Institute
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells recognize foreign invaders, such as viruses, bacteria, and fungi, and are then turned on (activated) to attack these invaders in order to prevent infection and illness. Because males with XMEN do not have enough functional T cells, they have frequent infections, such as ear infections, sinus infections, and pneumonia. In particular, affected individuals are vulnerable to the Epstein-Barr virus (EBV). EBV is a very common virus that infects more than 90 percent of the general population and in most cases goes unnoticed. Normally, after initial infection, EBV remains in the body for the rest of a person's life. However, the virus is generally inactive (latent) because it is controlled by T cells. In males with XMEN, however, the T cells cannot control the virus, and EBV infection can lead to cancers of immune system cells (lymphomas). The word "neoplasia" in the condition name refers to these lymphomas; neoplasia is a general term meaning abnormal growths of tissue. The EBV infection itself usually does not cause any other symptoms in males with XMEN, and affected individuals may not come to medical attention until they develop lymphoma.
Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy.
Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.
Hemorrhoids are swollen, inflamed veins around the anus or lower rectum. They are either inside the anus or under the skin around the anus. They often result from straining to have a bowel movement. Other factors include pregnancy, aging and chronic constipation or diarrhea. Hemorrhoids are very common in both men and women. About half of all people have hemorrhoids by age 50. The most common symptom of hemorrhoids inside the anus is bright red blood covering the stool, on toilet paper or in the toilet bowl. Symptoms usually go away within a few days. If you have rectal bleeding you should see a doctor. You need to make sure bleeding is not from a more serious condition such as colorectal or anal cancer. Treatment may include warm baths and a cream or other medicine. If you have large hemorrhoids, you may need surgery and other treatments. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 protein, which is found throughout the nervous system on the surface of nerve cells (neurons). The L1 protein plays a role in the development and organization of neurons, the formation of the protective sheath (myelin) that surrounds certain neurons, and the formation of junctions between nerve cells (synapses), where cell-to-cell communication occurs. Mutations in the L1 protein can interfere with these developmental processes. Research suggests that a disruption in the development and function of neurons causes the signs and symptoms of L1 syndrome.
Summary : E-cigarettes, or electronic cigarettes, are battery-operated smoking devices. They often look like cigarettes, but work differently. Using an e-cigarette is called vaping. The user puffs on the mouthpiece of a cartridge. This causes a vaporizer to heat the liquid inside the cartridge. The liquid contains nicotine, flavorings, and other chemicals. The heated liquid turns into the vapor that is inhaled. Some people think that e-cigarettes are safer than cigarettes, and that they can be used to help people quit smoking. But not much is known about the health risks of using them, or whether they do help people quit smoking. However we do know about some dangers of e-cigarettes: - They contain nicotine, which is addictive - They contain other potentially harmful chemicals - There is a link between e-cigarette use and tobacco cigarette use in teens - The liquid in e-cigarettes can cause nicotine poisoning if someone drinks, sniffs, or touches it NIH: National Institute on Drug Abuse
Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they may track below the normal growth curves for head circumference. Some children may have only mild disability, while those with more severe cases may face significant learning disabilities, cognitive delays, or develop other neurological disorders. Many, if not most, cases if Zika microcephaly will be very severe, possibly requiring lifelong intensive care.
Some health departments test shellfish harvested within their jurisdiction to monitor the level of dinoflagellate toxins and asses the risk for contamination. Based on the results of such testing, recreational and commercial seafood harvesting may be prohibited locally during periods of risk. State and federal regulatory agencies monitor reported cases of marine toxin poisoning, and health departments investigate possible outbreaks and devise control measures. The Centers for Disease Control and Prevention (CDC) provides support to investigators as needed.
These resources address the diagnosis or management of Buschke-Ollendorff syndrome: - Genetic Testing Registry: Dermatofibrosis lenticularis disseminata 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
Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.
