21. 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

22. 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

23. Dystonia,Torsion Dystonia,Generalized Dystonia,Primary Dystonia,Early-onset Dyst Dystonia,torsion dystonia,Generalized Dystonia,Primary Dystonia,Earlyonset Dystonia,Childhood-onset Dystonia,Dopa-responsive Dystonia (DRD),Focal Dystonia http://www.icomm.ca/geneinfo/dystonia.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Dystonia also known as: Torsion Dystonia Disorder Subdivisions 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 Writer's 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 Rapid-onset Dystonia-parkinsonism (RDP) Segmental Dystonia (as defined by the 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.

24. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Torsion Dyst Ashkenazi Disorders Mendelian. torsion dystonia. torsion dystonia I is a progressive movement disorder characterized by sustained, twisting muscle spasms. http://www.jewishgeneticscenter.org/what/ashkenazi/torsion.asp

Ashkenazi Disorders: Mendelian 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: Dystonia Medical Research Foundation 1 E. Wacker Drive, #2430

25. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Torsion Dyst Ashkenazi Disorders Mendelian. torsion dystonia. Gene torsion dystonia is caused by mutations in the DYT1 gene, which is located at 9q34. http://www.jewishgeneticscenter.org/what/ashkenazi/torsion2.asp

Ashkenazi Disorders: Mendelian 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 http://www.genetests.org/profiles/dystonia Reviewed by Dr. Joel Charrow , Children's Memorial Hospital. < Back This page last updated on January 10, 2003. Chicago Center for Jewish Genetic Disorders Home About the Center About Jewish Genetic Disorders Cancer Genetics ... Links Supported by a grant from the Michael Reese Health Trust

26. 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

Diseases Database Index Sponsors Contact ... Previous Page Torsion dystonia Information Search Torsion dystonia may be caused by or feature of (Follow link for list) may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) No UMLS definitions Torsion dystonia: specific sites Send Torsion dystonia to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 04:35:07 Metadata Updated 2004-05-22

27. 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

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map 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 Health Topics Symptoms Medical Tests Medications ... For a Complete Report Dystonia Important It is possible that the main title of the report Dystonia 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. Synonyms Torsion Dystonia Disorder Subdivisions 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 Writer’s 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

28. 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

document.write(''); var hwPrint=1; var hwDocHWID="nord31"; var hwDocTitle="Dystonia"; var hwRank="1"; var hwSectionHWID="nord31"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Dystonia Important 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. Synonyms Torsion Dystonia Disorder Subdivisions 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 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 Rapid-onset Dystonia-parkinsonism (RDP) Segmental Dystonia Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Marie's Ataxia Glutaricaciduria I Tardive Dyskinesia Hemifacial Spasm General Discussion 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).

29. 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

document.write(''); var hwPrint=1; var hwDocHWID="nord235"; var hwDocTitle="Meige Syndrome"; var hwRank="1"; var hwSectionHWID="nord235"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Meige Syndrome Important 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. Synonyms Brueghel Syndrome Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome Segmental Cranial Dystonia Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Brueghel Syndrome Benign Essential Blepharospasm Tardive Dyskinesia Torsion Dystonia Tourette Syndrome Spasmodic Torticollis General Discussion 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. Symptoms 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.

30. 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

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Neurological Disorders ... Torsion Dystonia More Torsion Dystonia Categories: Submit Your Site to the Torsion Dystonia category Sponsored Torsion Dystonia Sites Guide On Dystonia Disorders "This book has been created for patients who have decided to make education and research an integral part of the treatment process." Medicine Net: Torsion Dystonia - A brief description of this disorder, its onset and symptoms. Pediatric Database - A definition of torsion dystonia, the epidemiology, pathogenesis, clinical features, investigations and management. University of Pittsburgh - From the Genetics Education and Counseling Program a brochure about Torsion Dystonia. Submit Your Site to the Torsion Dystonia category Sponsored Results Health Spotlight List Your Site Here Today! Lab Tests Online @ YourLabTest.com Risk-free lab tests and screens on many common cancers and diseases. Why risk your health? Have your lab test results within 48 hours. Buy Levitra New!

31. 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

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.

32. N.C.M.G. Ireland - Early Onset Torsion Dystonia 1 Service Description. Early Onset torsion dystonia 1. Early onset torsion dystonia is an autosomal dominant disorder due to a mutation in the DYT1 gene on chromosome 9q34. http://www.genetics.ie/services/dyt1/

@import "/css2v2.css"; National Centre for Medical Genetics Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Skip Navigation H ome C ... ublications Early Onset Torsion Dystonia 1 Background Information 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. Standard service Essential referral information 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. Samples required Blood (3-5ml) in EDTA.

33. 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

34. Health Information Resource Database: Dystonia Medical Research Foundation The Foundation deals with all forms of dystonia including torsion dystonia, Blepharospasm, Meige s Syndrome, and spasmodic torticollis. Publications. http://www.health.gov/nhic/NHICScripts/Entry.cfm?HRCode=HR2202

35. TORSION DYSTONIA DISORDER torsion dystonia DISORDER. Dystonia Earlyonset torsion dystonia -Disease symptoms -Inheritance Inheritance is simple for early-onset torsion dystonia. http://www.biochem.arizona.edu/classes/bioc461/Biochem499/AngelaPulsifer/dystoni

TORSION DYSTONIA DISORDER Dystonia Early-onset Torsion Dystonia -Disease symptoms -Inheritance 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)

36. 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

REFERENCES 1.) Ozelius, Laurie J., Hewett, Jeffrey W., Page, Curtis E., Bressman, Susan B., Kramer, Patricia L., Shalish, Christo, de Leon, Deborah, Brin, Mitchell F., Raymond, Deborah, Corey, David P., Fahn, Stanley, Risch, Neil J., Buckler, Alan J., Gusella, James F., and Breakefield, Xandra O. "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein" Nature Genetics , volume 17, pages 40-47 (1997). 2.) Henehan, Sean "Torsion Dystonia Gene" Access Excellence 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).

37. Entrez PubMed The earlyonset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&dopt=Citati

38. 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

39. Dystonia - Quest Diagnostics Patient Health Library Synonyms. torsion dystonia. Disorder Subdivisions. Generalized Dystonia; Primary Dystonia; Earlyonset Dystonia; Childhood-onset Dystonia; http://www.questdiagnostics.com/kbase/nord/nord31.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord31"; var hwDocTitle="Dystonia"; var hwRank="1"; var hwSectionHWID="nord31"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Dystonia Important 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. Synonyms Torsion Dystonia Disorder Subdivisions 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 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 Rapid-onset Dystonia-parkinsonism (RDP) Segmental Dystonia General Discussion 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).

40. 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

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