1. DMD (dystonia Musculorum Deformans) - Medical Dictionary Of Popular Medical Term A description of dystonia musculorum deformans.Category Health Conditions and Diseases Dystonia...... DMD (dystonia musculorum deformans) Also called torsion dystonia, this is a rare,generalized dystonia (a state of abnormal either excessive of inadequate http://www.medterms.com/script/main/art.asp?articlekey=8250

2. UCLA NEUROSURGERY | Movement Diseases & Disorders An article explaining what dystonia musculorum deformans is, the symptoms, causes and treatment. http://www.neurosurgery.medsch.ucla.edu/Diagnoses/Movement/MovementDis_7.html

Dystonia MOVEMENT DIAGNOSES INDEX What is dystonia? Dystonia is a general term used to describe failure of regulation of muscle tone, usually a sustained increase in muscle tone. When opposing muscles of an extremity have increased tone, there is a limitation of voluntary activity. When the increased tone of opposing muscles is not symmetrical, the extremity or trunk may be drawn into a distorted posture that cannot be overcome voluntarily. The most common form of dystonia is dystonia musculorum deformans. What is dystonia musculorum deformans and what are the symptoms? In the usual history, the first symptoms begin just prior to puberty, but they may occur anywhere between the ages of 3 and 15 or not until early adulthood. When the disease begins early, it usually involves the lower extremities first, and gait (walking) disturbance may be the only symptom for some time. When the disease begins later in life trunk and neck involvement is more likely to be the initial manifestation. The rate of progression of the symptoms is variable, but appears to be more rapid in patients whose symptoms appear early. The dystonia may progress to the point of almost complete immobility and death from secondary complications, usually pneumonia. What causes dystonia musculorum deformans?

3. CSH/Sjældne Handicap/Korte/Dystonia Musculorum Deformans dystonia musculorum deformans, adult dystonia musculorum deformans is described in an article in GeneReviews. http://www.csh.dk/sjaeldne_handicap/korte/dystonia_musculorum_deformans.html

Dystonia musculorum deformans (Idiopathic torsion dystonia) Denne arvelige lidelse optræder i to former: type 1 er dominant arvelig og viser sig i voksenalderen, type 2 er recessivt arvelig og viser sig i barndommen. Begge typer er særligt hyppige blandt Askenazi jøder. Sygdommen er en langsomt fremadskridende nervelidelse med skader i hjernens centrale kerner. Symptomerne viser sig i begyndelsen med mangelfuld kontrol og ufrivillige, vridende bevægelser af afgrænsede muskelgrupper, f.eks. et ben. Over flere år udvikles tilsvarende symptomer fra øvrige muskelgrupper inkl. ansigtets og tungens muskler. Medicinsk behandling kan dæmpe symptomerne. Totalt antal i Danmark: ? Kilder: Pediatric Database CSH 270499 /jesh Mere viden: Undersøgelse / vejledning: Center for Sjældne Sygdomme Århus Universitetshospital Brendstrupgårdsvej 100 8200 Århus N John Østergaard Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap.

4. Idiopathic Torsion Dystonia (dystonia Musculorum Deformans) - A Idiopathic Torsi Characterization of the rat mutant dystonic (dt) a new animal model of dystonia musculorum deformans. Lorden JF, McKeon TW, Baker HJ, Cox N, Walkley SU J Neurosci 1984 Aug;4(8)1925-32. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_97/Issue_04/970793.sgm.

Volume 97: January - December 1974 Issue 4: December 1974 Abstract Idiopathic torsion dystonia (dystonia musculorum deformans) - a review of forty-two patients CD Marsden and MJG Harrison Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

5. EMedicine - Idiopathic Torsion Dystonia : Article Excerpt By: Rowena Emilia Taba and Related Terms DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, primary torsion dystonia http://www.emedicine.com/neuro/byname/idiopathic-torsion-dystonia.htm

(advertisement) Excerpt from Idiopathic Torsion Dystonia Synonyms, Key Words, and Related Terms: DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, primary torsion dystonia Please click here to view the full topic text: Idiopathic Torsion Dystonia 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 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. Primary torsion dystonia may be focal, segmental, multifocal, or generalized, depending on which anatomical sites are involved (see Table 1).