18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals. Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to severe, but some affected individuals have normal intelligence and development. Seizures, hyperactivity, aggression, and autistic behaviors that affect communication and social interaction may also occur. Some people with 18q deletion syndrome have a loss of tissue called white matter in the brain and spinal cord (leukodystrophy), structural abnormalities of the brain, or an abnormally small head size (microcephaly). Other features that are common in 18q deletion syndrome include short stature, weak muscle tone (hypotonia), narrow auditory canals leading to hearing loss, and limb abnormalities such as foot deformities and thumbs that are positioned unusually close to the wrist. Some affected individuals have mild facial differences such as deep-set eyes, a flat or sunken appearance of the middle of the face (midface hypoplasia), a wide mouth, and prominent ears; these features are often not noticeable except in a detailed medical evaluation. Eye movement disorders and other vision problems, genital abnormalities, heart disease, and skin problems may also occur in this disorder.
Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (lipid) molecules, a process known as lipid homeostasis. The gene mutations that cause this condition lead to an altered C19orf12 protein that likely has little or no function. It is unclear how these genetic changes lead to the neurological problems associated with MPAN. Researchers are working to determine whether there is a link between problems with lipid homeostasis and brain iron accumulation and how these abnormalities might contribute to the features of this disorder.
Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals. Mutations in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.
Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The age of the patient. - Whether the cancer has spread to the brain or spinal cord. - Whether there are certain changes in the genes, including the Philadelphia chromosome. - Whether the cancer has been treated before or has recurred (come back).
Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a few cases outside this population have been found.
Dermatitis herpetiformis is characterized by small, clustered papules and vesicles that erupt symmetrically on the elbows, knees, buttocks, back, or scalp. The face and groin can also be involved. A burning sensation may precede lesion formation. Lesions are usually scratched off by the time a patient comes in for a physical exam, and the rash may appear as erosions and excoriations. Patients with DH may also experience dental enamel defects to permanent teeth, which is another manifestation of celiac disease. Less than 20 percent of people with DH have symptoms of celiac disease.3
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.
The stomach, duodenum, and pancreas are digestive organs that break down food and liquid. - The stomach stores swallowed food and liquid. The muscle action of the lower part of the stomach mixes the food and liquid with digestive juice. Partially digested food and liquid slowly move into the duodenum and are further broken down. - The duodenum is the first part of the small intestinethe tube-shaped organ between the stomach and the large intestinewhere digestion of the food and liquid continues. - The pancreas is an organ that makes the hormone insulin and enzymes for digestion. A hormone is a natural chemical produced in one part of the body and released into the blood to trigger or regulate particular functions of the body. Insulin helps cells throughout the body remove glucose, also called sugar, from blood and use it for energy. The pancreas is located behind the stomach and close to the duodenum.
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood.
How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.
What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis.
An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder. In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.
Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms may include fluid-filled sores; red lesions that resemble hives; and itchiness, redness and burning. The exact cause of this disease is not known, but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.
Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone. Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function). The cause of the condition is currently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion. Optimal treatment for the disease is largely unknown. There have been case reports describing treatment of Ribbing disease with bisphosphonate pamidronate. Results have been mixed. The condition often resolves on its own; however cases of progressive disease have been described.
What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. Mutations in RARS2 were also identified in one case with PCH1. In general, there is no known genetic cause for the majority of PCH1 cases and no other genes have been linked to PCH1 yet, with the exception of rare cases associated with TSEN54, RARS2 and VRK1 mutations. In fact, only fifteen families with PCH1 have been published thus far; of these, mutations were only identified in 3 families. Further research on these and other candidate genes in PCH1 is necessary to identify mutations involved in the remaining majority of the PCH1 cases.Specific mutations in other genes have been shown to cause the various other forms of pontocerebellar hypoplasia and include the RARS2, TSEN2, TSEN34, and TSEN54 genes. Mutations in three related genes, TSEN2, TSEN34, and TSEN54, can result in PCH2. TSEN54 gene mutations can also cause PCH4 and PCH5.[2951] Mutations in the RARS2 gene can cause PCH6. The genetic cause of PCH3 is unknown.
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent.
Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 19p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 19p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 19. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well.
Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get them on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people with psoriasis have psoriatic arthritis. It causes pain, stiffness, and swelling of the joints. It is often mild, but can sometimes be serious and affect many joints. The joint and skin problems don't always happen at the same time. Your doctor will do a physical exam and imaging tests to diagnose psoriatic arthritis. There is no cure, but medicines can help control inflammation and pain. In rare cases, you might need surgery to repair or replace damaged joints.
