41. Stiff Person Syndrome choose Reflex Sympathetic Dystrophy Syndrome as your search term in the Rare Disease Database.) Torsion dystonia (dystonia musculorum deformans, DMD) is an http://www.bchealthguide.org/kbase/nord/nord326.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord326"; var hwDocTitle="Stiff Person Syndrome"; var hwRank="1"; var hwSectionHWID="nord326"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Stiff Person 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 Moersch-Woltmann Syndrome Muscular Rigidity - Progressive Spasm SMS Stiff Man Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Reflex sympathetic dystrophy syndrome (RSDS) Torsion dystonia (dystonia musculorum deformans, DMD) General Discussion Stiff-person syndrome is an extremely rare progressive neurological disorder characterized by persistent stiffness (rigidity) and spasms of certain voluntary muscles, especially those of the legs and the feet. In some cases, muscles of the neck, trunk, and shoulders may also be involved. Stiff-person syndrome may begin as recurring (intermittent) episodes of stiffness and spasms, often precipitated by surprise or minor physical contact. The exact cause of Stiff-person syndrome is not known. Symptoms Stiff-person syndrome is characterized by progressive muscular rigidity. Aching and tightness of the voluntary muscles of the body and limbs are usually the first symptoms. Profuse sweating and a rapid heartbeat (tachycardia) may accompany the muscle spasms. Muscles of the neck, trunk, shoulders, and proximal extremities may be involved on both sides of the body. During attacks of muscular spasm, contractions such as sharp bending and twitching may occur in the muscles of the hand. Extreme bending of the sole (plantar flexion) may also occur. Affected muscles may become twisted and contracted, resulting in bone fractures in the most severe cases. Persons affected by Stiff-person syndrome may have difficulty making sudden movements and exhibit a waddling gait when walking.

42. Dystonia Update 12/16/99. Entry No 128101; OMIM Name dystonia musculorum deformans 4; Last Update 9/9/98. Entry No 128230; OMIM Name 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).

43. Dystonia Primary dystonias Generalised dystonia This is also known as primary torsion dystonia or dystonia musculorum deformans. The usual http://www.netdoctor.co.uk/diseases/facts/dystonia.htm

NetDoctor.co.uk Home News and features News Newsletter Features Encyclopaedia Diseases Examinations Medicines Premium services SMS services StayQuit thediet Health centres Allergy and asthma Children's health Depression Eczema ... All health centres Discussion and support Discussion forums Support groups Services Ask the doctor Find a hospital Search Medline Test yourself Information About NetDoctor Commercial opportunities NetDoctor.com Dystonia Dr Helen Hanson , Movement Disorders Unit, King's College Hospital, London Dr K Ray Chaudhuri , Movement Disorders Unit, King's College Hospital, London What is dystonia? Dystonia is a syndrome of spasms and sustained contractions of the muscles. These muscle movements are not under voluntary control and they result in repetitive abnormal movements of parts of the body or persistently abnormal postures. Dystonia can affect virtually any single part of the body or several different areas at once. What are the risks?

44. Abstracts: GENETICS OF DYSTONIA Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (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).

45. Ziehen-Oppenheim Syndrome (www.whonamedit.com) syndrome ZiehenSchwalbe-Oppenheim syndrome Synonyms Dysbasia lordotica progressiva, dystonia lenticularis, dystonia musculorum deformans, progressive torsion http://www.whonamedit.com/synd.cfm/1921.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Ziehen-Oppenheim syndrome Also known as: Oppenheim-Turner syndrome Schwalbe-Ziehen-Oppenheim syndrome Ziehen-Schwalbe-Oppenheim syndrome Synonyms: Dysbasia lordotica progressiva, dystonia lenticularis, dystonia musculorum deformans, progressive torsion spasm, torsion dystonia, torsion neurosis, torsion spasm. Associated persons: Hermann Oppenheim Marcus Walter Schwalbe Henry Hubert Turner Georg Theodor Ziehen Description: A familial torsion spasm due to a lesion of the basal ganglia. It begins in one leg and gradually progresses to severe disability. It is characterized by an overextension or over flexion of the hand; inversion of the foot, producing a classical dromedary gait; latero- or retroflexion of the head, torsion of the spine with arching and twisting of the back, forceful closure of the eyes, and a fixed grimace. Usually unilateral. Onset between 5 and 15 years of age. Mostly in Semitic peoples. Both autosomal dominant, recessive, and X-linked forms have been described. Familial cases frequently in Jewish kindreds of eastern European origin. The Polish neurologists Edward Flatau (1869-1932) and Wladyslaw Sterling (1877-1943) described the same condition, also in 1911.

