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genetic changes | What are the genetic changes related to Prader-Willi syndrome ? | Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal chromosome 15 is deleted in each cell. People with this chromosomal change are missing certain critical genes in this region because the genes on the paternal copy have been deleted, and the genes on the maternal copy are turned off (inactive). In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent. This phenomenon is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15. It appears likely that the characteristic features of Prader-Willi syndrome result from the loss of function of several genes on chromosome 15. Among these are genes that provide instructions for making molecules called small nucleolar RNAs (snoRNAs). These molecules have a variety of functions, including helping to regulate other types of RNA molecules. (RNA molecules play essential roles in producing proteins and in other cell activities.) Studies suggest that the loss of a particular group of snoRNA genes, known as the SNORD116 cluster, may play a major role in causing the signs and symptoms of Prader-Willi syndrome. However, it is unknown how a missing SNORD116 cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder. In some people with Prader-Willi syndrome, the loss of a gene called OCA2 is associated with unusually fair skin and light-colored hair. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Prader-Willi syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes. Researchers are studying other genes on chromosome 15 that may also be related to the major signs and symptoms of this condition. |
treatment | What are the treatments for Cerebral Palsy ? | Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.Early intervention, supportive treatments, medications, and surgery can help many individuals improve their muscle control. Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers. |
information | What is (are) horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal. In people with HGPPS, an abnormal side-to-side curvature of the spine develops in infancy or childhood. It tends to be moderate to severe and worsens over time. Because the abnormal spine position can be painful and interfere with movement, it is often treated with surgery early in life. |
treatment | What are the treatments for Timothy syndrome ? | These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes 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 |
symptoms | What are the symptoms of Non 24 hour sleep wake disorder ? | What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. 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) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% 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. |
symptoms | What are the symptoms of Striatonigral degeneration infantile ? | What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Choreoathetosis - Developmental regression - Developmental stagnation - Dysphagia - Dystonia - Failure to thrive - Intellectual disability - Optic atrophy - Pendular nystagmus - Spasticity - 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. |
treatment | What are the treatments for systemic scleroderma ? | These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical 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 |
symptoms | What are the symptoms of Bartter syndrome antenatal type 2 ? | What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 2. 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) Hypomagnesemia 7.5% Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hyposthenuria - Impaired platelet aggregation - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Triangular face - Vomiting - 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. |
information | Do you have information about Native American Health | Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Americans. |
symptoms | What are the symptoms of Lichen sclerosus ? | What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As a result, the skin tears easily, and bright red or purple discoloration from bleeding inside the skin is common. Symptoms vary depending on the area affected. Patients experience different degrees of discomfort. When lichen sclerosus occurs on parts of the body other than the genital area, most often there are no symptoms, other than itching. If the disease is severe, bleeding, tearing, and blistering caused by rubbing or bumping the skin can cause pain. The Human Phenotype Ontology provides the following list of signs and symptoms for Lichen sclerosus. 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 renal physiology 90% Abnormality of reproductive system physiology 90% Abnormality of the gastrointestinal tract 90% Aplasia/Hypoplasia of the skin 90% Constipation 90% Hyperkeratosis 90% Lichenification 90% Pruritus 90% Autoimmunity 7.5% Psoriasis 7.5% Vaginal neoplasm 7.5% Verrucae 7.5% Autosomal dominant inheritance - Squamous cell carcinoma - 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. |
information | What is (are) Proteus syndrome ? | Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition. |
causes | What causes Subacute cerebellar degeneration ? | What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1 |
genetic changes | What are the genetic changes related to complement component 2 deficiency ? | Complement component 2 deficiency is caused by mutations in the C2 gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders, trigger inflammation, and remove debris from cells and tissues. The complement component 2 protein is involved in the pathway that turns on (activates) the complement system when foreign invaders, such as bacteria, are detected. The most common C2 gene mutation, which is found in more than 90 percent of people with complement component 2 deficiency, prevents the production of complement component 2 protein. A lack of this protein impairs activation of the complement pathway. As a result, the complement system's ability to fight infections is diminished. It is unclear how complement component 2 deficiency leads to an increase in autoimmune disorders. Researchers speculate that the dysfunctional complement system is unable to distinguish what it should attack, and it sometimes attacks normal tissues, leading to autoimmunity. Alternatively, the dysfunctional complement system may perform partial attacks on invading molecules, which leaves behind foreign fragments that are difficult to distinguish from the body's tissues, so the complement system sometimes attacks the body's own cells. It is likely that other factors, both genetic and environmental, play a role in the variability of the signs and symptoms of complement component 2 deficiency. |
exams and tests | How to diagnose Retinoblastoma ? | The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. The doctor will ask if there is a family history of retinoblastoma. - Eye exam with dilated pupil: An exam of the eye in which the pupil is dilated (opened wider) with medicated eye drops to allow the doctor to look through the lens and pupil to the retina. The inside of the eye, including the retina and the optic nerve, is examined with a light. Depending on the age of the child, this exam may be done under anesthesia. There are several types of eye exams that are done with the pupil dilated: - Ophthalmoscopy : An exam of the inside of the back of the eye to check the retina and optic nerve using a small magnifying lens and a light. - Slit-lamp biomicroscopy : An exam of the inside of the eye to check the retina, optic nerve, and other parts of the eye using a strong beam of light and a microscope. - Fluorescein angiography : A procedure to look at blood vessels and the flow of blood inside the eye. An orange fluorescent dye called fluorescein is injected into a blood vessel in the arm and goes into the bloodstream. As the dye travels through blood vessels of the eye, a special camera takes pictures of the retina and choroid to find any blood vessels that are blocked or leaking. - RB1 gene test: A laboratory test in which a sample of blood or tissue is tested for a change in the RB1 gene. - Ultrasound exam of the eye: A procedure in which high-energy sound waves (ultrasound) are bounced off the internal tissues of the eye to make echoes. Eye drops are used to numb the eye and a small probe that sends and receives sound waves is placed gently on the surface of the eye. The echoes make a picture of the inside of the eye and the distance from the cornea to the retina is measured. The picture, called a sonogram, shows on the screen of the ultrasound monitor. The picture can be printed to be looked at later. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the eye. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the eye, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Retinoblastoma can usually be diagnosed without a biopsy. When retinoblastoma is in one eye, it sometimes forms in the other eye. Exams of the unaffected eye are done until it is known if the retinoblastoma is the heritable form. |