The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia.
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The disease involves the legs more than the arms. It usually starts in childhood or adolescence, but in some cases not until adulthood. Difficulty speaking develops over time. Other symptoms may include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. The earlier the onset the more severe the disease is. The diagnosis is made in persons who had the characteristic abnormalities observed on brain and spinal cord MRI scans and with the genetic test identifiying the DARS2 gene alteration (mutation). There is still no cure and treatment is supportive and includes physical therapy and rehabilitation to improve movement function, and the following as needed: antiepileptic drugs, special education and speech therapy.
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.
Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Infants with SCID typically grow much more slowly than healthy children and experience pneumonia, chronic diarrhea, and widespread skin rashes. Without successful treatment to restore immune function, children with SCID usually do not survive past early childhood. About two-thirds of individuals with purine nucleoside phosphorylase deficiency have neurological problems, which may include developmental delay, intellectual disability, difficulties with balance and coordination (ataxia), and muscle stiffness (spasticity). People with purine nucleoside phosphorylase deficiency are also at increased risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs.
What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. This loss of brain cells leads to the signs and symptoms of GSS.
Summary : You have many choices to make about your cancer treatment. One choice you might be thinking about is complementary and alternative medicine (CAM). CAM is the term for medical products and practices that are not part of standard care. Examples of CAM therapies are acupuncture, chiropractic, and herbal medicines. People with cancer may use CAM to - Help cope with the side effects of cancer treatments - Ease worries of cancer treatment and related stress - Feel that they are doing something more to help their own care CAM treatments do not work for everyone. Some methods, such as acupuncture, might help with nausea, pain and other side effects of cancer treatment. Talk to your doctor to make sure that all aspects of your cancer care work together. NIH: National Cancer Institute
How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnosed as various other conditions or psychological problems. While it is most easily recognized if all the major symptoms are reported, making the diagnosis based solely on symptoms is difficult. People often seek medical help for single symptoms that could be associated with other disorders, particularly epilepsy. In come cases, symptoms are not dramatically apparent for years. Sleep studies are an essential part of the evaluation of people with possible narcolepsy. The combination of an overnight polysomnogram (PSG) followed by a multiple sleep latency test (MSLT) can provide strongly suggestive evidence of narcolepsy, while excluding other sleep disorders. Measurement of hypocretin levels in the cerebrospinal fluid (CSF) may further help to establish the diagnosis. People with narcolepsy often have extremely low levels of hypocretin in their CSF. In some cases, human leukocyte antigen (HLA) typing may be helpful.
What causes familial hypertrophic cardiomyopathy? Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several genes. The genes most commonly responsible are the MYH7, MYBPC3, TNNT2, and TNNI3 genes. Other genes that have not yet been identified may also be responsible for familial HCM. The genes known to be responsible for familial HCM give the body instructions to make proteins that play important roles in contraction of the heart muscle. The proteins form structures in muscle cells called sarcomeres, which are needed for muscle contractions. Sarcomeres are made of protein fibers that attach to each other and release, allowing muscles to contract. The contractions of heart muscle are needed to pump blood to the rest of the body. While it is unclear exactly how mutations in these genes cause familial HCM, they are thought to lead to abnormal structure or function of sarcomeres, or reduce the amount of proteins made. When the function of sarcomeres is impaired, normal heart muscle contractions are disrupted.
These resources address the diagnosis or management of spina bifida: - Benioff Children's Hospital, University of California, San Francisco: Treatment of Spina Bifida - Centers for Disease Control and Prevention: Living with Spina Bifida - GeneFacts: Spina Bifida: Diagnosis - GeneFacts: Spina Bifida: Management - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sensitive - Spina Bifida Association: Urologic Care and Management - University of California, San Francisco Fetal Treatment Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. 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) Laryngomalacia 90% Respiratory insufficiency 50% Autosomal dominant inheritance - Dysphagia - Microcephaly - Stridor - Vocal cord paralysis - 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.