46. Flatau-Sterling Syndrome (www.whonamedit.com) The term dystonia musculorum deformans, coined by the German neurologist Hermann Oppenheim (18581919) in 1911, was criticized by Flatau and Sterling (1911 http://www.whonamedit.com/synd.cfm/2271.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Flatau-Sterling syndrome Synonyms: Torsion dystonia. Associated persons: Edward Flatau Wladyslaw Sterling Description: Dystonia is a neurologic syndrome characterized by involuntary, sustained, patterned, and often repetitive muscle contractions of opposing muscles causing twisting movements or abnormal postures. The term dystonia musculorum deformans, coined by the German neurologist Hermann Oppenheim (1858-1919) in 1911, was criticized by Flatau and Sterling (1911) because fluctuating muscle tone was not necessarily characteristic of the disorder, the term musculorum incorrectly implied that the involuntary movement was due to a muscle disorder, and not all patients became deformed. They highlighted the genetic nature of the disorder and suggested the term progressive torsion spasm. See also Ziehen-Oppenheim syndrome, under Georg Theodor Ziehen, German neurologist and psychiatrist, 1862-1950.

47. DiseaseSeek.com Dystonia Medicine Net profile http//www.medterms.com/script/main/art.asp?articlekey=8250 A description of dystonia musculorum deformans. http://www.diseaseseek.com/categories/Health__Conditions_and_Diseases__Neurologi

@import url(http://www.animationseek.com/style.css); Search Directory Forum Conditions and Diseases Neurological Disorders Movement Disorders Dystonia - Found 21 sites about Dystonia Blepharospasm ADDER - Dystonia Research profile http://www.dystonia.co.uk Information about the organization which promotes medical and patient education about movement disorders. Includes a newsletter, publications, definitions and links. profile http://www.care4dystonia.org Information about dystonia, treatment, toxin use, medical care and alternative therapies. Newsletter. Dystonia profile http://dem0nmac.mgh.harvard.edu/forum/DystoniaMenu.html Webforum to discuss and comment on dystonia. Unmoderated. Dystonia profile http://r.caspento.tripod.com/new_page_3.htm Personal experiences by Robyn and Kelly struggling with a rare disorder. Site offers information and links to doctors who may be able to help. Support for all who cross the path of this disease specifically mandibular focal dystonia. Dystonia Medical Research Foundation profile http://www.dystonia-foundation.org/dmrf.html Canadian Foundation supporting research, awareness and support related to dystonia.

48. Neurological Disorders: Movement Disorders: Dystonia A description of dystonia musculorum deformans. NORD Dystonia. An article explaining what dystonia musculorum deformans is, the symptoms, causes and treatment. http://www.puredirectory.com/Health/Conditions-and-Diseases/Neurological-Disorde

Neurological Disorders: Movement Disorders: Dystonia Home Health Conditions and Diseases Neurological Disorders ... Movement Disorders : Dystonia Blepharospasm google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings Abstracts: Genetics of Dystonia Idiopathic torsion dystonia, by Laurie Ozelius, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Ma. 2nd Workshop Neur... ADDER - Dystonia Research Information about the organization which promotes medical and patient education about movement disorders. Includes a newsletter, publications, def... Information about dystonia, treatment, toxin use, medical care and alternative therapies. Newsletter. Dopa Responsive Dystonia Central Information and support for people and families afflicted with this disorder, GTP Cyclohydrolase Deficiency and Segawa's Dystonia. Dystonia Personal experiences by Robyn and Kelly struggling with a rare disorder. Site offers information and links to doctors who may be able to help. Sup...

49. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Dystonia+Musculorum+Deformans DYSTONIA Top. Expressions DYSTONIA. Expressions using DYSTONIA dystonia musculorum deformans ? Nocturnal Paroxysmal Dystonia. Additional references. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Dystonia Musculorum Deformans

50. Dystonia.htm DYSTONIA. dystonia musculorum deformans. cerebral palsy. progressive supranuclear palsy. Wilson s disease. drugs (neuroleptics, metoclopramide and levodopa). http://www.geocities.com/davidscerri/dystonia.htm

DYSTONIA dystonia musculorum deformans cerebral palsy progressive supranuclear palsy Wilson's disease drugs (neuroleptics, metoclopramide and levodopa) click here to return to the main contents page of Differential Diagnoses in General Medicine