symptoms | What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ? | What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral berry aneurysm - Cirrhosis - Emphysema - Hepatic failure - Nonarteriosclerotic cerebral calcification - Portal hypertension - Seizures - Short stature - 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. |
inheritance | Is propionic acidemia inherited ? | 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. |
outlook | What is the outlook for Piriformis Syndrome ? | The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. |
information | What is (are) Bladder cancer ? | Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy. |
treatment | What are the treatments for Hypophosphatasia ? | How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement. |
causes | What causes Mixed connective tissue disease ? | What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition. |
inheritance | Is persistent Mllerian duct syndrome inherited ? | 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. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition. |
treatment | What are the treatments for Hypersomnia ? | Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. Patients should avoid alcohol and caffeine. |
information | What is (are) Arachnoiditis ? | Arachnoiditis describes a pain disorder caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. The arachnoid can become inflamed because of an irritation from chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, or complications from spinal surgery or other invasive spinal procedures. Inflammation can sometimes lead to the formation of scar tissue and adhesions, which cause the spinal nerves to stick together. If arachnoiditis begins to interfere with the function of one or more of these nerves, it can cause a number of symptoms, including numbness, tingling, and a characteristic stinging and burning pain in the lower back or legs. Some people with arachnoiditis will have debilitating muscle cramps, twitches, or spasms. It may also affect bladder, bowel, and sexual function. In severe cases, arachnoiditis may cause paralysis of the lower limbs. |
treatment | What are the treatments for Osteoarthritis ? | People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. Massage. In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. Acupuncture. Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. Nutritional supplements, such as glucosamine and chondroitin sulfate, have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. Folk remedies include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. For general information about alternative therapies, see the Complementary Health Approaches topic. |
symptoms | What are the symptoms of Septo-optic dysplasia ? | What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Optic atrophy 90% Septo-optic dysplasia 90% Visual impairment 90% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Cleft palate 50% Cryptorchidism 50% Hemiplegia/hemiparesis 50% Hypoplasia of penis 50% Nystagmus 50% Seizures 50% Short stature 50% Strabismus 50% Abnormal renal physiology 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Autism 7.5% Cognitive impairment 7.5% Constipation 7.5% Diabetes insipidus 7.5% Dry skin 7.5% Hypohidrosis 7.5% Maternal diabetes 7.5% Obesity 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Tracheoesophageal fistula 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Autosomal recessive inheritance - Growth hormone deficiency - Optic disc hypoplasia - Optic nerve hypoplasia - Phenotypic variability - Polydactyly - Short finger - 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. |
treatment | What are the treatments for citrullinemia ? | These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Citrullinemia type I - Genetic Testing Registry: Citrullinemia type II - Genetic Testing Registry: Neonatal intrahepatic cholestasis caused by citrin deficiency - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Dementia ? | Dementia is not a specific disease. It is a descriptive term for a collection of symptoms that can be caused by a number of disorders that affect the brain. People with dementia have significantly impaired intellectual functioning that interferes with normal activities and relationships. They also lose their ability to solve problems and maintain emotional control, and they may experience personality changes and behavioral problems, such as agitation, delusions, and hallucinations. While memory loss is a common symptom of dementia, memory loss by itself does not mean that a person has dementia. Doctors diagnose dementia only if two or more brain functions - such as memory and language skills -- are significantly impaired without loss of consciousness. Some of the diseases that can cause symptoms of dementia are Alzheimers disease, vascular dementia, Lewy body dementia, frontotemporal dementia, Huntingtons disease, and Creutzfeldt-Jakob disease. Doctors have identified other conditions that can cause dementia or dementia-like symptoms including reactions to medications, metabolic problems and endocrine abnormalities, nutritional deficiencies, infections, poisoning, brain tumors, anoxia or hypoxia (conditions in which the brains oxygen supply is either reduced or cut off entirely), and heart and lung problems. Although it is common in very elderly individuals, dementia is not a normal part of the aging process. |
treatment | What are the treatments for Peutz-Jeghers syndrome ? | These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers 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 |
genetic changes | What are the genetic changes related to alpha-1 antitrypsin deficiency ? | Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ. Environmental factors, such as exposure to tobacco smoke, chemicals, and dust, likely impact the severity of alpha-1 antitrypsin deficiency. |
susceptibility | Who is at risk for Prostate Cancer? ? | Different factors increase or decrease the risk of developing prostate cancer. Anything that increases a person's chance of developing a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for prostate cancer, see the PDQ summary on Prostate Cancer Prevention. |
treatment | What are the treatments for ALG1-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1K 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 |
information | What is (are) Familial Periodic Paralyses ? | Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.
The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common. |
causes | What causes Hemochromatosis ? | Primary Hemochromatosis
Inherited genetic defects cause primary hemochromatosis, and mutations in the HFE gene are associated with up to 90 percent of cases.1 The HFE gene helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. C282Y defects are the most common cause of primary hemochromatosis.
