Healthfinder® - Torsion Dystonia Carefully selected government and nonprofit health information on torsion dystonia. healthfinder® home page, healthfinder® your http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=863
Healthfinder® - Torsion Dystonia Carefully selected government and nonprofit health information on torsion dystonia. home health library all topics T torsion dystonia. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=863&refine=1
Extractions: National Organization for Rare Disorders Dystonia is a group of complex movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force a certain part(s) of the body into abnormal, sometimes painful, movements and positions (postures). Dystonia is not a single disease, but rather a diverse group of conditions with a variety of symptoms. There are many different causes for dystonia. Genetic as well as non-genetic factors contribute to all forms of dystonia. The most characteristic finding associated with dystonia is twisting, repetitive movements that affect a certain part(s) of the body such as the neck, or an arm or leg, or the face.
Extractions: Torsion Dystonia Torsion dystonia I is a progressive movement disorder characterized by sustained, twisting muscle spasms. With time, the frequency and duration of these spasms increases, leading to joint contractures and progressive disability. Individuals with torsion dystonia have normal early development and normal intelligence. The underlying mechanism of the disorder is not well understood. There is no cure, but there has been progress in treating dystonia with a variety of medications. Disease frequency: 1/6,000 - 1/2,000 in those of Jewish ancestry. 1 in 6,000 to 1 in 2,000 Diagnosis: Evaluation by a physician knowledgeable about the symptoms of the disorder. Increasingly by testing of one of the genes involved in this condition. Inheritance: Autosomal Dominant Prenatal diagnosis: Possible in families where a mutation has been identified in a torsion dystonia gene. Technical Information on Torsion Dystonia Additional Information:
Extractions: Torsion Dystonia Gene: Torsion dystonia is caused by mutations in the DYT1 gene, which is located at 9q34. It encodes torsinA, an ATP-binding protein that resembles a heat-shock protein. It is dominantly inherited. Mutations and testing: More than 90% of early-onset cases of torsion dystonia in the Ashkenazi Jewish population are caused by a GAG deletion. This deletion is estimated to have low penetrance and only produces symptoms in 30% of the people who carry it. Traits: Treatment: Treatment is aimed predominately at the relief of symptoms. Medications may be used to block the transmission of the nerve impulses that initiate the contractions. Surgery may be helpful in more serious cases. To reduce the number and severity of contractions caused by stress, hypnosis, sleep, and relaxation may help. Torsion Dystonia from Geneclinics.org
Torsion Dystonia Information Diseases Database torsion dystonia belong(s) to the category of + (Follow link for list). No UMLS definitions. Medical information linkstorsion dystonia specific sites. http://www.diseasesdatabase.com/ddb29464.htm
Dystonia disorder subdivision(s) covered by this report. Synonyms torsion dystonia. Disorder Subdivisions Generalized Dystonia; Primary Dystonia; http://my.webmd.com/hw/parkinsons/nord31.asp
Extractions: You are in Choose a Topic All Conditions ADD/ADHD Allergies Alzheimer's Arthritis Asthma Back Pain Breast Cancer Cancer Dental Depression Diabetes Eye Health Heart Disease Hepatitis HIV/AIDS Hypertension Men's Conditions Mental Health Migraines/Headaches Multiple Sclerosis Osteoporosis Parkinson's Sexual Conditions Stroke Weight Control Women's Conditions Generalized Dystonia Primary Dystonia Early-onset Dystonia Childhood-onset Dystonia Dopa-responsive Dystonia (DRD) Focal Dystonia Blepharospasm (Benign Essential Blepharospasm[BEB]) Cervical Dystonia (Spasmodic Torticollis[ST]) Oromandibular Dystonia Writers Cramp Paroxysmal Dystonia Paroxysmal Kinesigenic Dystonia (PKD) Paroxysmal Dystonia Choreathetosis Spasmodic Torticollis (Cervical Dystonia) Spasmodic Dysphonia (SD) X-Linked Dystonia-parkinsonism Late-onset Dystonia Secondary Dystonia Tardive Dyskinesia Tardive Dystonia Myoclonic Dystonia
Dystonia torsion dystonia. Disorder Subdivisions. MD The Johns Hopkins University; Entry No 128100; OMIM Name torsion dystonia 1, Autosomal Dom; Last Update 12/16/99. http://www.bchealthguide.org/kbase/nord/nord31.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Dystonia is a group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures).
