21. Error Page DISEASE Idiopathic torsion dystonia, Synonym(s) Dystonia musculorumdeformans, Included disease(s) Dystonia musculorum deformans http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=256

22. National Parkinson Foundation, Inc. torsion dystonia. Rowena Emilia Tabamo, MD, is a of motion exercises.Pathophysiology Idiopathic torsion dystonia. The major nuclear http://www.parkinson.org/torsiondystonia.htm

TORSION DYSTONIA Rowena Emilia Tabamo, MD, is a member of the following medical societies: American Academy of Neurology, and Movement Disorders Society Background: Dystonia is a syndrome of sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures (Fahn et al, 1987). In 1908, Schwalbe first described primary/idiopathic torsion dystonia in a Jewish family, and in 1911, Oppenheim termed this dystonia musculorum deformans (DMD). Initially believed to be a manifestation of hysteria, idiopathic torsion dystonia gradually became established as a neurological entity with a genetic basis. DMD or Oppenheim disease are terms now used for childhood- and adolescent-onset dystonia due to the DYT1 gene. With the recent mapping of genes for idiopathic torsion dystonia and identification of a gene for early onset dystonia, the description idiopathic/primary dystonia has become outdated; it now may be viewed as secondary to or symptomatic of an identified cause. However, continuing to use "primary" torsion dystonia to classify a group of dystonias as a clinically and genetically heterogenous group of movement disorders is justifiable on the basis that dystonia is the primary and sole abnormality attributable to the condition, and degeneration on pathologic examination is not known.

23. Dystonic Posturing (torsion Dystonia, Torticolis Included) Dystonic posturing (torsion dystonia, torticolis included). GillesLyon, MD. Dystonia consist of slow sustained, irregular, twisting http://simulconsult.com/resources/ftemp247.html

Dystonic posturing (torsion dystonia, torticolis included) Gilles Lyon, MD Dystonia consist of slow sustained, irregular, twisting (torsional) movements or muscle spasms interspersed with more rapid involuntary movements or jerks. The slow, sinuous, purposeless movements predominating in hands, feet, face and tongue of athetosis or choreo-athetosis (when brisk involuntary movements are also present) are closely allied with extrapyramidal (basal ganglia) disorders. Dystonia and athetosis have been used almost interchangeably in the literature; the term dystonia is now generally preferred. ALERT : Dystonia must be distinguished from ataxia. This finding is described in an NIH Fact Sheet SimulConsult Inc.

24. Database Search Results Database Search Results. Searched keywords for torsion dystonia. http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Torsion Dystonia

25. 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

26. Idiopathic Torsion Dystonia Idiopathic torsion dystonia. Idiopathic torsion dystonia (ITD) is a muscular disorderthat can affect the entire body or just one group of voluntary muscles. http://endeavor.med.nyu.edu/student-org/ama/docs/mgb1999-2000/cd62.htm

27. Torsion Dystonia. BOTOX. torsion dystonia. BOTOX. I am 18 yo I have torsion dystonia on stretch11 years. For all this time I search methods of treatment it. http://neuro-www.mgh.harvard.edu/forum_2/DystoniaF/9.11.996.21PMTorsiondysto.htm

This Web Forum is not moderated in any sense. Anyone on the Internet can post articles or reply to previously posted articles, and they may do so anonymously. Therefore, the opinions and statements made in all articles and replies do not represent the official opinions of MGH and MGH Neurology. Neither is MGH or MGH Neurology responsible for the content of any articles or replies. No messages are screened for content. Torsion dystonia. BOTOX. This article submitted by Gulakov Constantin on 9/11/99. Email Address: gulakov@mail.ru Hi All. I am 18 y.o. I have torsion dystonia on stretch 11 years. For all this time I search methods of treatment it. And once I managed to make it. I have overlooked that such dystonia for 5 years. But recently illness has returned with the even greater force. I know that this illness is unpredictable. Me spoke that it can disappear and to occur of itself. But all the same I am sure, that there are methods of treatment of this illness. And one more question: where in USA BOTOX is made. Interests natural and electronic address of this enterprise. And also prices. Beforehand thank you by all responded.

28. 16yrold With Torsion Dystonia 16yrold with torsion dystonia. This response submitted by Sarah on 5/13/98.Email Address mernst@pop.iquest.net Next Article Previous http://neuro-www.mgh.harvard.edu/forum/DystoniaF/16yroldwithtorsiondystonia.htm

16yrold with torsion dystonia This response submitted by Sarah on 5/13/98. Email Address: mernst@pop.iquest.net Next Article Previous Article Return to original Article Click HERE to return to the main Neurology WebForum Homepage. These forums are maintained by the Department of Neurology at Massachusetts General Hospital John Lester - Webspinner

29. Gene Sequenced For Disabling Childhood Movement Disorder 1997 ress release on disabling childhood movement disorder,EarlyOnset torsion dystonia (archived). http://www.ninds.nih.gov/news_and_events/pressrelease_disabling_childhhod_moveme