People inherit two copies of the HFE geneone copy from each parent. Most people who inherit two copies of the HFE gene with the C282Y defect will have higher-than-average iron absorption. However, not all of these people will develop health problems associated with hemochromatosis. One recent study found that 31 percent of people with two copies of the C282Y defect developed health problems by their early fifties.2 Men who develop health problems from HFE defects typically develop them after age 40.1 Women who develop health problems from HFE defects typically develop them after menopause.1
People who inherit two H63D defects or one C282Y and one H63D defect may have higher-than-average iron absorption.3 However, they are unlikely to develop iron overload and organ damage.
Rare defects in other genes may also cause primary hemochromatosis. Mutations in the hemojuvelin or hepcidin genes cause juvenile hemochromatosis, a type of primary hemochromatosis. People with juvenile hemochromatosis typically develop severe iron overload and liver and heart damage between ages 15 and 30.
Secondary Hemochromatosis
Hemochromatosis that is not inherited is called secondary hemochromatosis. The most common cause of secondary hemochromatosis is frequent blood transfusions in people with severe anemia. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means they carry less oxygen to the bodys cells. Types of anemia that may require frequent blood transfusions include
- congenital, or inherited, anemias such as sickle cell disease, thalassemia, and Fanconis syndrome - severe acquired anemias, which are not inherited, such as aplastic anemia and autoimmune hemolytic anemia
Liver diseasessuch as alcoholic liver disease, nonalcoholic steatohepatitis, and chronic hepatitis C infectionmay cause mild iron overload. However, this iron overload causes much less liver damage than the underlying liver disease causes.
Neonatal Hemochromatosis
Neonatal hemochromatosis is a rare disease characterized by liver failure and death in fetuses and newborns. Researchers are studying the causes of neonatal hemochromatosis and believe more than one factor may lead to the disease.
Experts previously considered neonatal hemochromatosis a type of primary hemochromatosis. However, recent studies suggest genetic defects that increase iron absorption do not cause this disease. Instead, the mothers immune system may produce antibodiesproteins made by the immune system to protect the body from foreign substances such as bacteria or virusesthat damage the liver of the fetus. Women who have had one child with neonatal hemochromatosis are at risk for having more children with the disease.4 Treating these women during pregnancy with intravenous (IV) immunoglobulina solution of antibodies from healthy peoplecan prevent fetal liver damage.4
Researchers supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) recently found that a combination of exchange transfusionremoving blood and replacing it with donor bloodand IV immunoglobulin is an effective treatment for babies born with neonatal hemochromatosis.5 |
genetic changes | What are the genetic changes related to hand-foot-genital syndrome ? | Mutations in the HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urinary tract, and reproductive system. Mutations in the HOXA13 gene cause the characteristic features of hand-foot-genital syndrome by disrupting the early development of these structures. Some mutations in the HOXA13 gene result in the production of a nonfunctional version of the HOXA13 protein. Other mutations alter the protein's structure and interfere with its normal function within cells. Mutations that result in an altered but functional HOXA13 protein may cause more severe signs and symptoms than mutations that lead to a nonfunctional HOXA13 protein. |
information | What is (are) Glomerular Diseases ? | The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, 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.
Blood enters the kidneys through arteries that branch inside the kidneys into tiny clusters of looping blood vessels. Each cluster is called a glomerulus, which comes from the Greek word meaning filter. The plural form of the word is glomeruli. There are approximately 1 million glomeruli, or filters, in each kidney. The glomerulus is attached to the opening of a small fluid-collecting tube called a tubule. Blood is filtered in the glomerulus, and extra fluid and wastes pass into the tubule and become urine. Eventually, the urine drains from the kidneys into the bladder through larger tubes called ureters.
Each glomerulus-and-tubule unit is called a nephron. Each kidney is composed of about 1 million nephrons. In healthy nephrons, the glomerular membrane that separates the blood vessel from the tubule allows waste products and extra water to pass into the tubule while keeping blood cells and protein in the bloodstream. |
information | What is (are) Movement Disorders ? | Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain. |
causes | What causes Trisomy 17 mosaicism ? | What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism? How does trisomy mosaicism occur? |
information | What is (are) Seasonal Affective Disorder ? | Some people experience a serious mood change during the winter months, when there is less natural sunlight. This condition is called seasonal affective disorder, or SAD. SAD is a type of depression. It usually lifts during spring and summer. Not everyone with SAD has the same symptoms. They include - Sad, anxious or "empty" feelings - Feelings of hopelessness and/or pessimism - Feelings of guilt, worthlessness or helplessness - Irritability, restlessness - Loss of interest or pleasure in activities you used to enjoy - Fatigue and decreased energy - Difficulty concentrating, remembering details and making decisions - Difficulty sleeping or oversleeping - Changes in weight - Thoughts of death or suicide SAD may be effectively treated with light therapy. But nearly half of people with SAD do not respond to light therapy alone. Antidepressant medicines and talk therapy can reduce SAD symptoms, either alone or combined with light therapy. NIH: National Institute of Mental Health |
information | What is (are) Solitary Kidney ? | 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 kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. |