6. Dystonia Musculorum Deformans Disease dystonia musculorum deformans. OMIM number 224500 http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/847.html

Disease : Dystonia musculorum deformans OMIM number : Body System : Type : Inheritance pattern : AR Incidence/prevalence : I Population surveyed : USA (Jews) Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : Reference : Comments :

7. NEJM Brain Neurotransmitters In Dystonia Musculorum Deformans Original Article from The New England Journal of Medicine Brain neurotransmitters in dystonia musculorum deformans. http://content.nejm.org/cgi/content/short/315/6/347

8. NEJM Abstracts Hornykiewicz Et Al. 315 (6) 347 6. Next Next. Brain neurotransmitters in dystonia musculorum deformansO Hornykiewicz, SJ Kish, LE Becker, I Farley, and K Shannak. http://content.nejm.org/cgi/content/abstract/315/6/347

9. Dystonia Musculorum Deformans dystonia musculorum deformans. This article submitted by Abigail Westwood on 1/12/97. http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/1.12.9711

Dystonia Musculorum Deformans This article submitted by Abigail Westwood on 1/12/97. Author's Email: EmmaPeel2@aol.com I am suprised that this forum has not addressed Dystonia Musculorum Deformans, which currently affects over 200,000 Americans and is MISDIAGNOSED 7 out of 10 times! I have had generalized dystonia for nearly 30 years, and undergone bilateral hypothalamectomies (scuse spelling) which resulted in a loss of speech. Now I receive injections of botulinum toxin to control the extraneous spasms in my neck and shoulders. I am always amazed when I meet other patients with dystonia, as the are constantly MISDIAGNOSED as having 1) cerebral palsy 2) multiple sclerosis - and most commonly, 3) Hysterical Mental Disorders. In fact, the great majority of these patients suffer in pain and embarrasment when told that there is nothing wrong with them, and are sent to a psychiatrist. I know several persons who have actually been committed to a mental institution because doctors were unable to put their finger on the problem.

10. Dystonia Musculorum Deformans I (torsion Dystonia, Juvenile) dystonia musculorum deformans I (torsion dystonia, juvenile) dystonia musculorum deformans is described in an article in GeneReviews. http://www.simulconsult.com/resources/c0013423.html

Dystonia musculorum deformans I (torsion dystonia, juvenile) Dystonia musculorum deformans is described in an article in GeneReviews SimulConsult Inc.

11. IGF076/84 FFF0761984 Morphology fibroblast Species human, Caucasian female; Tissue skin,fibroblast; Pathology dystonia musculorum deformans 2 Depositor Laboratorio http://www.biotech.ist.unige.it/cldb/cl2319.html

Version Complete description of the cell line that you requested. human, Caucasian skin, fibroblast dystonia musculorum deformans 2 (OMIM record) GEIMM FFF0761984 Morphology: fibroblast Species: human, Caucasian female; Tissue: skin, fibroblast; Pathology: dystonia musculorum deformans 2 Depositor: Laboratorio Diagnosi pre-postnatale delle malattie metaboliche, Istituto Giannina Gaslini, Genova, Italy Properties: genetic study Available in the following LABORATORY Istituto Giannina Gaslini (GEIMM, Genova) primary culture, grown as monolayer; RPMI 1640 + 15-18% FBS + 1% Antibiotics + 2g/l NaHCO3 + 2mM L-Glutamine; 37C, 5% CO2 Hazard: Cell line belongs to risk category Group 1 Affected homozygous; Clinical diagnosis Further information Freezing medium: Culture medium + 25% FBS + 10% Glycerol By Beatrice...

12. CSH/Sjældne Handicap/Indhold Duodenalatresi. DyggveMelchior-Clausen syndrom. Dysmeli. dystonia musculorum deformans.Dystrofia musculorum progressiva Duchenne. Døvblindhed. Tilbage til top. http://www.csh.dk/sjaeldne_handicap/indhold.html

A B C D ... Z Oplysninger om sjældne handicap: I den alfabetiske liste nedenfor findes de syndrombetegnelser, synonymer og undertyper, der er nævnt i vores beskrivelser. Du kan gå ind i beskrivelserne direkte fra listen eller skyde genvej ved hjælp af alfabetet ovenfor. Kan du ikke umiddelbart finde, hvad du søger, kan du også benytte vores søgefunktion ved at klikke på 'søgning' i menuen til venstre på siden, eller her Oplysningerne om de enkelte syndromer er af meget forskellig karakter. Nogle af beskrivelserne er forholdsvis korte og tager udgangspunkt i en definition af syndromet. Andre beskrivelser (betegnet med ) er udarbejdet på grundlag af litteraturgennemgang, kontakt med fagpersoner samt familier berørt af syndromet. Fælles for alle beskrivelser er, at de indeholder links til yderligere information samt adresser på undersøgelses- og vejledningssteder. Disse adresser er ikke udtømmende, da også andre kan være involverede i undersøgelse og behandling af den pågældende sygdom. Ønsker du mere information eller har forslag til rettelser og tilføjelser, er du velkommen til at kontakte CSH på csh@csh.dk.

