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

21. Healthfinder® - Torsion Dystonia
Carefully selected government and nonprofit health information on torsion dystonia.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=863&show=1

22. Torsion Dystonia
torsion dystonia is a rare inherited disease that causes sustained, twisting spasms.These spasms may
http://my.webmd.com/hw/health_guide_atoz/tv7896.asp
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Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Torsion dystonia Torsion dystonia is a rare inherited disease that causes sustained, twisting spasms. These spasms may only affect one limb at first but often spread to other limbs and the midsection. Torsion dystonia is usually diagnosed between the ages of 6 and 16 and, once diagnosed, progresses rapidly. Torsion dystonia does not affect mental functioning. It is more common in people of Jewish heritage. Treatment of torsion dystonia includes medications to control muscle spasms. Sometimes brain surgery is done. Genetic testing is available to identify carriers of the disease and help guide decisions about having children. To back to the top Torsion dystonia Previous Next Search the Help Last updated: May 27, 2005

23. Dystonia
torsion dystonia. Disorder Subdivisions. Generalized Dystonia; Primary Dystonia;Earlyonset Dystonia; Childhood-onset Dystonia; Dopa-responsive Dystonia
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Who We Are About WebMD Site Map You are in All Conditions ADD/ADHD Allergies Alzheimer's Arthritis Asthma Back Pain Bipolar Disorder Breast Cancer Cancer Cholesterol Management Dental Depression Diabetes Epilepsy Eye Health Heart Disease Hepatitis HIV/AIDS Hypertension Men's Conditions Mental Health Migraines/Headaches Multiple Sclerosis Osteoporosis Parkinson's Sexual Conditions Stroke Weight Control Women's Conditions Health Topics Symptoms Medical Tests Medications ... For a Complete Report Dystonia Important It is possible that the main title of the report Dystonia 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 Writer’s Cramp 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

24. DMRF: Forms Of Dystonia: Early-Onset Generalized Dystonia
Historically, earlyonset generalized dystonia has also been referred to asidiopathic torsion dystonia and dystonia musculorum deformans. Back to top
http://www.dystonia-foundation.org/defined/early.asp
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What is it?
Early-onset generalized dystonia, the most common hereditary form of dystonia, is characterized by the twisting of the limbs, specifically the foot/leg or hand/arm. The spasms may spread to involve twisting contractions of other parts of the body.
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Symptoms
Symptoms in early-onset generalized dystonia can range from twisted postures, turning in of the foot or arm, muscle spasms, unusual walking with bending and twisting of the torso, rapid, sometimes rhythmic, jerking movements; and progression of symptoms leading to sustained or fixed postures. Because the legs and trunk are so commonly affected in early-onset generalized dystonia, abnormal gait may be common. Factors such as age and site play a significant role in the progression of early-onset generalized dystonia. The younger the age of onset, the more likely the dystonic symptoms will begin in one of the legs, spread upward to other areas, and possibly become generalized. Symptoms commonly begin with a specific action, that is, the abnormal movements appear with a specific action, and are not present at rest. For example, if it begins in one leg, the symptoms may only be present when walking and disappear when the child runs or walks backwards.

25. N.C.M.G. Ireland | Early Onset Torsion Dystonia 1 Service Description.
The National Centre for Medical Genetics provides a comprehensive service forall patients and families in the Republic of Ireland affected by or at risk of
http://www.genetics.ie/molecular/dyt1/
@import "../../css/layout.css"; home molecular genetics Early Onset Torsion Dystonia 1
National Centre for Medical Genetics
Early Onset Torsion Dystonia 1
Background and Standard Service Information
Early onset torsion dystonia is an autosomal dominant disorder due to a mutation in the gene on chromosome 9q34. Penetrance is low with only around 30% of individuals with a mutation expressing the disease. However penetrance varies between families. A 3bp GAG deletion in the gene is the only mutation so far detected in a large number of patients from different ethnic backgrounds. represents only one of a clinically and genetically heterogeneous group of idiopathic torsion dystonias. Most patients with atypical presentation for do not have the GAG deletion.
Essential referral information
In addition to supplying standard patient and referral information, the following should be clearly indicated:
  • Any family history, including names, dates of birth and genetics test results if available.
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    Blood (3-5ml) in EDTA.