51. Wauu.DE: Health: Conditions And Diseases: Neurological Disorders: Movement Disor http//www.angelfire.com/ca6/Tnippy. Medicine Net A description of dystonia musculorum deformans. http//www.medterms.com/script/main http://www.wauu.de/Health/Conditions_and_Diseases/Neurological_Disorders/Movemen

Home Health Conditions and Diseases Neurological Disorders ... Movement Disorders : Dystonia Search DMOZ-Verzeichnis: All Categories Categories Onlye Kategorien: Blepharospasm Links: Abstracts: Genetics of Dystonia Idiopathic torsion dystonia, by Laurie Ozelius, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Ma. 2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995. http://www.hum-molgen.de/documents/abstracts/0070.html ADDER - Dystonia Research Information about the organization which promotes medical and patient education about movement disorders. Includes a newsletter, publications, definitions and links. http://www.dystonia.co.uk Dopa Responsive Dystonia Central Information and support for people and families afflicted with this disorder, GTP Cyclohydrolase Deficiency and Segawa's Dystonia. http://www.drdcentral.com Dystonia Webforum to discuss and comment on dystonia. Unmoderated. http://dem0nmac.mgh.harvard.edu/forum/DystoniaMenu.html Dystonia Personal experiences by Robyn and Kelly struggling with a rare disorder. Site offers information and links to doctors who may be able to help. Support for all who cross the path of this disease specifically mandibular focal dystonia. http://r.caspento.tripod.com/new_page_3.htm

52. The Dystonia Society Registered Charity - Information And Support For Sufferers dystonia is more widespread Segmental and generalised dystonia (dystonia musculorum deformans) – dystonia that affects many parts of the body Doparesponsive http://www.dystonia.org.uk/page3.html

Home About Us About Dystonia Treatments How to help Publications Useful links Membership Contact Us Guest book More pages in this section : Blepharospasm Cervical Dystonia Hemifacial Spasm Oromandibular Dystonia ... FAQ 's What is dystonia? Dystonia is the term used to describe a condition dominated by involuntary sustained muscle spasms. These spasms can affect various parts of the body and cause abnormal movements and postures, and can be extremely painful. The condition is thought to be caused by a malfunction of the central nervous system, probably in those parts of the brain called the basal ganglia. There is some evidence that there may be a malfunction in the way ‘sensory’ signals are interpreted in the brain, and how ‘motor’ signals are instigated. In primary (or ‘idiopathic’ torsion) dystonia no other functions of the brain are involved and generally, investigations reveal no identifiable cause. In a minority of cases, specialised tests can identify known causes that damage the basal ganglia, and the dystonia in these cases is called ‘secondary’ or ‘symptomatic’. Dystonia is usually classified according to the parts of the body affected. If only one part of the body is affected, such as the eyes, neck or a limb, it is called focal dystonia. If a larger region such as the neck and arms is involved, it is called segmental dystonia. If the spasms affect the arm and leg on the same side, it is known as hemidystonia.

53. Dystonie Ten tweede ter aanduiding van de ziekte die gekenmerkt wordt door dystonie als enig en op zichzelf staand symptoom dystonia musculorum deformans. http://www.dystonievereniging.nl/dystonie.htm

Wat is Dystonie ? Wat verstaan we onder dystonie? Dystonie is letterlijk vertaald: een stoornis in de spanning van een spier (=tonus). De spierspanning is vaak te hoog, maar op andere momenten weer normaal. De dystonie wordt niet alleen gekenmerkt door onwillekeurige, wisselende spierspanningen, maar ook door een verstoring van het normale samenwerkingspatroon van de betreffende spieren. Daardoor ontstaan draaiende, wringende bewegingen en ook abnormale houdingen van een of meer lichaamsdelen. De dystone bewegingen kunnen in alle lichaamsdelen optreden, zowel in rust als tijdens een willekeurig uitgevoerde beweging. Het woord dystonie wordt vaak in twee betekenissen gebruikt. Ten eerste ter beschrijving van het symptoom zelf, en om dit te onderscheiden van andere vormen van onwillekeurige spiersamentrekkingen, zoals beven of spasticiteit. Ten tweede ter aanduiding van de ziekte die gekenmerkt wordt door dystonie als enig en op zichzelf staand symptoom: dystonia musculorum deformans. Meestal valt een beginnende dystonie het eerst op bij het uitvoeren van een willekeurige beweging of het handhaven van een bepaalde houding. Zo wordt een torticollis spasmodica vaak het eerst opgemerkt tijdens zitten of staan zonder ondersteuning van het hoofd en nemen de verschijnselen toe tijdens lopen, terwijl de patiënt geen klachten heeft tijdens het rusten met het hoofd gesteund op een kussen. Een ander voorbeeld is de schrijverskramp, waarbij dystonie van de hand aanvankelijk alleen optreedt tijdens schrijven, maar na verloop van tijd vaak ook bij andere handelingen. De dystonia musculorum deformans kan beginnen met een dystonie in één been alleen tijdens het lopen, terwijl de patiënt bij het dansen, hardlopen of achteruitlopen geen enkele last heeft. Tijdens het verdere beloop breidt de dystonie zich uit naar andere lichaamsdelen en ontstaat er ook dystonie bij andere bewegingen en in rust.