13. Dystonia Musculorum dystonia musculorum deformans Monica Björkman © 1997 01 13 Dystonia musculorumdeformans eller torsionsspasm betyder abnorm muskeltonus som deformerar http://www.hu.sll.se/frames/diagnos/medicin/dystonia.htm

Dystonia musculorum deformans Monica Björkman © 1997 01 13 Dystonia musculorum deformans eller torsionsspasm betyder abnorm muskeltonus som deformerar muskulaturen resp.kramp som vrider omkring längdaxeln. Ibland kallas tillståndet för Oppenheims sjukdom eller Ziehen - Oppenheims sjukdom. Det som kännetecknar tillståndet är långsamma, orytmiska, ofrivilliga rörelser som leder till abnorma kroppsställningar och abnorma ställningar i armar och ben (framför allt överarmar och lår). Med tiden blir kroppsställningarna alltmer fixerade och man får bilden av tillbakadraget huvud, extrem svankrygg och vridningar av kroppen. I lindriga fall försvinner krampen i vila och dyker upp när man utför (eller vill utföra) viljemässiga rörelser. Krampen försvinner när man sover. Sjukdomen brukar komma i barndomen eller tonåren och märks då först som en gångrubbning. Musklerna förblir i sig själva normala, d v s de förtvinar inte eller sväller, reflexer och känsel är normala. Det kan finnas en rad olika orsaker: hjärninflammationer, ärr i hjärnan på grund av förlossningsskada, gulsot snart efter födelsen och några ärftliga tillstånd.

14. Service Page - Pathologie Information Synonym(s) dystonia musculorum deformans, Included disease(s) Dystonia musculorumdeformans type 1 dystonia musculorum deformans type 2, CIM G24.1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=256

15. ORPHANET® : Idiopathic Torsion Dystonia Translate this page ORPHANET. ORPHANET database access. Idiopathic torsion dystonia. Directaccess to details Alias dystonia musculorum deformans. Home Page. http://www.orpha.net/static/GB/idiopathic_torsion_dystonia.html

ORPHANET database access Idiopathic torsion dystonia Direct access to details Alias : Home Page

16. Abstracts: GENETICS OF DYSTONIA Idiopathic torsion dystonia, by Laurie Ozelius, Molecular Neurogenetics Unit, Massachusetts General Category Health Conditions and Diseases Dystonia...... Biochemical evidence for brain neurotransmitter changes in idiopathic torsiondystonia (dystonia musculorum deformans). Adv Neurol 50, 15765. http://www.hum-molgen.de/documents/abstracts/0070.html

home genetic news bioinformatics biotechnology ... next Abstracts: GENETICS OF DYSTONIA January 10, 1996 Neurogenetics Laurie Ozelius Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Ma. 2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995 Headings Idiopathic torsion dystonia (ITD) Idiopathic torsion dystonia (ITD) is a movement disorder characterized by sustained muscle contractions, causing twisting movements and postures that are not attributed to exogenous factors (i.e. trauma, neuroleptics) or other neurological disorders (i.e. Wilson’s disease, Parkinson’s disease) (Fahn et al., 1987). Clinical variation is extreme, ranging from focal involvement of a single body region, to generalized involvement of the limbs and trunk. This clinical variation most probably leads to the underestimation of the prevalence of ITD as many patients go undiagnosed. The frequency of the disease has been estimated at 1/160,000 in the general population (Zeman and Dykan, 1967) with a higher frequency of 1/15,000 in the Ashkenazi Jews (AJ)(Zilber et al., 1984). Recently, using our genotyping data and patient database, we have determined that the frequency of the disease in the Ashkenazi population is likely to lie in the range of 1/6000 to 1/2000 (Risch et al, 1995). There are at least seven clinically distinct types of hereditary dystonia: early onset, generalized dystonia; late onset, focal dystonia; dopa-responsive dystonia; alcohol-responsive myoclonic dystonia; rapid onset dystonia with Parkinsonism; paroxysmal dystonia and an X-linked recessive form with parkinsonian features (for review see Kramer et al, 1995; Gasser et al, 1992). Except for the X-linked form, all are inherited as autosomal dominant traits with low penetrance. Dopa-responsive dystonia (DRD) has been mapped to chromosome 14q (Nygaard et. al, 1993) and mutations in the GTP cyclohydrolase I gene have been found in DRD families (Ichinose et. al, 1994) suggesting that this is the causative gene for this disorder. The X-linked form has been linked to markers in Xq13.1 (Haberhausen et. al, 1995)while the early onset form maps to 9q34 (Ozelius et. al, 1989).