30. From Gene To Function In Dystonia Overview Xandra Breakefield The discovery in 1997, of the TORA1 (DYT1) gene, responsiblefor early onset torsion dystonia, has catapulted dystonia from the http://www.ninds.nih.gov/news_and_events/DMRF_NINDS_Workshop_2001.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Press releases Current Archived Events Proceedings ... NINDS Notes News articles Current Archived Online events Upcoming Archived Of interest.. Labs at NINDS Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health Workshop: From Gene to Function in Dystonia Get Web page suited for printing Email this to a friend or colleague DMRF/NINDS Dystonia Workshop - "From Gene to Function in Dystonia" Chairs: Xandra Breakefield, Laurie Ozelius, Phyllis Hanson, William Dauer January 19 - 21, 2001 Phoenix, AZ Overview: Xandra Breakefield Genetics - Laurie Ozelius It was clear from this meeting that the discovery of the gene for early onset dystonia has led to an explosion of work on the TOR1A protein and its role in disease and underscores the need to find other genes responsible for the various forms of dystonia. With regard to TOR1A, (Laurie Ozelius, Albert Einstein University) a new 18 bp deletion mutation was described that removes 6 amino acids from the C-terminus of the protein including a putative phosphorylation site. In addition, studies aimed at determining genetic factors that might influence the penetrance of early onset dystonia were discussed. Using the simplest model of inheritance (autosomal dominant with a high gene frequency), six chromosomal regions of positivity (multiple positive markers) have been identified on chromosomes 2, 5, 7 (two regions) and 8 (two regions). One of the regions on chromosome 7 and another on chromosome 8 overlap with regions that have been implicated in myoclonus dystonia and adolescent onset dystonia (DYT6), respectively. If genes influencing penetrance can be identified, this may lead to new treatments aimed at delaying or preventing the manifestation of the mutant TOR1A gene in carriers.

31. NIH Press Release - Gene Sequenced For Disabling Childhood Movement Disorder - 0 Gene Sequenced for Disabling Childhood Movement Disorder EarlyOnsettorsion dystonia Protein Found. Scientists have sequenced the http://www.nih.gov/news/pr/sept97/ninds-03.htm

NATIONAL INSTITUTES OF HEALTH National Institute of Neurological Disorders and Stroke FOR IMMEDIATE RELEASE Wednesday, September 3, 1997 Marcia Vital Gene Sequenced for Disabling Childhood Movement Disorder Early-Onset Torsion Dystonia Protein Found Scientists have sequenced the gene responsible for early-onset torsion dystonia and have found a new class of proteins that may provide insight into all of the dystonia disorders. Dystonia disorders cause involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor, and abnormal posture. The discovery of the gene will make diagnosis of early-onset torsion dystonia easier and allow scientists to investigate other factors that might contribute to the disease. The study, supported by the National Institute of Neurological Disorders and Stroke (NINDS), is published in the September 1997 issue of Nature Genetics "The cloning of this gene is a long sought-after goal," says Zach W. Hall, Ph.D., Director of the NINDS. "Its discovery is a signal achievement which will help us understand the pathological basis of dystonia and other movement disorders." NINDS grantees, Xandra O. Breakefield, Ph.D., and Laurie J. Ozelius, Ph.D., neurogeneticists at Massachusetts General Hospital (MGH) in Boston and lead authors of the study, have been searching for the dystonia gene for more than 15 years. Their team included investigators at Columbia Presbyterian Medical Center and Mt. Sinai Hospital in New York City, Stanford University in Stanford, California, and Oregon Health Sciences University in Portland, Oregon. In 1989 the team localized or mapped the gene to chromosome 9 and named it DYT1. Now, they have sequenced the DYT1 gene and found that it codes for a previously unknown protein which the team named "torsinA."

32. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso Sites. Medicine Net torsion dystonia A brief description of this disorder,its onset and symptoms. Pediatric Database A definition http://www.1uphealth.com/links/movement-disorders-torsion-dystonia.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Movement Disorders : Torsion Dystonia Description Sites 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. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

33. Gene Sequenced For Disabling Childhood Movement Disorder 1997 ress release on disabling childhood movement disorder, EarlyOnsettorsion dystonia (archived). Archived Press Release - National http://accessible.ninds.nih.gov/news_and_events/pressrelease_disabling_childhhod

34. WE MOVE - Dystonia: References J, de Leon D, Chouinard S, SaundersPullman R, Brin MF, Kapoor RP, Jones AC, ShenH, Fahn S, Risch NJ, Nygaard TG (1997) Idiopathic torsion dystonia linked to http://www.wemove.org/dys_ref.html

go to: Top of Section References Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG (1997) Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann.Neurol. Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte OW, Voit T (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics Bentivoglio AR, Del Grosso N, Albanese A, Cassetta E, Tonali P, Frontali M. Non-DYT1 dystonia in a large Italian family. J Neurol Neurosurg Psychiatry. Brashear A, Butler IJ, Ozelius LJ, et al. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology, Vol. 78. Philadelphia, Pa: Lippincott-Raven Publishers; 1998:335-339.