54. Meest Voorkomende Vragen V1 uitbreiding van de segmentale dystonie en omvat in meer of mindere mate alle lichaamsdelen. Bijvoorbeeld dystonia musculorum deformans. http://www.dystonievereniging.nl/vragenlijst.htm

Wanneer uw vraag in deze rubriek niet beantwoord wordt kunt u telefonisch contact opnemen met een contactpersoon van het Telefonisch Lotgenotencontact of het secretariaat van onze vereniging, ofwel uw vraag schriftelijk indienen bij het secretariaat van onze vereniging via email dystonie.vereniging@wxs.nl ALGEMENE VRAGEN DYSTONIE VORMEN VAN DYSTONIE ... HOME pagina ALGEMENE VRAGEN Waar kan ik de diagnose dystonie het beste laten stellen? Welke contactpersoon zou ik kunnen spreken, die de zelfde aandoening heeft? Kan ik een second opinion aanvragen bij serieuze twijfel over de diagnose? Hoe krijg ik vergoeding voor vervoer? ... Waar kan ik terecht voor informatie over hulpmiddelen? Waar kan ik de diagnose dystonie het beste laten stellen? Antwoord Een diagnose kunt u laten stellen bij een neuroloog. terug Welke contactpersoon zou ik kunnen spreken, die de zelfde aandoening heeft? Antwoord Als u een lotgenoot wilt spreken kunt u contact opnemen met het telefonisch lotgenotencontact van onze vereniging. Zij kunnen op basis van eigen kennis en ervaring u informeren en u eventueel in verbinding brengen met een andere lotgenoot met een gelijksoortige aandoening. terug Kan ik een second opinion aanvragen bij serieuze twijfel over de diagnose?

55. Entrez PubMed genetics*; Cell Line; Drosophila melanogaster; dystonia musculorum deformans/genetics*; dystonia musculorum deformans/metabolism; Hamsters; http://www.microbialcellfactories.com/pubmed/12780349

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Biochem J. 2003 Aug 15;374(Pt 1):117-22. Related Articles, Links Characterization of human torsinA and its dystonia-associated mutant form. Liu Z, Zolkiewska A, Zolkiewski M. Department of Biochemistry, Kansas State University, 104 Willard Hall, Manhattan, KS 66506, USA.

56. Entrez PubMed Carrier Proteins/genetics*; Carrier Proteins/metabolism; dystonia musculorum deformans/genetics*; dystonia musculorum deformans/physiopathology; http://www.microbialcellfactories.com/pubmed/11498045

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Neuron. 2001 Jul 19;31(1):9-12. Related Articles, Links TorsinA: movement at many levels. Breakefield XO, Kamm C, Hanson PI. Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 02129, Boston, MA, USA. breakefield@helix.mgh.harvard.edu TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of torsinA. Torsins are members of the AAA(+) superfamily of ATPases and are present in all multicellular organisms. Initial studies suggest that torsinA is an ER protein involved in chaperone functions and/or membrane movement.

57. EXPERIENCE WITH STEREOTACTICS FOR DYSTONIA 5. Cooper 1. 20year follow up study of the neurosurgical treatment of dystonia musculorum deformans. 15. Kandel E. dystonia musculorum deformans. http://www.dystonia-support.org/la-experience with stereotactics for dystonia.ht

