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         Torsion Dystonia:     more detail
  1. Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia? by C. D Marsden, 1976

61. CCHS Clinical Digital Library
document; Tardive Dyskinesia Access document; Hemifacial Spasm Access document; Idiopathic torsion dystonia Access document; Dopamine
http://cchs-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:

62. THE MERCK MANUALSECOND HOME EDITION, Dystonia In Ch. 91
Types and Symptoms of Dystonia. Idiopathic torsion dystonia refers to dystonia that has no known cause. Episodes begin between the ages of 6 and 12.
http://www.merck.com/mrkshared/mmanual_home2/sec06/ch091/ch091j.jsp

63. Health Care Provider Torsion Dystonia Condition In Kit Medical Research Employee
long term care aids hiv inflammatory pelvic american college journal health education. department of health institute of optimum
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64. Medicare Torsion Dystonia Nutrition Article Sexual Alzheimers Picture First Aid
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65. Health Program Food Health Department Of Health Torsion Dystonia Nutrition Medic
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66. Health Sports Depot Torsion Dystonia Atoz Health Medical Errors Childhood Low Ca
cancer european journal wellness fort drum. hhs center center control health national prevention statistics foot hand human in mouth
http://www.healthcondition.us/atoz-health-society-for-research_791747.html
cancer european journal wellness fort drum
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67. Nature Genetics
RETURN TO September 1997 TABLE OF CONTENTS. volume 17 number 1 page 40 The earlyonset torsion dystonia gene (DYT1) encodes an ATP-binding protein
http://www.nature.com/ng/wilma/v17n1.872105457.html
articles
RETURN TO

September 1997

TABLE OF

CONTENTS
volume 17 number 1 page 40
The early-onset torsion dystonia gene encodes an ATP-binding protein
Laurie J. Ozelius , Jeffrey W. Hewett , Curtis E. Page , Susan B. Bressman , Patricia L. Kramer , Christo Shalish , Deborah de Leon , Mitchell F. Brin , Deborah Raymond , David P. Corey , Stanley Fahn , Neil J. Risch , Alan J. Buckler , James F. Gusella
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

Molecular Neurogenetics Unit, Massachusetts General Hospital, and Departments of Neurology and Genetics and Neuroscience Program, Harvard Medical School, Boston, Massachusetts 02114, USA.

68. Conditions Cold Torsion Dystonia Prevention Berkeley Letter Long Term Care Healt
jacobs institute of mental health fact uk medical research. health care provider craniocarpal-tarsal dysplasia see freeman sheldon
http://www.health-care-provider.us/lung-restricted-medical-research_364158.html
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69. Disease Hair Loss Natural Health Care Torsion Dystonia Health Information Produc
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70. NeuroCAST - Sessions
Earlyonset dystonia (Generalized Dystonia or Primary torsion dystonia) usually begins in childhood or adolescence, typically around 12 years, although the age
http://www.neurocast.com/site/content/sessions_Dystonia.asp
Dystonia is a neurological movement disorder characterized by sustained muscle contractions that often induce uncontrollable twisting or repetitive movements, and abnormal postures and positions. The disorder may affect the entire body or only a selected part of it, such as the eyes, neck, arms, or legs. Dystonia may also be associated with pain. It tends to consistently affect the same groups of muscles, thus producing rather predictable movements over time. Initially, dystonia tends to be precipitated by specific movements or tasks, though later it can be activated by sustained movements, and in advanced stages can be present at rest. Symptoms may arise as a result of dysfunction of the basal ganglia or thalamus, parts of the brain responsible for the modulation of movement. Because of the complexity of the condition, it may be misdiagnosed as other disorders, such as stress, stiff or "wry" neck, or a psychogenic disorder. In fact, dystonia is one of the most common movement disorders. According to the Dystonia Medical Research Foundation: Dystonia is estimated to be six times more prevalent than Huntington's Disease, ALS, or Muscular Dystrophy . . . yet as few as five percent of the over 300,000 persons in North America estimated to be affected have been correctly diagnosed.

71. Sue Golding Graduate Division @ AECOM - Ozelius, Laurie
torsion dystonia is a neurologic syndrome characterized by involuntary twisting and repetitive movements due to loss of motor control in different body parts.
http://www.aecom.yu.edu/home/sggd/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.