These resources address the diagnosis or management of Emanuel syndrome: - Gene Review: Gene Review: Emanuel Syndrome - Genetic Testing Registry: Emanuel syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Preauricular Tag or Pit 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
Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.
Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure. In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.
Branchio-oculo-facial syndrome 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 about half of cases, an affected person inherits the mutation from one affected parent. The remaining cases occur in people whose parents do not have a mutation in the TFAP2A gene. In these situations, the mutation likely occurs as a random event during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development of the affected individual.
Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin E is an antioxidant. It plays a role in your immune system and metabolic processes. Good sources of vitamin E include - Vegetable oils - Margarine - Nuts and seeds - Leafy greens Vitamin E is also added to foods like cereals. Most people get enough vitamin E from the foods they eat. People with certain disorders, such as liver diseases, cystic fibrosis, and Crohn's disease may need extra vitamin E. Vitamin E supplements may be harmful for people who take blood thinners and other medicines. Check with your health care provider before taking the supplements. NIH: National Institutes of Health Office of Dietary Supplements
Loa loa parasites are found in West and Central Africa. Ten countries have areas where there are high rates of infection (i.e., where more than 40% of the people who live in that area report that they have had eye worm in the past). An estimated 14.4 million people live in these areas of high rates of infection. Another 15.2 live in areas where 20–40% of people report that they have had eye worm in the past. More on: Where Loa Loa is Prevelant [WHO Map] The people most at risk for loiasis are those who live in the certain rain forests in West and Central Africa. The deerflies that pass the parasite to humans usually bite during the day and are more common during the rainy season. They are attracted by the movement of people and by smoke from wood fires. Rubber plantations are areas where more deerflies may be found. The flies do not typically enter homes, but they might be attracted to homes that are well lit. Travelers are more likely to become infected if they are in areas where they are bitten by deerflies for many months, though occasionally they get infected even if they are in an affected area for less than 30 days. Your risk of infection depends on the number of bites received, the number of infected deerflies in the area you visit, and the length of your stay in the area.
The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy.
Both inherited and acquired thrombotic thrombocytopenic purpura (TTP) occur suddenly with no clear cause. You can't prevent either type. If you've had TTP, watch for signs and symptoms of a relapse (flareup). (For more information, go to "Living With Thrombotic Thrombocytopenic Purpura.") Ask your doctor about factors that may trigger TTP or a flareup, including: Some diseases or conditions, such as pregnancy, cancer, HIV, lupus, or infections. Some medical procedures, such as surgery and blood and marrow stem cell transplant. Some medicines, such as ticlopidine, clopidogrel, cyclosporine A, chemotherapy, and hormone therapy and estrogens. If you take any of these medicines, your doctor may prescribe a different medicine. Quinine, which is a substance often found in tonic water and nutritional health products.
Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia. In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress.
About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene. A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause.
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.
Vasculitis occurs if your immune system attacks your blood vessels by mistake. What causes this to happen isn't fully known. A recent or chronic (ongoing) infection may prompt the attack. Your body also may attack its own blood vessels in reaction to a medicine. Sometimes an autoimmune disorder triggers vasculitis. Autoimmune disorders occur if the immune system makes antibodies (proteins) that attack and damage the body's own tissues or cells. Examples of these disorders include lupus, rheumatoid arthritis, and scleroderma. You can have these disorders for years before developing vasculitis. Vasculitis also may be linked to certain blood cancers, such as leukemia and lymphoma.
National Institute of Dental and Craniofacial Research 1 NOHIC Way Bethesda, MD 20892-3500 (301) 402-7364 http://www.nidcr.nih.gov
These resources address the diagnosis or management of distal myopathy 2: - Genetic Testing Registry: Myopathy, distal, 2 - MedlinePlus Encyclopedia: Muscular Dystrophy - National Institute of Neurological Disorders and Stroke: Muscular Dystrophy: Hope Through Research 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
Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the body's own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the insulin-producing cells in the pancreas in people with type 1 diabetes. However, many believe that both genetic factors and environmental factors are involved. Studies now are underway to identify these factors and prevent type 1 diabetes in people at risk. Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Get more details about who should be tested for diabetes.