EXPERIENCE WITH STEREOTACTICS FOR DYSTONIA: CASE EXAMPLES Robert P. Iacono, Sandra M. Kuniyoshi, and Tony Schoonenbert Neuroscience and Movement Disorders Center, Loma Linda University Medical Center, Loma Linda, CA 92354 From: Dystonia 3: Advances in Neurology, Vol. 78 1998 Stereotactic surgical interventions in dystonia have in the past been applied to a variable population of patients with widely differing diagnoses and disease expression. These operations have included targeting various nuclei of the thalamus including Voa, Vop, Vim, centromethan (CM), the subthalamic areas H , H and zona incerta, the internal nucleus of the pallidum, and the dentate nuclei of the cerebellum (2,4,5,10,15). The choice of targets for dystonia, as for stereotactics in general, has been empiric, broadly based on past evidence of the efficacy of these targets for movement disorders in general, with no described discrimination of different targets for different presentations or diagnosis (4,17). Historically, however, it appears that the results of these operations are exquisitely sensitive to target and technique, as evidenced by their having fallen out of clinical use, following reports of unsatisfactory results of some operations, compounded by the inability of surgeons to easily reproduce another surgeon's successful rendition of the operation (5,16,19). The failure of thalamotomy to consistently alleviate the symptoms of primary generalized dystonia as reported by Yamashiro and Tasker in 25 patients in 1993, and others stands in contrast to our pallidotomy dystonic case reported here (4,12,20,24). Although Cooper and others report numerous good results for dystonia with both pallidotomy and thalamotomy, the actual targets obtained and a correlation with results is less clear-cut as these operations were accomplished before magnetic resonance imaging (MRI) or computed tomography (CT) were available to evaluate pre- and postoperative targets (5,10, 16). Of the few patients treated for writer's cramp with stereotactics, thalamotomy) shown to be particularly successful, suggesting the significant influence of the thalamus in putatively cortically mediated dystonias (22). The few additional cases reported here stress the limited utility, and to broaden the knowledge base of stereotactics for dystonia.

58. Library Table Of Contents DYSTONIA (DYT1) Idiopathic Torsion Dystonia; dystonia musculorum deformans; Torsion Dystonia 1, Dominant; ChildhoodOnset Dystonia; Limb-Onset Dystonia 1 http://www.dystonia-support.org/Library Table of Contents.htm

LIBRARY TABLE OF CONTENTS NOTE: These articles may take a little more time to download because of graphs, charts, etc. But are well worth the wait. PUBLISHED MEDICAL ARTICLES THE DYT1 PHEONOTYPE AND GUIDELINES FOR DIAGNOSTIC TESTING EARLY-ONSET PRIMARY DYSTONIA (DYT1) Idiopathic Torsion Dystonia; Dystonia Musculorum Deformans; Torsion Dystonia 1, Dominant; Childhood-Onset Dystonia; Limb-Onset Dystonia NEURONAL ACTIVITY IN THE BASAL GANGLIA IN PATIENTS WITH GENERALIZED DYSTONIA AND HEMIBALLISMUS WRITER'S CRAMP A Focal Dystonia Etiology, diagnosis and treatment: MUSCLE, TENSION DYSPHONIA AND SPASMODIC DYSPHONIA: The Role of Manual Laryngeal Tension Reduction in Diagnosis and Managemen INVOLVEMENT OF RESPIRATORY MUSCLES IN ADULT-ONSET DYSTONIA: A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY NOTE: These are excerpts from various articles regarding respiratory disturbances associated with dystonia. For those of you experiencing this, we invite you to share this information with your physician. HANDBOOK OF MOVEMENT DISORDERS EXPERIENCE WITH STEREOTACTICS FOR DYSTONIA: CASE EXAMPLES TREMORS Classifications of Tremors TIZANIDINE IN CRANIAL DYSTONIA OROFACIOMANDIBULAR AND LINGUAL DYSTONIA (MEIGE SYNDROME) MUSCLE AFFERENT BLOCK FOR THE TREATMENT OF OROMANDIBULAR DYSTONIA VARIABILITY OF THE IMMUNOLOGIC AND CLINICAL RESPONSE IN DYSTONIC PATIENTS IMMUNORESISTANT TO BOTULINUM TOXIN INJECTIONS DYSTONIA AND DYSKINESIA TREATMENT OF DYSTONIA IMMUNOHISTOCHEMICAL LOCALIZATION AND DISTRIBUTION OF TORSIN A IN NORMAL HUMAN AND RAT BRAIN

59. Dy : On Medical Dictionary Online Dystonia Dystonia Deformans Musculorum Dystonia Deformans Progressiva Dystonia Disorder Dystonia Disorders dystonia musculorum deformans Dystonia Syndrome http://www.online-medical-dictionary.org/?q=~Dy

60. Idiopathic Familial Dystonia : On Medical Dictionary Online These disorders are generally divided into generalized dystonias (eg, dystonia musculorum deformans) and focal dystonias (eg, writer s cramp). http://www.online-medical-dictionary.org/?q=Idiopathic Familial Dystonia

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