considerations | What to do for Financial Help for Diabetes Care ? | - Diabetes management and treatment is expensive. Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses. - Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include private health insurance and government health insurance. - Insurance companies sell private health insurance plans. Two types of private health insurance are group health insurance and individual health insurance. - Medicare is a federal health insurance program that pays health care costs for eligible people who are age 65 or older, under age 65 with certain disabilities, or of any age with end-stage renal disease. - Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program. - The Childrens Health Insurance Program (CHIP) gives free or low-cost Medicaid to children whose parents earn too much for Medicaid, though not enough to pay for a health plan. - Many local governments have public health departments that can help people who need medical care. Local resources such as charitable groups may offer financial help for some expenses related to diabetes. - People should talk with their health care providers if they have problems paying for diabetes medications. Less expensive generic medications for diabetes, blood pressure, and cholesterol are available. If a health care provider prescribes medications that a person cannot afford, the person should ask the health care provider about cheaper alternatives. - Health care providers may also be able to assist people who need help paying for their medications and diabetes testing supplies, such as glucose test strips, by providing free samples or referring them to local programs. Drug companies that sell insulin or diabetes medications often have patient assistance programs. |
information | What is (are) 1q21.1 microdeletion ? | 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features. About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild. Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss. Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention deficit hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia. Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family. |
frequency | How many people are affected by Meckel syndrome ? | Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry. |
treatment | What are the treatments for Chiari malformation type 1 ? | How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. Individuals with more severe symptoms may be in need of surgery. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. The goals of surgical treatment are decompression of the point where the skull meets the spine (the cervicomedullary junction) and restoration of normal flow of cerebrospinal fluid in the region of the foramen magnum (the hole in the bottom of the skull where the spinal cord passes to connect to the brain). Prognosis after surgery for the condition is generally good and typically depends on the extent of neurological deficits that were present before the surgery. Most individuals have a reduction of symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition. |
treatment | What are the treatments for Hereditary sensory neuropathy type IE ? | How might hereditary sensory neuropathy type IE be treated? There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include: meticulous care of the distal limbs, which includes proper fit of shoes, prevention and treatment of callus formation, cleaning and protection of wounds, and avoidance of trauma to the hands and feet injury prevention when sensory impairment is significant the use of hearing aids and/or assistive communication methods as needed sedative or antipsychotic medications to help reduce the restlessness, roaming behavior, delusions, and hallucinations associated with dementia psychological support for caregivers |
causes | What causes Cerebellar degeneration ? | What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders. |
exams and tests | How to diagnose Kidney Stones in Children ? | The process of diagnosing any illness begins with consideration of the symptoms. Pain or bloody urine may be the first symptom. Urine, blood, and imaging tests will help determine whether symptoms are caused by a stone. Urine tests can be used to check for infection and for substances that form stones. Blood tests can be used to check for biochemical problems that can lead to kidney stones. Various imaging techniques can be used to locate the stone:
- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An abdominal ultrasound can create images of the entire urinary tract. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show the location of any stones. This test does not expose children to radiation, unlike some other imaging tests. Although other tests are more useful in detecting very small stones or stones in the lower portion of the ureter, ultrasound is considered by many health care providers to be the best screening test to look for stones. - Computerized tomography (CT) scans use a combination of x rays and computer technology to create threedimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the child to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans may be required to get an accurate stone count when children are being considered for urologic surgery. Because CT scans expose children to a moderate amount of radiation, health care providers try to reduce radiation exposure in children by avoiding repeated CT scans, restricting the area scanned as much as possible, and using the lowest radiation dose that will provide the needed diagnostic information. - X-ray machines use radiation to create images of the childs urinary tract. The images can be taken at an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. The x rays are used to locate many kinds of stones. A conventional x ray is generally less informative than an ultrasound or CT scan, but it is less expensive and can be done more quickly than other imaging procedures. |
information | What is (are) Childhood Astrocytomas ? | Key Points
- Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. - Astrocytomas may be benign (not cancer) or malignant (cancer). - The central nervous system controls many important body functions. - The cause of most childhood brain tumors is not known. - The signs and symptoms of astrocytomas are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. - Childhood astrocytomas are usually diagnosed and removed in surgery. - Certain factors affect prognosis (chance of recovery) and treatment options.
Childhood astrocytoma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain.
Astrocytomas are tumors that start in star-shaped brain cells called astrocytes. An astrocyte is a type of glial cell. Glial cells hold nerve cells in place, bring food and oxygen to them, and help protect them from disease, such as infection. Gliomas are tumors that form from glial cells. An astrocytoma is a type of glioma. Astrocytoma is the most common type of glioma diagnosed in children. It can form anywhere in the central nervous system (brain and spinal cord). This summary is about the treatment of tumors that begin in astrocytes in the brain (primary brain tumors). Metastatic brain tumors are formed by cancer cells that begin in other parts of the body and spread to the brain. Treatment of metastatic brain tumors is not discussed here. Brain tumors can occur in both children and adults. However, treatment for children may be different than treatment for adults. See the following PDQ summaries for more information about other types of brain tumors in children and adults: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment
Astrocytomas may be benign (not cancer) or malignant (cancer).
Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause signs and symptoms and almost all need treatment.
The central nervous system controls many important body functions.