How might Opitz G/BBB syndrome be treated? Because of the wide range of signs and symptoms that may be present in affected individuals, management of Opitz G/BBB syndrome typically incorporates a multidisciplinary team consisting of various specialists. Treatment for the condition may include surgery for significant abnormalities involving the larynx, trachea and/or esophagus; surgical intervention as needed for hypospadias, cleft lip and/or cleft palate, and imperforate anus; therapy for speech problems; surgical repair as needed for heart defects; neuropsychological support; and special education services.
Taking action to control your risk factors can help prevent or delay peripheral artery disease (P.A.D.) and its complications. Know your family history of health problems related to P.A.D. If you or someone in your family has the disease, be sure to tell your doctor. Controlling risk factors includes the following. Be physically active. Be screened for P.A.D. A simple office test, called an ankle-brachial index or ABI, can help determine whether you have P.A.D. Follow heart-healthy eating. If you smoke, quit. Talk with your doctor about programs and products that can help you quitsmoking. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. The lifestyle changes described above can reduce your risk of developing P.A.D. These changes also can help prevent and control conditions that can be associated with P.A.D., such as coronary heart disease, diabetes, high blood pressure, high blood cholesterol, andstroke.
What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myoclonic epilepsy, symptoms can be precipitated by: Sleep deprivation Psychological stress Alcohol and drug use Noncompliance of medication Photic stimulation Menses Time of day - Usually mornings
Summary : A mammogram is an x-ray picture of the breast. It can be used to check for breast cancer in women who have no signs or symptoms of the disease. It can also be used if you have a lump or other sign of breast cancer. Screening mammography is the type of mammogram that checks you when you have no symptoms. It can help reduce the number of deaths from breast cancer among women ages 40 to 70. But it can also have drawbacks. Mammograms can sometimes find something that looks abnormal but isn't cancer. This leads to further testing and can cause you anxiety. Sometimes mammograms can miss cancer when it is there. It also exposes you to radiation. You should talk to your doctor about the benefits and drawbacks of mammograms. Together, you can decide when to start and how often to have a mammogram. Mammograms are also recommended for younger women who have symptoms of breast cancer or who have a high risk of the disease. When you have a mammogram, you stand in front of an x-ray machine. The person who takes the x-rays places your breast between two plastic plates. The plates press your breast and make it flat. This may be uncomfortable, but it helps get a clear picture. You should get a written report of your mammogram results within 30 days. NIH: National Cancer Institute
What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - 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.
Summary : Fiber is a substance in plants. Dietary fiber is the kind you eat. It's a type of carbohydrate. You may also see it listed on a food label as soluble fiber or insoluble fiber. Both types have important health benefits. Good sources of dietary fiber include - Whole grains - Nuts and seeds - Fruit and vegetables Dietary fiber adds bulk to your diet and makes you feel full faster, helping you control your weight. It helps digestion and helps prevent constipation. Most Americans don't eat enough dietary fiber. But add it to your diet slowly. Increasing dietary fiber too quickly can lead to gas, bloating, and cramps. Centers for Disease Control and Prevention
Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations.
Tumors during pregnancy are rare, but they can happen. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. The most common cancers in pregnancy are breast cancer, cervical cancer, lymphoma, and melanoma. Cancer itself rarely harms the baby, and some cancer treatments are safe during pregnancy. You and your health care provider will work together to find the best treatment. Your options will depend on how far along the pregnancy is, as well as the type, size, and stage of your cancer. Another type of tumor that women can get is called a gestational trophoblastic disease (GTD). It happens when a fertilized egg doesn't become a fetus. GTD is not always easy to find. It is usually benign, but some types can be malignant. The most common type of GTD is a molar pregnancy. In its early stages, it may look like a normal pregnancy. You should see your health care provider if you have vaginal bleeding (not menstrual bleeding). Treatment depends on the type of tumor, whether it has spread to other places, and your overall health.
These resources address the diagnosis or management of MELAS: - Gene Review: Gene Review: MELAS - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke - MedlinePlus Encyclopedia: Lactic acidosis - MedlinePlus Encyclopedia: Stroke These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood.
Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. Only four cases have been reported in the medical literature. The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.

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