61. Log In Problems Idiopathic torsion dystonia in children may be manifested as abnormal leg Generalized dystonia (as in idiopathic torsion dystonia, formerly known as http://www.medscape.com/viewarticle/410595_print

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62. Log In Problems patients with idiopathic torsion dystonia and identified genetic linkage tochromosome and late, craniocervicalonset idiopathic torsion dystonia. http://www.medscape.com/viewarticle/410595_4

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63. The Dystonias Fact Sheet Some patterns of dystonia are defined as specific syndromestorsion dystonia,previously called dystonia musculorum deformans or DMD, is a rare, http://www.healthieryou.com/dystonia.html

Select One Contact CME? Order? Register? Place an Ad? Print Pages? More... ADD/ADHD Alcoholism Alzheimer's Anorexia Anxiety Bipolar Disorder Borderline Bulimia Children Compulsive Dementia Depression Dissociation Drug Abuse Eating Disorders Fear Forgetfulness Hyperactivity Mania Manic-Dep Mood Disorder Narcissistic Neurology Obsessive OCD Panic Paraphilias Phobia Personality Psychosis PTSD Schizophrenia Seasonal Mood Sexual Issues Social Phobia Suicidal Tic Disorders Violence The Dystonias Fact Sheet What are the dystonias? The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Diminished intelligence and emotional imbalance are not usually features of the dystonias. What are the symptoms? Early symptoms may include a deterioration in handwriting after writing several lines, foot cramps, and a tendency of one foot to pull up or drag after running or walking some distance. The neck may turn or pull involuntarily, especially when tired. Other possible symptoms are tremor and voice or speech difficulties. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable and widespread and be unrelenting; sometimes, however, there is little or no progression.

64. Peripheral Dystonia Peripheral dystonia. By Roongroj Bhidayasiri and Daniel D Truong. ICD CodeIdiopathic torsion dystonia 333.6 Illustrations. , Peripheral dystonia http://www.medlink.com/PublicCIP.ASP?access=public&UID=MLT002IY&code=

65. 050105 - Botulinum Toxin Therapy Idiopathic torsion dystonia. 333.7. Symptomatic torsion dystonia. 333.8 333.89.Fragments of torsion dystonia. 334.1. Hereditary spastic paraplegia http://www.empireblue.com/physician/physician_library/medical_policies/prescript

Online Services Working With Empire Library Empire's Plans ... Empire's Medical Policies / Botulinum Toxin Therapy Log in Register Submit/search claims, precertification, member search, billing, search EOBs, reference center, and more Blue Tools SM Find a Doctor or Specialist View Physician Formulary Go to The Pharmacy Search Empireblue.com CLINICAL Botulinum Toxin Therapy Effective Date: 04/25/03 Revision Date: 04/25/03 Section: Prescription Drug Subsection: Prescription Drug Definition Policy Medical Appropriateness References ... Diagnosis Limitations Definition Botulinum is a family of toxins produced by the anaerobic organism Clostridia Botulinum. The toxin itself usually causes severe often-fatal food poisoning. There are several distinct serotypes.* When injected intramuscularly botulinum toxin reduces muscle tone by interfering with the release of acetylcholine from nerve endings. Clinical studies have also shown that Botox can provide symptomatic relief in a variety of other conditions characterized by involuntary spasm of certain muscle groups. Botox can be harmful in patients with myasthenia gravis and certain myopathies. It is also contraindicated in patients receiving aminoglycosides.

66. E05.01.05 333.6, Idiopathic torsion dystonia. 333.7, Symptomatic torsion dystonia. 333.81 333.89, Fragments of torsion dystonia http://www.empireblue.com/medical_policies_short/prescription_drugs/050105.shtml

NARRATIVE Botulinum Toxin Therapy Effective Date: 11/05/04 Revision Date: 11/05/04 Section: Prescription Drug Subsection: Prescription Drug Definition Policy Medical Appropriateness Criteria Diagnosis Limitations ... References Definition Botulinum is a family of toxins produced by the anaerobic organism Clostridia Botulinum. The toxin itself usually causes severe often-fatal food poisoning. There are several distinct serotypes.* When injected intramuscularly botulinum toxin reduces muscle tone by interfering with the release of acetylcholine from nerve endings. Clinical studies have also shown that Botox can provide symptomatic relief in a variety of other conditions characterized by involuntary spasm of certain muscle groups. Botox can be harmful in patients with myasthenia gravis and certain myopathies. It is also contraindicated in patients receiving aminoglycosides. * Botulinum toxin type A and the newer Botulinum toxin type B are available. Policy Botulinum toxin injections are medically appropriate for the following conditions: Dystonias or spasticity of the peripheral skeletal muscles including: cervical dystonia (torticollis) laryngeal dystonia symptomatic torsion dystonia hereditary spastic paraplegia limb spasticity infantile cerebral palsy post-CVA pharyngeal dystonia Strabismus Blepharospasm Laryngeal spasm Esophageal achalasia Chronic anal fissure Hyperhidrosis Spasticity due to Multiple Sclerosis Although not a complete list Botulinum toxin injection is not medically appropriate for any of the following conditions. The results of studies of botulinum injections for the following conditions in the medical literature vary and further studies are needed before clinical effectiveness can be proven.