Astrocytomas are most common in these parts of the central nervous system (CNS): - Cerebrum : The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement. - Cerebellum : The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture. - Brain stem : The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. - Hypothalamus : The area in the middle of the base of the brain. It controls body temperature, hunger, and thirst. - Visual pathway: The group of nerves that connect the eye with the brain. - Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch. |
symptoms | What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ? | What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. 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) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - 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. |
frequency | How many people are affected by 15q13.3 microdeletion ? | 15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the general population. It appears to be more common in people with intellectual disability, epilepsy, schizophrenia, or autism spectrum disorders. |
information | What is (are) Prader-Willi syndrome ? | Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile). |
research | what research (or clinical trials) is being done for Lung Cancer ? | Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Today, some of the most promising treatment approaches incorporate precision medicine. This approach first looks to see what genes may be mutated that are causing the cancer, and once these genes are identified, specific drugs may be available that target the mutations and treat the cancer directly without the harsh side-effects often found with conventional chemotherapy. Researchers are also constantly trying to come up with new ways to find and diagnose lung cancer in order to catch it and treat it in its earliest stages. The National Lung Screening Trial, or NLST, showed conclusively that spiral CT reduced the risk of dying by 20 percent compared to those who received a chest x-ray among heavy smokers Get more information on current lung cancer research. |
inheritance | Is KBG syndrome inherited ? | 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
frequency | How many people are affected by Walker-Warburg syndrome ? | Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide. |
treatment | What are the treatments for Hashimoto's encephalitis ? | How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. Symptoms typically improve or resolve over a few months. Decisions regarding the length of steroid treatment and the rate of tapering off steroids are based on the individual's response to treatment. Treatment may last as long as two years in some patients. People with HE who experience repeated HE relapses, do not respond to steroids, and/or cannot tolerate steroid treatment have been treated with other immunosuppressive medications such as azathioprine and cyclophosphamide. Intravenous immunoglobulin, and plasmapheresis have also been used. |
frequency | How many people are affected by Romano-Ward syndrome ? | Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed. |
information | What is (are) Jacobsen syndrome ? | Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorders, which are characterized by impaired communication and socialization skills. Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting. Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. |
causes | What causes Von Hippel-Lindau disease ? | What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease. |
frequency | How many people are affected by mandibulofacial dysostosis with microcephaly ? | MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature. |
frequency | How many people are affected by hereditary pancreatitis ? | Hereditary pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals. |
treatment | What are the treatments for Lafora progressive myoclonus epilepsy ? | These resources address the diagnosis or management of Lafora progressive myoclonus epilepsy: - Gene Review: Gene Review: Progressive Myoclonus Epilepsy, Lafora Type - Genetic Testing Registry: Lafora disease - MedlinePlus Encyclopedia: Epilepsy - MedlinePlus Encyclopedia:Generalized Tonic-Clonic Seizure 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 |
exams and tests | How to diagnose Hyperthyroidism ? | Many symptoms of hyperthyroidism are the same as those of other diseases, so hyperthyroidism usually cannot be diagnosed based on symptoms alone. With suspected hyperthyroidism, health care providers take a medical history and perform a thorough physical exam. Health care providers may then use several blood tests, such as the following, to confirm a diagnosis of hyperthyroidism and find its cause:
TSH test. The ultrasensitive TSH test is usually the first test a health care provider performs. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available. The TSH test is especially useful in detecting mild hyperthyroidism. Generally, a TSH reading below normal means a person has hyperthyroidism and a reading above normal means a person has hypothyroidism.
Health care providers may conduct additional tests to help confirm the diagnosis or determine the cause of hyperthyroidism.
T3 and T4 test. This test shows the levels of T3 and T4 in the blood. With hyperthyroidism, the levels of one or both of these hormones in the blood are higher than normal.
Thyroid-stimulating immunoglobulin (TSI) test. This test, also called a thyroidstimulating antibody test, measures the level of TSI in the blood. Most people with Graves disease have this antibody, but people whose hyperthyroidism is caused by other conditions do not.
Radioactive iodine uptake test. The radioactive iodine uptake test measures the amount of iodine the thyroid collects from the bloodstream. Measuring the amount of iodine in a persons thyroid helps the health care provider determine what is causing a persons hyperthyroidism. For example, low levels of iodine uptake might be a sign of thyroiditis, whereas high levels could indicate Graves disease.
Thyroid scan. A thyroid scan shows how and where iodine is distributed in the thyroid. The images of nodules and other possible irregularities help the health care provider diagnose the cause of a persons hyperthyroidism.
More information is provided in the NIDDK health topic, Thyroid Tests. |
exams and tests | How to diagnose Childhood Astrocytomas ? | Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the same MRI scan to look at the chemical makeup of the brain tissue.
Childhood astrocytomas are usually diagnosed and removed in surgery. If doctors think there may be an astrocytoma, a biopsy may be done to remove a sample of tissue. For tumors in the brain, a part of the skull is removed and a needle is used to remove tissue. Sometimes, the needle is guided by a computer. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. Because it can be hard to tell the difference between types of brain tumors, you may want to have your child's tissue sample checked by a pathologist who has experience in diagnosing brain tumors. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. An MIB-1 test is a type of immunohistochemistry that checks tumor tissue for an antigen called MIB-1. This may show how fast a tumor is growing. Sometimes tumors form in a place that makes them hard to remove. If removing the tumor may cause severe physical, emotional, or learning problems, a biopsy is done and more treatment is given after the biopsy. Children who have NF1 may form a low-grade astrocytoma in the area of the brain that controls vision and may not need a biopsy. If the tumor does not continue to grow or symptoms do not occur, surgery to remove the tumor may not be needed. |
inheritance | Is Romano-Ward syndrome inherited ? | This condition is typically 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 inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes described above. These cases occur in people with no history of Romano-Ward syndrome in their family. |
symptoms | What are the symptoms of Nail dysplasia, isolated congenital ? | What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Concave nail - 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. |
information | What is (are) Moles ? | Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pink, tan or brown. They can be flat or raised. They are usually round or oval and no larger than a pencil eraser. About one out of every ten people has at least one unusual (or atypical) mole that looks different from an ordinary mole. They are called dysplastic nevi. They may be more likely than ordinary moles to develop into melanoma, a type of skin cancer. You should have a health care professional check your moles if they look unusual, grow larger, change in color or outline, or in any other way. NIH: National Cancer Institute |