17. Dorlands Medical Dictionary sternomastoid or adjacent muscles. tortipelvis (tor·ti·pel·vis) (tor²tibrevepel¢vis)dystonia musculorum deformans. tortuous (tor·tu http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

18. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Dystonia+Musculorum+Deformans Similar pages dystonia musculorum deformans (in MARION)dystonia musculorum deformans. Records 1 to 1 of 1. Cooper, IS (IrvingSpencer), 1922 The victim is always the same by IS Cooper. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Dystonia Musculorum Deformans

19. Open Directory - Search Results Foundation. Focal Dystonia. Pathology dystonia musculorum deformans.Spasmodic dysphonia. Botox Injection for Laryngeal Spasmodic Dysphonia. http://www.ability.org.uk/Dystonia.html

Our Aims Services Stats ... Z DYSTONIA Dystonia Dialogue Dystonia Medical Research Foundation Focal Dystonia Pathology: dystonia musculorum deformans ... NIDCD Health Information: Spasmodic Dysphonia - A FAQ on SD, prepared by the National Institute on Deafness and Other Communication Disorders (a division of the National Institutes of Health). NORD-Dysphonia, Chronic Spasmodic - Information sheet, published by the National Organization for Rare Disorders. Provides a general description of chronic SD, as well as listings for online and off-line support organizations. DMRF Spasmodic Dysphonia Page CSOM: Treating Spasmodic Dysphonia with Acupuncture - Review of an alternative therapy for SD. Prepared by Calm Spirit Oriental Medicine. Mary Grover's Voice Care Tips - Courtesy of The National Voice Database. Dystonia Foundation Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

20. Dystoniegeneral Translate this page est le lien dans les dystonies DYT 1, entre une mutation dans la séquence codantpour la torsine A et le tableau clinique de dystonia musculorum deformans. http://perso.wanadoo.fr/jeanpierre.gadbois/dystoniegeneral.htm

LA DYSTONIE GÉNÉRALISÉE Génétique des dystonies primaires (Dr Marie-Hélène MARION) (Son intervention à Limoges le 23 avril 1999) Les dystonies d'origine génétique ont longtemps été considérées comme représentant une minorité de cas de dystonie, s'appliquant essentiellement aux formes familiales. Il y a dix ans l'équipe d'Ozelius aux USA localisait le gène DYT 1 de la dystonie généralisée primaire sur le chromosome 9, puis quelques années plus tard, identifiait la mutation de la maladie. Depuis, la connaissance de la génétique des formes généralisées et focales progresse à grands pas, conduisant à une nouvelle classification des dystonies et peut-être un jour à un traitement spécifique de ces dystonies. Les dystonies primaires se distinguent des dystonies secondaires, pour lesquelles une cause telle une maladie métabolique est à l'origine. Les dystonies généralisées de l'enfant se distinguent cliniquement des dystonies focales (restant localisées à un groupe musculaire) de l'adulte. Les progrès de la génétique permettent d'affiner cette classification. La dystonie généralisée primaire : Appelée "dystonia musculorum déformans" depuis la description par Oppenheimer au début du siècle, correspond à la dystonie liée au locus DYT 1 (chromosome 9), de transmission autosomale dominante à pénétrance réduite : la pénétrance réduite signifie que les porteurs du gène DYT 1 ne sont affectés par la dystonie que dans 30 % des cas environ. Ainsi, un enfant atteint a le plus souvent des parents n'ayant pas la maladie, alors que l'un d'eux est porteur du même gène que l'enfant. La dystonie primaire DYT 1 se caractérise par une dystonie débutant dans l'enfance au niveau d'un membre (le plus souvent un pied équin) et extension fréquente et rapide en moins de cinq ans aux autres parties du corps pour aboutir à une dystonie généralisée.

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