    26. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Torsion Dyst
    Gene torsion dystonia is caused by mutations in the DYT1 gene, which is located Clinical manifestations of torsion dystonia are involuntary sustained
    http://www.jewishgeneticscenter.org/what/ashkenazi/torsion2.asp
    Ashkenazi Disorders: Mendelian
    Torsion Dystonia Gene: Torsion dystonia is caused by mutations in the DYT1 gene, which is located at 9q34. It encodes torsinA, an ATP-binding protein that resembles a heat-shock protein. It is dominantly inherited. Mutations and testing: More than 90% of early-onset cases of torsion dystonia in the Ashkenazi Jewish population are caused by a GAG deletion. This deletion is estimated to have low penetrance and only produces symptoms in 30% of the people who carry it. Traits: Treatment: Treatment is aimed predominately at the relief of symptoms. Medications may be used to block the transmission of the nerve impulses that initiate the contractions. Surgery may be helpful in more serious cases. To reduce the number and severity of contractions caused by stress, hypnosis, sleep, and relaxation may help. Torsion Dystonia from Geneclinics.org
    http://www.genetests.org/profiles/dystonia
    Reviewed by Dr. Joel Charrow , Children's Memorial Hospital.
    < Back
    This page last updated on January 10, 2003. Chicago Center for Jewish Genetic Disorders Home
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    the Michael Reese Health Trust

    27. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Torsion Dyst
    torsion dystonia I is a progressive movement disorder characterized by Individuals with torsion dystonia have normal early development and normal
    http://www.jewishgeneticscenter.org/what/ashkenazi/torsion.asp
    Ashkenazi Disorders: Mendelian
    Torsion Dystonia Torsion dystonia I is a progressive movement disorder characterized by sustained, twisting muscle spasms. With time, the frequency and duration of these spasms increases, leading to joint contractures and progressive disability. Individuals with torsion dystonia have normal early development and normal intelligence. The underlying mechanism of the disorder is not well understood. There is no cure, but there has been progress in treating dystonia with a variety of medications. Disease frequency: 1/6,000 - 1/2,000 in those of Jewish ancestry.
    1 in 6,000 to 1 in 2,000 Diagnosis: Evaluation by a physician knowledgeable about the symptoms of the disorder. Increasingly by testing of one of the genes involved in this condition. Inheritance: Autosomal Dominant Prenatal diagnosis: Possible in families where a mutation has been identified in a torsion dystonia gene. Technical Information on Torsion Dystonia Additional Information:
    Care 4 Dystonia, Inc.
    440 East 78th Street Suite 4F
    New York, NY 10021 USA

    28. Dystonia
    Dystonia is a group of movement disorders that vary in their symptoms, causes,progression, and treatments. Synonyms. torsion dystonia
    http://www.bchealthguide.org/kbase/nord/nord31.htm
    var hwPrint=1;var hwDocHWID="nord31";var hwDocTitle="Dystonia";var hwRank="1";var hwSectionHWID="nord31-Header";var hwSource="en-caQ2_05";var hwDocType="Nord";
    National Organization for Rare Disorders, Inc.
    Dystonia
    Important
    It is possible that the main title of the report Dystonia 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
    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).

    29. Gene Sequenced For Disabling Childhood Movement Disorder: Early-Onset Torsion Dy
    In patients with earlyonset torsion dystonia, the DYT1 gene has a mutation that Symptoms of early-onset torsion dystonia, also called idiopathic or
    http://accessible.ninds.nih.gov/news_and_events/press_releases/pressrelease_disa
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    Gene Sequenced for Disabling Childhood Movement Disorder: Early-Onset Torsion Dystonia Protein Found For release: Wednesday, September 03, 1997 Overview Get Web page suited for printing
    Email this to a friend or colleague
    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.*

    30. Dystonia Protein Linked To Problem Common In Other Neurological Disorders: Natio
    In people with torsion dystonia, an altered gene causes a protein called torsinAto be torsion dystonia is the most severe earlyonset form of dystonia.
    http://accessible.ninds.nih.gov/news_and_events/news_articles/news_article_torsi
    News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus
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    Dystonia Protein Linked to Problem Common in Other Neurological Disorders For release: Monday, March 24, 2003 Overview Get Web page suited for printing
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    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. The finding may point to new treatments for dystonia, Parkinson's disease, and other disorders. In people with torsion dystonia, an altered gene causes a protein called torsinA to be formed in an abnormal way. Researchers have long wondered how the abnormal version of the protein leads to the disease. The new study shows that the normal protein helps to prevent abnormally folded proteins from clumping together, or aggregating, inside the body's cells. Abnormal clumps of proteins have been identified in Parkinson's, Alzheimer's, Huntington's, and a variety of other neurological diseases. The study appears in the February 1, 2003, issue of

    31. Regional Metabolism In Primary Torsion Dystonia: Effects Of Penetrance And Genot
    Regional metabolism in primary torsion dystonia. Effects of penetrance and genotype.M. Carbon, MD , S. Su, BSc , V. Dhawan, PhD , D. Raymond,
    http://www.neurology.org/cgi/content/abstract/62/8/1384
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    Dystonia

    All Genetics
    NEUROLOGY 2004;62:1384-1390
    American Academy of Neurology
    Regional metabolism in primary torsion dystonia
    Effects of penetrance and genotype
    M. Carbon, MD S. Su, BSc V. Dhawan, PhD D. Raymond, MS S. Bressman, MD and D. Eidelberg, MD Background: The authors have previously used [ F]fluorodeoxyglucose (FDG) PET to identify a reproducible pattern of regional glucose metabolism that was expressed in both manifesting and nonmanifesting carriers of the primary dystonia mutation. Objective: To identify specific regions that discriminated subjects according to clinical penetrance and genotype.