information | What is (are) Osteonecrosis ? | Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. The bone starts to die and may break down. You can have osteonecrosis in one or several bones. It is most common in the upper leg. Other common sites are your upper arm and your knees, shoulders and ankles. The disease can affect men and women of any age, but it usually strikes in your thirties, forties or fifties. At first, you might not have any symptoms. As the disease gets worse, you will probably have joint pain that becomes more severe. You may not be able to bend or move the affected joint very well. No one is sure what causes the disease. Risk factors include - Long-term steroid treatment - Alcohol abuse - Joint injuries - Having certain diseases, including arthritis and cancer Doctors use imaging tests and other tests to diagnose osteonecrosis. Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases |
genetic changes | What are the genetic changes related to type A insulin resistance syndrome ? | Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. Most of the INSR gene mutations that cause type A insulin resistance syndrome lead to the production of a faulty insulin receptor that cannot transmit signals properly. Although insulin is present in the bloodstream, the defective receptors make it less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and leads to diabetes mellitus. In females with type A insulin resistance syndrome, excess insulin in the bloodstream interacts with hormonal factors during adolescence to cause abnormalities of the menstrual cycle, ovarian cysts, and other features of the disorder. This condition is designated as type A to distinguish it from type B insulin resistance syndrome. Although the two disorders have similar signs and symptoms, type B is not caused by INSR gene mutations; instead, it results from an abnormality of the immune system that blocks insulin receptor function. |
information | What is (are) Ulcerative Colitis ? | Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease. UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include - Anemia - Severe tiredness - Weight loss - Loss of appetite - Bleeding from the rectum - Sores on the skin - Joint pain - Growth failure in children About half of people with UC have mild symptoms. Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
genetic changes | What are the genetic changes related to sepiapterin reductase deficiency ? | Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step in the production of tetrahydrobiopterin. Tetrahydrobiopterin helps process several building blocks of proteins (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. SPR gene mutations disrupt the production of sepiapterin reductase. Most SPR gene mutations result in an enzyme with little or no function. A nonfunctional sepiapterin reductase leads to a lack of tetrahydrobiopterin. In most parts of the body, there are alternate pathways that do not use sepiapterin reductase for the production of tetrahydrobiopterin, but these pathways are not found in the brain. Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain. When no tetrahydrobiopterin is produced in the brain, production of dopamine and serotonin is greatly reduced. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite. The lack of these two neurotransmitters causes the problems with movement and other features of sepiapterin reductase deficiency. |
genetic changes | What are the genetic changes related to Glanzmann thrombasthenia ? | Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. During clot formation, integrin IIb3 helps platelets bind together. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. ITGA2B or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin IIb3. As a result, platelets cannot clump together to form a blood clot, leading to prolonged bleeding. Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin IIb3 that is available. People with type I (the most common type) have less than 5 percent of normal integrin IIb3 levels, people with type II have between 5 and 20 percent of normal integrin IIb3 levels, and people with the variant type have adequate integrin IIb3 levels but produce only nonfunctional integrin. Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of the disorder in these individuals is unknown. |
genetic changes | What are the genetic changes related to Zellweger spectrum disorder ? | Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome. Mutations in the genes that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of Zellweger syndrome are due to the absence of functional peroxisomes within cells. NALD and infantile Refsum disease are caused by mutations that allow some peroxisomes to form. Mutations in the PEX1 gene are the most common cause of Zellweger spectrum disorder and are found in nearly 70 percent of affected individuals. The other genes associated with Zellweger spectrum disorder each account for a smaller percentage of cases of this condition. |
information | What is (are) Blau syndrome ? | Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications. |
treatment | What are the treatments for Parasites - Echinococcosis ? | In the past, surgery was the only treatment for cystic echinococcal cysts. Chemotherapy, cyst puncture, and PAIR (percutaneous aspiration, injection of chemicals and reaspiration) have been used to replace surgery as effective treatments for cystic echinococcosis. However, surgery remains the most effective treatment to remove the cyst and can lead to a complete cure. Some cysts are not causing any symptoms and are inactive; those cysts often go away without any treatment.
The treatment of alveolar echinococcosis is more difficult than cystic echinococcosis and usually requires radical surgery, long-term chemotherapy, or both.
More on: Resources for Health Professionals: Treatment |
information | What is (are) van der Woude syndrome ? | Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population. |
treatment | What are the treatments for fatty acid hydroxylase-associated neurodegeneration ? | These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 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 |
exams and tests | How to diagnose Aquagenic pruritus ? | How is aquagenic pruritus diagnosed? Criteria for diagnosis include : Severe itching, prickling, stinging, or burning that consistently develops after skin contact with water, regardless of water temperature or salinity; Lack of visible skin manifestations; Reaction within minutes of exposure and lasting anywhere between 10 minutes to 2 hours; Lack of a other skin disease, internal condition, or medication to account for the reaction; and Exclusion of all other physical urticarias, symptomatic dermographism, and polycythemia vera. |
symptoms | What are the symptoms of Inclusion body myopathy 2 ? | What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps (a group of large muscles at the front of the thigh). This condition also spares muscles of the eye or heart, and does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear. The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy 2. 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) Adult onset - Autosomal recessive inheritance - Deposits immunoreactive to beta-amyloid protein - Distal amyotrophy - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Gait disturbance - Limb-girdle muscle atrophy - Limb-girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - 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. |
inheritance | Is cerebrotendinous xanthomatosis inherited ? | 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. |
causes | What causes Hairy tongue ? | What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue. |
frequency | How many people are affected by Moebius syndrome ? | The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns. |
information | What is (are) Embryonal carcinoma ? | Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ cell tumors. Most testicular cancers grow from germ cells, the cells that make sperm. Germ cell tumors are broadly divided into seminomas and nonseminomas because each type has a different prognosis and treatment regimen. Nonseminomas, which are more common, tend to grow more quickly than seminomas. Nonseminoma tumors are often made up of more than one type of cell, and are identified according to the different cell types. |
prevention | How to prevent Atherosclerosis ? | Taking action to control your risk factors can help prevent or delay atherosclerosis and its related diseases. Your risk for atherosclerosis increases with the number of risk factors youhave.
One step you can take is to adopt a healthy lifestyle, which can include:
Heart-Healthy Eating. Adopt heart-healthy eating habits, which include eating different fruits and vegetables (including beans and peas), whole grains, lean meats, poultry without skin, seafood, and fat-free or low-fat milk and dairy products. A heart-healthy diet is low in sodium, added sugar, solid fats, and refined grains. Following a heart-healthy diet is an important part of a healthy lifestyle.