67. Gary Heiman, Ph.D., Bibolography Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.Ann Neurol 42 670—673, 1997. Knowles JA, Fyer AJ, Vieland VJ, Weissman MM, http://cpmcnet.columbia.edu/dept/sph/epi/gcd/Steering/heiman-refs.html

TRAINING PROGRAM Description People Application Stipend Publications for Gary A. Heiman, Ph.D. Knowles JA, Fyer AJ, Vieland VJ, Weissman MM, Hodge SE, Heiman GA, Haghighi F, de Jesus GM, Rassnick H, Preud'homme-Rivelli X, Austin T, Cunjak J, Mick S, Fine LD, Woodley KA, Das K, Maier W, Adams PB, Freimer NB, Klein DF, and Gilliam TC. Results of a genome-wide genetic screen for panic disorder. Am J Med Genet (Neuropsychiat Genet) 81: 139-147, 1998. Saunders-Pullman R, Shriberg J, Heiman GA, Raymond R, Wendt K, Kramer P, Schilling K, Kurlan R, Klein C, Ozelius LJ, Risch NJ, PhD and Bressman SB. The spectrum of myoclonus dystonia: Possible association with OCD and alcohol dependence. Neurology 58: 242-245, 2002. Ahsan H, Hodge SE, Heiman GA, Begg MD and Susser ES. Relative risk for genetic associations: the case-parent triad as a variant of case-cohort design. Int. J. Epidemiol. 31(3): 669-678, 2002. Hamilton SP, Fyer AJ, Durner, M, Heiman GA, de Leon AB, Hodge SE, Knowles JA, and Weissman MM. Further genetic evidence for a panic disorder syndrome mapping to chromosome 13q. Proc Natl Acad Sci 100(5): 2550-2555, 2003. Weissman MM, Gross R, Fyer, AF, Heiman GA, Gameroff MJ, Hodge SE, Kaufman D, Kaplan SA and Wickramaratne P. Interstitial cystitis and panic disorder: A potential genetic syndrome. Arch Gen Psych 61:273 - 279, 2004.

68. Xandra Breakefield Lab At Mass General Hospital torsion dystonia and TorsinA. TorsinA is a novel AAA+ protein identified in thesearch for mutations underlying the hereditary movement disorder, http://www.massgeneral.org/breakefieldlab/ncsB_torsiondystonia.htm

Home Research Projects Personnel Publications ... Links Torsion Dystonia and TorsinA

69. PsiTri - Search Results Search results for keyword hc=(torsion dystonia) Health condition TouretteSyndrome; torsion dystonia +; Tardive Dyskinesia +; Huntington Disease http://psitri.stakes.fi/search?search_query=hc=(TORSION DYSTONIA)

70. Welcome To University Of Tennessee Medical Center. Generalized dystonia (idiopathic torsion dystonia) This rare, progressive formof dystonia Some forms of dystonia, such as idiopathic torsion dystonia, http://www.utmedicalcenter.org/DepartmentSystem/xq/asp/id.9E2E2D48439444529086BE

//JavaScript Back Dystonias (Torticollis) Dystonia is a general term used to describe disorders characterized by involuntary spasms and muscle contractions that cause abnormal movements and postures. An estimated 250,000 North Americans have this non-contagious disorder. Primary dystonia - that is, dystonia that isn't a symptom of some other nervous system disorder - does not affect the patient's consciousness, sensation or intellectual function. More information about dystonias What are the types of dystonia? Who gets dystonia, and what causes it? What are the treatments for dystonia? What are the types of dystonia? There are a wide range of different types of dystonias. Generalized dystonia affects most or all of the body. Focal dystonia involves one body part, multifocal dystonia involves two or more unrelated body parts, and segmental dystonia affects two more or adjacent parts of the body. Hemidystonia , often the result of a stroke, involves the arm and the leg on the same part of the body. Dystonia is sometimes a symptom of other diseases of the central nervous system, such as cerebral palsy. Some types of dystonia are defined as specific syndromes, including the following:

71. Discussion Forum Full Version Familial torsion dystonia Discussion Forum Archives ofCHILDNEURO@listserver.itd.umich.edu Clinical Practice http://www.child-neuro.org.uk/forums/lofiversion/index.php/t15.html

Help Search Member List Calendar Full Version: Discussion Forum Discussion Forum Child Neurology Trainees Area (1 posts) (118 posts) This is a "lo-fi" version of our main content. To view the full version with more information, formatting and images, please click here Invision Power Services, Inc.