72. Overclocking By Gregory Cochran
torsion dystonia is caused by a dominant gene with low penetrance.. The muscles. torsion dystonia does not cause retardation not hardly.
http://www.jerrypournelle.com/reports/cochran/overclocking.html
Chaos Manor Special Reports Overclocking Gregory Cochran Thursday, December 12, 2002 Email Jerry Sections Chaos Manor Home View From Chaos Manor Reader Mail Alt.Mail Columns Special Reports Picture Gallery Links Table of Contents What's New ... Getting the Gini out of the Test Tube Gregory Cochran is well known for taking evolution seriously: that is, for questioning how disorders that carry a heavy genetic burden (make having and raising children greatly more difficult) can possibly be "hereditary" in the usual sense. Schizophrenia is one example. His hypothesis is that absent special reasons for selection for otherwise burdensome tendencies or afflictions, these are more likely to be contagious diseases rather than genetically transmitted. In the following essay he looks at overclocking the human system and possible consequences. Everyone knows that Ashkenazi have the highest IQ scores on average of any of the breeds of man. There are many reasons postulated for this including "breeding" for smart in the same way that Jersey cattle are bred for milk production. Might we learn how to get smarter without waiting generations? And

73. Dystonia / The Family Village Library
Related Diagnosis Idiopathic torsion dystonia (ITD), Generalized Dystonia, Segawa s Dystonia, XLinked Dystonia, Blepharospasm, Spasmodic Torticollis
http://www.familyvillage.wisc.edu/lib_dyst.htm
Dystonia
Who to Contact
Where to Go to Chat with Others

Learn More About It

Web Sites
...
Search Google for "Dystonia"
Who to Contact
Dystonia Medical Research Foundation
One E Wacker Drive, Suite 2430
Chicago, IL USA 60601-1905
312-755-0198 (phone)
800-361-8061 (In Canada)
312-803-0138 (fax)
E-mail: dystonia@dystonia-foundation.org Web: http://www.dystonia-foundation.org Related Diagnosis: Idiopathic Torsion Dystonia (ITD), Generalized Dystonia, Segawa's Dystonia, X-Linked Dystonia, Blepharospasm, Spasmodic Torticollis, Oromandibular dystonia (Meige's syndrome) Spasmodic dysphonia. Dystonia Medical Research Foundation (DMRF) has a mission to advance research into the cause of and cure for dystonia; to create physician and public awareness; and to sponsor patient support groups. The Foundation serves people with dystonia, and their friends and family. They have local support groups, and will provide materials or assistance in starting a local group. Call to locate the group nearest you. They also have a parents' directory. Dystonia Medical Research Foundation publishes Dystonia Dialogue four times a year at no cost to members. The DMRF offers several pamphlets about various types of dystonia, including: Spasmic Torticollis, Spasmodic Dysphonia, and Blepharospasm, and "8-18", A Guidebook for Young People with Dystonia, and a Guidebook for Families: Special Education Rights. DMRF has books and videos for distribution and you can also request a reading list of articles or books pertaining to dystonia.

74. Dystonia-support4u.co.uk
Overview A new study links the protein that is impaired in the movement disorder torsion dystonia to a problem that is common to many neurological diseases.
http://www.dystonia-support4u.co.uk/spotlight.php?number=25

75. Never Die A Nerve - Writer's Cramp
Writer s cramp or Scrivener s palsy, an idiopathic torsion dystonia (ITD), is an adultonset dystonia of the writing arm, heretofore, associated with unclear
http://musclejointnerve.com/writers_cramp.html

Books
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    Never Die a Nerve
    Writer's Cramp - Origin, Treatment, and Prevention™
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    The first scientific documentation of a successful treatment of writer's cramp.
    Dystonia are movement disorders characterized by sustained contractions, twisting and spastic movements and postures which usually increase with motion.
    Writer's cramp or Scrivener's palsy, an idiopathic torsion dystonia (ITD), is an adult-onset dystonia of the writing arm, heretofore, associated with unclear cause and mechanism.
    Never Die A Nerve™ offers scientific and clinical evidences that the origin of writer's cramp is in the forearm muscles and not in the brain as it is commonly believed. It advances the theory that writer's cramp is caused by repetitive strain injuries and cumulative trauma disorders of the nerves in the forearm and is anatomically distinct from the symptomatic torsion dystonia.
    It further hypothesizes that other ITD such as spasmodic torticollis or wry neck, blepharospasm or dystonia of eye muscles, oromandibular dystonia or dystonia of the jaw, lingual dystonia or dystonia of the tongue, and dystonic dysphonia or dystonia of the vocal cord obey the above theory. It offers a different approach and effective treatment of writer's cramp and perhaps for other ITD.
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76. 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