Physical Activity. Be as physically active as you can. Physical activity can improve your fitness level and your health. Ask your doctor what types and amounts of activity are safe for you. Read more about Physical Activity and Your Heart.
Quit Smoking. If you smoke, quit. Smoking can damage and tighten blood vessels and raise your risk for atherosclerosis. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. Read more about Smoking and Your Heart.
Weight Control. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control risk factors foratherosclerosis.
Other steps that can prevent or delay atherosclerosis include knowing your family history of atherosclerosis. If you or someone in your family has an atherosclerosis-related disease, be sure to tell your doctor.
If lifestyle changes arent enough, your doctor may prescribe medicines to control your atherosclerosis risk factors. Take all of your medicines as your doctor advises. |
inheritance | Is Tracheobronchopathia osteoplastica inherited ? | Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter. |
symptoms | What are the symptoms of Leri Weill dyschondrosteosis ? | What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. 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 femur 90% Abnormality of the hip bone 90% Abnormality of the humeroulnar joint 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Arthralgia 90% Bone pain 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Depressed nasal bridge 90% Exostoses 90% Genu varum 90% Limitation of joint mobility 90% Madelung deformity 90% Micromelia 90% Patellar aplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Elbow dislocation 50% Genu valgum 50% Osteoarthritis 50% Scoliosis 50% Nephropathy 7.5% Abnormality of the carpal bones - Abnormality of the metatarsal bones - Autosomal dominant inheritance - Coxa valga - Disproportionate short-limb short stature - Dorsal subluxation of ulna - Fibular hypoplasia - High palate - Hypoplasia of the radius - Hypoplasia of the ulna - Increased carrying angle - Limited elbow movement - Limited wrist movement - Mesomelia - Multiple exostoses - Radial bowing - Short 4th metacarpal - Short tibia - Short toe - Skeletal muscle hypertrophy - Tibial bowing - 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. |
treatment | What are the treatments for Insomnia ? | Lifestyle changes often can help relieve acute (short-term) insomnia. These changes might make it easier to fall asleep and stay asleep.
A type of counseling called cognitive-behavioral therapy (CBT) can help relieve the anxiety linked to chronic (ongoing) insomnia. Anxiety tends to prolong insomnia.
Several medicines also can help relieve insomnia and re-establish a regular sleep schedule. However, if your insomnia is the symptom or side effect of another problem, it's important to treat the underlying cause (if possible).
Lifestyle Changes
If you have insomnia, avoid substances that make it worse, such as:
Caffeine, tobacco, and other stimulants. The effects of these substances can last as long as 8 hours.
Certain over-the-counter and prescription medicines that can disrupt sleep (for example, some cold and allergy medicines). Talk with your doctor about which medicines won't disrupt your sleep.
Alcohol. An alcoholic drink before bedtime might make it easier for you to fall asleep. However, alcohol triggers sleep that tends to be lighter than normal. This makes it more likely that you will wake up during the night.
Try to adopt bedtime habits that make it easier to fall asleep and stay asleep. Follow a routine that helps you wind down and relax before bed. For example, read a book, listen to soothing music, or take a hot bath.
Try to schedule your daily exercise at least 5 to 6 hours before going to bed. Don't eat heavy meals or drink a lot before bedtime.
Make your bedroom sleep-friendly. Avoid bright lighting while winding down. Try to limit possible distractions, such as a TV, computer, or pet. Make sure the temperature of your bedroom is cool and comfortable. Your bedroom also should be dark and quiet.
Go to sleep around the same time each night and wake up around the same time each morning, even on weekends. If you can, avoid night shifts, alternating schedules, or other things that may disrupt your sleep schedule.
Cognitive-Behavioral Therapy
CBT for insomnia targets the thoughts and actions that can disrupt sleep. This therapy encourages good sleep habits and uses several methods to relieve sleep anxiety.
For example, relaxation techniques and biofeedback are used to reduce anxiety. These strategies help you better control your breathing, heart rate, muscles, and mood.
CBT also aims to replace sleep anxiety with more positive thinking that links being in bed with being asleep. This method also teaches you what to do if you're unable to fall asleep within a reasonable time.
CBT also may involve talking with a therapist one-on-one or in group sessions to help you consider your thoughts and feelings about sleep. This method may encourage you to describe thoughts racing through your mind in terms of how they look, feel, and sound. The goal is for your mind to settle down and stop racing.
CBT also focuses on limiting the time you spend in bed while awake. This method involves setting a sleep schedule. At first, you will limit your total time in bed to the typical short length of time you're usually asleep.
This schedule might make you even more tired because some of the allotted time in bed will be taken up by problems falling asleep. However, the resulting tiredness is intended to help you get to sleep more quickly. Over time, the length of time spent in bed is increased until you get a full night of sleep.
For success with CBT, you may need to see a therapist who is skilled in this approach weekly over 2 to 3 months. CBT works as well as prescription medicine for many people who have chronic insomnia. It also may provide better long-term relief than medicine alone.
For people who have insomnia and major depressive disorder, CBT combined with antidepression medicines has shown promise in relieving both conditions.
Medicines
Prescription Medicines
Many prescription medicines are used to treat insomnia. Some are meant for short-term use, while others are meant for longer use.
Talk to your doctor about the benefits and side effects of insomnia medicines. For example, insomnia medicines can help you fall asleep, but you may feel groggy in the morning after taking them.
Rare side effects of these medicines include sleep eating, sleep walking, or driving while asleep. If you have side effects from an insomnia medicine, or if it doesn't work well, tell your doctor. He or she might prescribe a different medicine.
Some insomnia medicines can be habit forming. Ask your doctor about the benefits and risks of insomnia medicines.
Over-the-Counter Products
Some over-the-counter (OTC) products claim to treat insomnia. These products include melatonin, L-tryptophan supplements, and valerian teas or extracts.