72. %224500 DYSTONIA MUSCULORUM DEFORMANS 2; DYT2 (1980) ascertained 42 cases of torsion dystonia in Israel (41 Jewish and 1 Druze (1976) observed torsion dystonia in an inbred Spanish gypsy family. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:224500] -e

73. %602124 DYSTONIA 7, TORSION; DYT7 Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneousgroup The first gene identified for classic idiopathic torsion dystonia, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:602124] -e

74. Dystonia This is also known as primary torsion dystonia or dystonia musculorum deformans . Lateonset primary torsion dystonia or focal dystonia is inherited in a http://www.netdoctor.co.uk/diseases/facts/dystonia.htm

Search: All NetDoctor Diseases Medicines NetDoctor.co.uk Home News and features News News archive Newsletter Features Encyclopaedia Diseases Examinations Medicines Premium services SMS services StayQuit thediet Health centres ADHD Allergy and asthma Children's health Depression ... 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 Written by Dr Helen Hanson , Movement Disorders Unit, King's College Hospital, London and 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? It is estimated that there are more than 38,000 people in the UK affected with dystonia. It can be very difficult to diagnose and many doctors will never have seen someone with it before. Therefore, the actual number of people with dystonia may be much higher than estimated.

75. Dystonia When primary torsion dystonia is caused by a GAG deletion in the TOR1A gene Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family. http://lansbury.bwh.harvard.edu/Literature/Review/dystonia.htm

Index Note: Keyword search: torsin (i.e. Search Criteria = Dystonia + torsin) (57 References) Zorzi, G., B. Garavaglia, et al. (2002). "Frequency of DYT1 mutation in early onset primary dystonia in Italian patients." Mov Disord Thirty Italian patients with sporadic, early-onset, primary dystonia were screened for the DYT1 mutation. Five patients were positive (mean age at onset, 8 years); two had the typical phenotype, two a generalised dystonia also involving the cranial muscles, and one a segmental dystonia. In the other 25 patients (mean age at onset, 7.7 years), dystonia was generalised in 22 patients and remained segmental in three. Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early-onset primary dystonia. Ziefer, P., J. Leung, et al. (2002). "Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat." Brain Res Mol Brain Res Deletions within the TOR1A gene cause early-onset (DYT1) torsion dystonia. We have cloned and sequenced the rat cDNA homologue of TOR1A and found a 91% identity with the human sequence. Northern blot analysis detects a single transcript of approximately 1.5 kb. In situ hybridization reveals a widespread distribution of torsinA mRNA within brain. No mutations were identified in the coding region of the gene in the genetically dystonic (dt) rat. Opal, P., R. Tintner, et al. (2002). "Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm."

76. Health/Conditions And Diseases/Neurological Disorders/Movement Disorders/Torsion Medicine Net torsion dystonia A brief description of this disorder, its onsetand symptoms. url www.medterms.com/script/main/art.asp?articlekey=58. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Neurological_

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77. WPS Health Insurance 784.49 784.5, Idiopathic torsion dystonia Symptomatic torsion dystonia Spasmodictorticollis Other fragments of torsion dystonia Torticollis, unspecified http://www.wpsic.com/medicare/policies/wisconsin/inj018_billing.shtml

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78. Dystonia 4 Update on the Genetics of Primary torsion dystonia Loci DY76, DYT7, and DYT13 and Abnormal Brain Networks in Primary torsion dystonia / Maren Carbon, http://ntuml.mc.ntu.edu.tw/image-newbooks/2145682.htm