35. Searchalot Directory For Torsion Dystonia Related Web Sites. Medicine Net torsion dystonia A brief descriptionof this disorder, its onset and symptoms. Pediatric Database http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Movement Disorders : Torsion Dystonia Related Web Sites 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. All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!

36. Science News Magazine - References - This Week 9/13/97 1997. The earlyonset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 1989.Human gene for torsion dystonia located on chromosome 9q32-q34. http://www.sciencenews.org/sn_arc97/9_13_97/ref1.htm

September 13, 1997 Full Text Available for Selected Articles News of the Week: The West Coast's Roving Real Estate Much of British Columbia and southeast Alaska may once have been attached to Mexico. References: Ward, P.D. . . . J.L. Kirschvink, K.L. Verosub. 1997. Measurements of the Cretaceous paleolatitude of Vancouver Island: Consistent with the Baja-British Columbia hypothesis. Science 277(Sept. 12):1642. Lucky choice turns up world-record prime A participant in the Great Internet Mersenne Prime Search discovered the largest known prime number, an 895,932-digit behemoth. References: The official announcement of the discovery is available at http://www.mersenne.org/2976221.htm Diminished repertoire cripples fungus The disease-causing fungus C. albicans must switch back and forth between two different characteristic shapes in order to cause illness. References: Braun, B.R., and A.D. Johnson. 1997. Control of filament formation in Candida albicans by the transcriptional repressor TUP1. Science 277(July 4):105. Lo, H., et al. 1997. Nonfilamentous C. albicans mutants are avirulent. Cell 90(Sept. 5).

37. Connexion 3, DYT1 mutation in French families with idiopathic torsion dystonia. 4, TheTOR1A (DYT1) gene family and its role in early onset torsion dystonia. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=DYT1

38. Untitled Funding Type Fellowships Date 3/2002 Title A Drosophila Model for Early Onsettorsion dystonia Belzberg Fellowship (second year) Author Young Ho Koh, Ph.D http://www.dystonia-foundation.org/research/abstracts.asp

Listed below are the current abstracts the Foundation is currently funding and the progress reports from past grants and fellowships: Grants Pathophyisology of DYT1 Dystonia: Conditional Torla Mutant Mice Genetic Modifiers of Torsin-related Phenotypes in Drosophila The Generation and Characterization of an Animal Model of DYT1 Dystonia The OOC-5 Protein, a C. elegans Model for Studying Torsin Protein Function ... TorsinA Transgenic Mouse, Modeling the Early-Onset Primary Torsional Dystonia Fellowships A Zebrafish Model of Idiopathic Torsion Dystonia Menkes/Markham Fellowship (second year) Funding Type: Grants Date: Title: Pathophyisology of DYT1 Dystonia: Conditional Torla Mutant Mice Author: Yuqing Li, Ph.D. Location: Urbana, Illinois Abstract: Dr. Li is pursuing the goal of understanding DYT1 dystonia by using transgenic mice that lack torsinA proteins or that have altered forms of torsinA in critical regions of the nervous system or muscles. The mouse model he employs permits study from embryonic development, known to be important in the overall development of DYT1 dystonia in humans. Successful conclusion of his funded research will shed important light on the function of torsinA. Funding Type: Grants Date: Title: Genetic Modifiers of Torsin-related Phenotypes in Drosophila Author: James F. Gusella, Ph.D.

39. Florida State University College Of Medicine Digital Library document; Tardive Dyskinesia Access document; Hemifacial Spasm Accessdocument; Idiopathic torsion dystonia Access document; Dopamine http://fsumed-dl.slis.ua.edu/clinical/neurology/cns/dystonia.htm

Clinical Resources by Topic: Neurology Dystonia Clinical Resources Emergency Pediatrics Geriatrics Genetics ... Miscellaneous Resources See also: Neurological Clinical Procedure Resources General Neurology Clinical Resources Dystonia Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 22: Weakness, Myalgias, Disorders of Movement, and Imbalance Table of contents Introduction: Access document Movement Disorders: Access document Introduction: Access document Pathogenesis: Access document Approach to the Patient: Access document Chapter 363: Parkinson's Disease and Other Extrapyramidal Disorders Table of contents Idiopathic Torsion Dystonia: Access document Treatment: Access document Focal Torsion Dystonia: Access document Treatment: Access document Task-Specific Focal Dystonia: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Medical Library subscription INFO Chapter 16 - Hypokinesia and Hyperkinesia: Access document History and Definitions: Access document Clinical History: Access document Anatomy of the Basal Ganglia: Access document Examination of Hypokinesia and Hyperkinesia: Access document Evaluation Guidelines: Access document Clinical Syndromes: Access document General Management Goals: Access document Reviews and Selected Updates: Access document Chapter 34 - Movement Disorders: Access document History: Access document Hyperkinetic Movement Disorders: Access document Reviews and Selected Updates: Access document Ferri: Ferri's Clinical Advisor: Instant Diagnosis and Treatment - 2003 (MD Consult):

40. University Of Miami School Of Medicine - Glossary - Dystonia A form of dystonia known as earlyonset torsion dystonia (also called idiopathicor generalized torsion dystonia) begins in childhood around the age of 12. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=349

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