The Food and Drug Administration doesn't regulate natural products and some food supplements. Thus, the dose and purity of these substances can vary. How well these products work and how safe they are isn't well understood.
Some OTC products that contain antihistamines are sold as sleep aids. Although these products might make you sleepy, talk to your doctor before taking them.
Antihistamines pose risks for some people. Also, these products may not offer the best treatment for your insomnia. Your doctor can advise you whether these products will benefit you. |
symptoms | What are the symptoms of Coenzyme Q10 deficiency ? | What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Dysarthria - Elevated serum creatine phosphokinase - Encephalopathy - Glomerulosclerosis - Hepatic failure - Hypergonadotropic hypogonadism - Hypertrophic cardiomyopathy - Intellectual disability - Lactic acidosis - Motor delay - Nephrotic syndrome - Nystagmus - Onset - Pancytopenia - Phenotypic variability - Postural instability - Progressive muscle weakness - Ragged-red muscle fibers - Recurrent myoglobinuria - Rod-cone dystrophy - Scanning speech - Seizures - Sensorineural hearing impairment - Specific learning disability - Visual loss - 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. |
information | What is (are) Uterine Diseases ? | The uterus, or womb, is the place where a baby grows when a woman is pregnant. The first sign of a problem with the uterus may be bleeding between periods or after sex. Causes can include hormones, thyroid problems, fibroids, polyps, cancer, infection, or pregnancy. Treatment depends on the cause. Sometimes birth control pills treat hormonal imbalances. If a thyroid problem is the cause, treating it may also stop the bleeding. If you have cancer or hyperplasia, an overgrowth of normal cells in the uterus, you may need surgery. With two other uterine problems, tissue that normally lines the uterus grows where it is not supposed to. In endometriosis, it grows outside the uterus. In adenomyosis, it grows in the uterus's outside walls. Pain medicine may help. Other treatments include hormones and surgery. |
frequency | How many people are affected by Apert syndrome ? | Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. |
information | What is (are) Thalassemia ? | Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute |
causes | What causes Felty's syndrome ? | What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related) |
genetic changes | What are the genetic changes related to Rothmund-Thomson syndrome ? | Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA. RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome. In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been found. The cause of the condition in these individuals is unknown; however, researchers suspect that these cases may result from mutations in a gene related to the RECQL4 gene. In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes arise because of the overall instability of an affected person's genetic information; they do not cause the disorder. |
outlook | What is the outlook for Central Pontine Myelinolysis ? | The prognosis for myelinolysis varies. Some individuals die and others recover completely. Although the disorder was originally considered to have a mortality rate of 50 percent or more, improved imaging techniques and early diagnosis have led to a better prognosis for many people. Most individuals improve gradually, but still continue to have challenges with speech, walking, emotional ups and downs, and forgetfulness. |
information | What is (are) Iron-Deficiency Anemia ? | Espaol
Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from food.
Overview
Iron-deficiency anemia is a common type of anemia. The term "anemia" usually refers to a condition in which your blood has a lower than normal number of red blood cells. Red blood cells carry oxygen and remove carbon dioxide (a waste product) from your body.
Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that carries oxygen from the lungs to the rest of the body.
Iron-deficiency anemia usually develops over time if your body doesn't have enough iron to build healthy red blood cells. Without enough iron, your body starts using the iron it has stored. Soon, the stored iron gets used up.
After the stored iron is gone, your body makes fewer red blood cells. The red blood cells it does make have less hemoglobin than normal.
Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications.
Infants and young children and women are the two groups at highest risk for iron-deficiency anemia.
Outlook
Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of the condition. Treatments may include dietary changes, medicines, and surgery.
Severe iron-deficiency anemia may require treatment in a hospital, blood transfusions, iron injections, or intravenous iron therapy. |
prevention | How to prevent Broken Heart Syndrome ? | Researchers are still learning about broken heart syndrome, and no treatments have been shown to prevent it. For people who have experienced the condition, the risk of recurrence is low.
An emotionally upsetting or serious physical event can trigger broken heart syndrome. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.
Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program.
Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. Learning to manage stress includes adopting healthy habits that will keep your stress levels low and make it easier to deal with stress when it does happen. A healthy lifestyle includes following a healthy diet, being physically active, maintaining a healthy weight, and quitting smoking. |
information | What is (are) Psoriasis ? | The most common form of psoriasis is called plaque psoriasis. It appears as raised red patches covered in silvery white scales. Plaque psoriasis usually shows up on the scalp, knees, elbows, and lower back. The patches may itch or be painful. They can also crack and bleed. |
inheritance | Is Ghosal hematodiaphyseal dysplasia inherited ? | 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. |
outlook | What is the outlook for Cephalic Disorders ? | The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity. |
treatment | What are the treatments for 21-hydroxylase deficiency ? | These resources address the diagnosis or management of 21-hydroxylase deficiency: - Baby's First Test - CARES Foundation: Treatment - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Genetic Testing Registry: 21-hydroxylase deficiency - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia 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 |
information | What is (are) Refsum disease ? | Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which often becomes apparent in childhood. Over a period of years, the disease disrupts side (peripheral) vision and may eventually lead to blindness. Vision loss and anosmia are seen in almost everyone with Refsum disease, but other signs and symptoms vary. About one-third of affected individuals are born with bone abnormalities of the hands and feet. Features that appear later in life can include progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an abnormal heart rhythm (arrhythmia) and related heart problems that can be life-threatening. |
treatment | What are the treatments for essential tremor ? | These resources address the diagnosis or management of essential tremor: - Genetic Testing Registry: Hereditary essential tremor 1 - Johns Hopkins Movement Disorders Center - MedlinePlus Encyclopedia: Essential Tremor 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 |
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