Meige Syndrome torsion dystonia is a rare neurological movement disorder characterized by involuntary contortions of the muscles in the neck, torso, and/or arms and legs. http://www.bchealthguide.org/kbase/nord/nord235.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Meige Syndrome is a rare neurological movement disorder (dyskinesia) characterized by spasms of the muscles of the eyelids and associated loss of tone in these eyelid muscles. Symptoms may include excessive blinking (blepharospasm) or involuntary eyelid closure. On occasion, the muscles of the face may also be involved. The exact cause of Meige Syndrome is not known. This disorder generally affects people during late middle age. The symptoms of Meige Syndrome typically begin during late middle age and may include gradual functional impairment of the muscles of the eyelids (dyskinesia orbiculares oculi). Muscle spasms may cause excessive involuntary blinking (blepharospasm) or episodes of involuntary eyelid closure. In some people with Meige Syndrome, the muscles of the face are also affected, resulting in facial grimacing and uncontrollable squeezing movements of the facial muscles (facial dystonia). Other symptoms may include jaw grinding movements, repeated forceful opening of the jaw, and retraction of the lips into the mouth. Eyelid and facial muscle tone may gradually decline.
Neurological Disorders, Movement Disorders, Torsion Dystonia Submit Your Site to the torsion dystonia category. Sponsored torsion dystonia Sites. Submit Your Site to the torsion dystonia category. Health Spotlight. http://www.iseekhealth.com/torsion_dystonia-2070.php
Generalized Torsion Dystonia: By Vivian Generalized torsion dystonia by Vivian. Generalized torsion dystoniais a chronic, incurable and very disabling condition, in which the muscles go into spasm. http://www.rxmarihuana.com/shared_comments/Torsion.htm
Extractions: Generalized Torsion Dystonia: by Vivian Generalized torsion dystoniais a chronic, incurable and very disabling condition, in which the muscles go into spasm. The agonist and antagonist muscles pull at the same time (normally, one tightens and the other relaxes). 'Treatment' is brain surgery with dubious results, botox for milder cases, or Diazepam and the benzos for muscle relaxation. Unfortunately, the benzos create addiction far worse than heroin. Marijuana is a muscle relaxant, and certainly worked for me, but the problem I have is finding good quality marijuana, rather than 'factory sweepings'. The London specialists have known since at least 1981 that marijuana helps, but it's now 2003, and they're still sitting on the fence! Attempts to make a synthetic version which works have failed. At my wits' end.
Extractions: @import "/css2v2.css"; Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Skip Navigation Early onset torsion dystonia is an autosomal dominant disorder due to a mutation in the gene on chromosome 9q34. Penetrance is low with only around 30% of individuals with a mutation expressing the disease. However penetrance varies between families. A 3bp GAG deletion in the gene is the only mutation so far detected in a large number of patients from different ethnic backgrounds. represents only one of a clinically and genetically heterogeneous group of idiopathic torsion dystonias. Most patients with atypical presentation for do not have the GAG deletion. In addition to supplying standard patient and referral information, the following should be clearly indicated: Patient's symptoms. Any family history, including names, dates of birth and genetics test results if available. Blood (3-5ml) in EDTA.
Database Search Results database does not imply endorsement by the US Department of Health and Human Services.. Searched keywords for torsion dystonia. http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Torsion Dystonia
Extractions: Dystonia is a disorder characterized by involuntary spasms and muscle contractions that induce abnormal movements and postures. Dystonia may affect only one part of the body, such as the neck or arm, or can affect the whole body. There are many different types of dystonia. Primary or idiopathic dystonia have no known organic lesions and secondary dystonia arises from an insult to the basal ganglia of the central nervous system. Generalized dystonia (affects a wide range of body areas) usually occurs in childhood and most often affects the limbs and feet. The most common type is Torsion dystonia , which is inherited and can leave individuals seriously disabled and confined to a wheelchair. This type of dystonia will be the main focus for the rest of this discussion. Focal dystonias (affects specific body parts) usually occur later in life (40s to 50s) and an individual may suffer from more than one type (Howell, 1997)
Works Cited F., and Breakefield, Xandra O. The earlyonset torsion dystonia gene (DYT1) encodes an ATP-binding protein Nature Genetics, volume 17, pages 40-47 (1997). http://www.biochem.arizona.edu/classes/bioc461/Biochem499/AngelaPulsifer/worksci
Extractions: 3.) Ozelius, Laurie J., Hewett, Jeffrey, Kramer, Patricia, Bressman, Susan B., Shalish, Christo, de Leon, Deborah, Rutter,Marc, Risch, Neil, Brin, Mitchell F., Markova, Elena D., Limborska, Svetlana A., Ivanova-Smollenskaya, Irina A., McCormick, Mary Kay, Fahn, Stanley, Buckler, Alan J., Gusella, James F., and Breakefield, Xandra O. "Fine localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: Yac Map and Linkage disequilibrium" Genome Research , vol.7, pgs. 483-494 (1997).
Entrez PubMed The gene (DYT1) for earlyonset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Ozelius http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&dopt=Citati
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Dystonia is a group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures).
ORPHANET® Idiopathic Torsion Dystonia ORPHANET. Orphanet database access. Idiopathic torsion dystonia. Direct access to data Alias Dystonia musculorum deformans type 1; Dystonia http://www.orpha.net/static/GB/idiopathictorsiondystonia.html