Dystonia 4 Contributing Authors Preface Acknowledgments Dystonia: Abnormal Movements Result from Loss of Inhibition / Mark Hallett ¡A Sensory Deficits in Dystonia and Their Significance / Ryuji Kaji, Nagako Murase, Ryo Urushihara, Kotaro Asanuma ¡A Focal Hand Dystonia May Result from Aberrant Neuroplasticity / Nancy N. Byl ¡A Basal Ganglia Neuronal Discharge in Primary and Secondary Dystonia / Manjit K. Sanghera, Robert G. Grossman, Christopher G. Kalhorn, Winifred J. Hamilton, William G. Ondo, Joseph Jankovic ¡A Evidence of Widespread Impairment of Motor Cortical Inhibition in Focal Dystonia: A Transcranial Magnetic Stimulation Study in Patients With Blepharospasm and Cervical Dystonia / Raif Cakmur, Berril Donmez, Fatma Uzunel, Huriye Aydin, Serdar Kesken ¡A Modulation of Cortical Activity by Repetitive Transcranial Magnetic Stimulation (rTMS): A Review of Functional Imaging Studies and the Potential Use in Dystonia / Sasa R. Filipovic, Hartwig R. Siebner, James B. Rowe, Carla Cordivari, Willibald Gerschlager, John C. Rothwell, Richard S. J. Frackowiak, Kailash P. Bhatia ¡A Dopamine Transmission in DYT1 Dystonia / Sarah J. Augood, Z. Hollingsworth, David S. Albers, Lichuan Yang, Joanne C. Leung, Xandra O. Breakefield, David G. Standaert

79. Sue Golding Graduate Division @ AECOM - Ozelius, Laurie torsion dystonia is a neurologic syndrome characterized by involuntary The earlyonset torsion dystonia gene (DYT1) encodes an ATP-binding protein. http://www.aecom.yu.edu/phd/faculty/ozelius.htm

Department of Molecular Genetics ULLMANN BLDG - ROOM 1211 718 430-2917 office x 2918 lab; ozelius@aecom.yu.edu Molecular Neurogenetic Studies of Movement Disorders Torsion dystonia is a neurologic syndrome characterized by involuntary twisting and repetitive movements due to loss of motor control in different body parts. Hereditary cases do not appear to have any associated neuropathology, but secondary dystonias implicate dysfunction of the basal ganglia in the brain. There are several clinically and genetically distinct subtypes of hereditary dystonia, most of which are inherited as autosomal dominant traits with reduced penetrance (i.e. individuals can carry the disease gene but not express the trait), resulting from over 13 different genes (only three of which are cloned). We have identified a gene (DYT1, TOR1A) for the early onset form of dystonia, in which a 3-bp deletion in the coding region is uniquely associated with almost all cases, regardless of ethnic background or surrounding haplotype. This deletion results in the loss of one of a pair of glutamic acids near the carboxy terminus of a novel protein, torsinA. The protein bears an ATP-binding domain with distant similarity (25-30%) to the heat shock protein (HSP) superfamily and has related homologues in nematode, Drosophilia, zebra fish, rat, mouse and humans. As a first step in understanding the function of this protein, we are generating a transgenic mouse model in an attempt to replicate a genetically authentic animal model for this disease. We are also interested in exploring the role that the torsin related mammalian genes (TOR2A and 3A) may play both in other forms of dystonia and in the reduced penetrance.

80. Torsion Dystonia | Www.somethingjewish.co.uk torsion dystonia. The tragedy of dystonia, a disease affecting movement control, One mutation in the gene appears to be the cause of torsion dystonia in http://www.somethingjewish.co.uk/articles/371_torsion_dystonia.htm

HOME CONTACT US JOIN OUR FREE MAILING LIST JEWISH BLOGS ... WORLD NEWS SEARCH Home Page About Us Register with us Fun Stuff ... Suzie Gold Last Updated: >>More from SJ Health E-mail this to a friend Torsion Dystonia The tragedy of dystonia, a disease affecting movement control, may be best described through the brief case history of a young girl. Her early development was quite normal, but at age six she complained of difficulty walking. Medical evaluation first revealed no explanation, and the problem was mistakenly considered psychological. However, her torsion spasms progressed and by age 10 she could hardly walk. At age 11, the dystonia was generalized, her limbs became rigid and contracted, and she had to rely on a wheelchair for mobility. By age 12, she required help for all her daily living activities; she could not feed or dress herself or get in or out of bed unassisted. However, her voice and her mind remained normal. The earliest description of familial dystonia may have been in 1907 by a psychiatrist-in-training who reported on two brothers and a sister who were hospitalized for "hysterical" torsion spasms. One brother committed suicide in the institution, the sister eventually died of the disease, but the second brother was discharged after several years and later married and had an affected son and daughter. Life expectancy for individuals with dystonia is usually normal. Some medications have been found to be useful in a proportion of patients, particularly children. Injections of certain drugs into contracting muscles in order to weaken them can be helpful in those who have dystonia limited to only one or two parts of the body. Brain surgery may be useful in some cases of severe intractable dystonia.

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