77. Early-Onset Primary Dystonia (DYT1)
DYT1) (Idiopathic torsion dystonia; Dystonia Musculorum Deformans; torsion dystonia 1, Dominant; ChildhoodOnset Dystonia; Limb-Onset Dystonia) Authors
http://www.dystonia-support.org/LA-Early-Onset Primary Dystonia (DYT1).htm
Early-Onset Primary Dystonia (DYT1)
(Idiopathic Torsion Dystonia; Dystonia Musculorum Deformans; Torsion Dystonia 1, Dominant; Childhood-Onset Dystonia; Limb-Onset Dystonia)
Authors: Deborah de Leon, MS; Susan B Bressman, MD
Last update 30 March 1999
Funded by the NIH - Developed at the University of Washington, Seattle Thanks to Deborah de Leon and Dr. Susan B. Bressman, for contributing this article to be featured on this website. SUMMARY Disease Characteristics:
Early-onset primary dystonia (DYTI) typically presents before age 21 years with involuntary sustained muscle contractions that cause posturing of a foot, leg, or arm. The contractions frequently, but not invariably, generalize to other body regions. No other neurological abnormalities a re present, except for postural arm tremor. Disease severity varies considerably within the same family, and isolated writer's cramp may be the only sign. Diagnosis/Testing: DYT1 is, the most common cause of early-onset primary dystonia and is, diagnosed by a DNA-based test showing a 3 base pair GAG deletion in the torsin A gene (chromosomal locus 9q34). Genetic Counseling: DYT1 is inherited in an autosomal dominant manner. Offspring of an affected individual or an asymptomatic gene carrier have a 50% chance of inheriting the disease-causing mutation, but only a 30-40% chance of developing clinical findings. Prenatal testing is available.

78. Penn State Faculty Research Expertise Database (FRED)
Childhood Torsion Disease, Idiopathic torsion dystonia. OppenheimZiehen Disease, Progressive Torsion Spasm. torsion dystonia, Dystonia Deformans Musculorum.
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D004422

79. The Bachmann-Strauss Dystonia & Parkinson Foundation, Inc.
In contrast to the genetic cause of idiopathic torsion dystonia, the torsinA locus, esarcoglycan mutations incontrovertibly cause Dystonia because of the loss
http://www.dystonia-parkinsons.org/research.shtml

Research

Think Tank

Fellowship

Collaboration
...
Resources

2nd Annual Dystonia Think Tank An international group of 30 scientists and physicians came together in New York this past November to escalate progress in finding the causes of and cure for Dystonia. Titled “New Directions in Dystonia Research: DYT1 Dystonia and the Role of TorsinA,” this was the second year that we held a think tank to enable scientists working directly on movement disorders to discuss their hypotheses, probe investigations and findings and suggest possible new directions. Click here for Executive Summary: New Directions in Dystonia Research. Mitchell F. Brin Fellowship Thomas Dino Haelbig, M.D. The following grants, awarded in 2002, were made for research that will be conducted in 2003. Funding was expanded this year to include researchers outside of The Mount Sinai Medical Center to further advance the inroads that are being made. Dystonia THE ROLE OF TorsinA IN PROTEIN DEGRADATION
Kevin McNaught, Ph.D.
Mount Sinai Medical Center HOW DOES LOSS OF E-SARCOGLYCAN FUNCTION CAUSE DYSTONIA?

80. PharmGKB: Dystonia Musculorum Deformans
Deformans Progressiva; Dystonia, Idiopathic Torsion; Dystonias, Idiopathic Torsion; Dystonias, Torsion; Idiopathic torsion dystonia; Idiopathic Torsion
http://www.pharmgkb.org/do/serve?objId=PA443971&objCls=Disease

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