    32. Striatal Dopamine In Early-onset Primary Torsion Dystonia With The DYT1 Mutation
    Key words Earlyonset primary torsion dystonia—DYT1 mutation—TorsinA—Dopamine—Dopa-responsivedystonia. This article has been cited by other articles
    http://www.neurology.org/cgi/content/abstract/54/5/1193
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    American Academy of Neurology

    Brief Communications
    Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation
    Yoshiaki Furukawa, MD Oleh Hornykiewicz, MD Stanley Fahn, MD and Stephen J. Kish, PhD From the Movement Disorders Research Laboratory (Dr. Furukawa) and Human Neurochemical Pathology Laboratory (Dr. Kish), Centre for Addiction and Mental Health, The Clarke Division, Toronto, Ontario, Canada; Institute of Biochemical Pharmacology (Dr. Hornykiewicz), University of Vienna, Austria; and the Department of Neurology (Dr. Fahn), Columbia-Presbyterian Medical Center, New York, NY. Address correspondence and reprint requests to Dr. Yoshiaki Furukawa, Movement Disorders Research Laboratory (R 211), Centre for Addiction and Mental Health, The Clarke Division, 250 College Street, Toronto, Ontario M5T 1R8, Canada; e-mail:

    33. Arch Neurol -- Primary Torsion Dystonia, April 2005, Grundmann 62 (4): 682
    Primary torsion dystonia. Kathrin Grundmann, MD. Arch Neurol. The term primarytorsion dystonia describes a group of neurodegenerative disorders
    http://archneur.ama-assn.org/cgi/content/extract/62/4/682
    Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress
    Vol. 62 No. 4, April 2005 Featured Link E-mail Alerts History of Neurology: Seminal Citations Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Grundmann K Contact me when this article is cited Topic Collections History of Medicine Neurology, Other Topic Collection Alerts
    Primary Torsion Dystonia Kathrin Grundmann, MD
    Arch Neurol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. INTRODUCTION
    The term primary torsion dystonia describes a group of neurodegenerative disorders characterized by prolonged muscle contractions that cause sustained twisting movements and abnormal postures of affected body parts. Despite early clear descriptions of this

    34. Arch Neurol -- Abstract: Frequency Of The DYT1 Mutation In Primary Torsion Dysto
    Background Idiopathic torsion dystonia is a clinically and genetically heterogeneousmovement The DYT1 Mutation and Nonfamilial Primary torsion dystonia
    http://archneur.ama-assn.org/cgi/content/abstract/57/3/333
    Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress
    Vol. 57 No. 3, March 2000 Featured Link E-mail Alerts Original Contribution Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Brassat D Brice A Articles that cite this article ISI Web of Science (22) ... Contact me when this article is cited Topic Collections Neurology, Other Topic Collection Alerts
    Frequency of the Mutation in Primary Torsion Dystonia Without Family History David Brassat, MD Marie Vidailhet, MD Imed Feki, MD Pierre Jedynak, MD Patrick Klap, MD Yves Agid, MD, PhD Alexis Brice, MD
    Arch Neurol. Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 of the gene was the first mutation found

    35. Deep Brain Stimulation Significantly Improves Generalized Torsion Dystonia Sympt
    Generalized torsion dystonia is a progressively disabling movement disorder thatgenerally develops around age 9 and affects approximately 5 in 100000
    http://www.aan.com/press/press/index.cfm?fuseaction=release.view&release=132

    36. BioMed Central | Abstract | Torsion Dystonia In Children
    torsion dystonia in Children Vanessa K Hinson MD PhD and Christopher G Goetz MDDepartment of Neurological Sciences, 1725 West Harrison Street Suite 755,
    http://www.biomedcentral.com/1092-8480/5/291/abstract
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    Torsion Dystonia in Children
    Vanessa K Hinson MD PhD and Christopher G Goetz MD
    Department of Neurological Sciences, 1725 West Harrison Street Suite 755, Rush-Presbyterian-St Luke's Medical Center Rush University, Chicago, IL, 60612, USA
    Current Treatment Options in Neurology Published Abstract Medical treatment of childhood-onset dystonia can lead to substantial improvement of the condition, often with much more pronounced benefit than in adults. The authors give every patient a trial of levodopa to assess the possible diagnosis of dopa-responsive dystonia, followed-up with centrally acting anticholinergics such as trihexiphenydil. If needed, baclofen or clonazepam is added or substituted. In focal dystonia or segmental and generalized dystonia with prominent involvement of specific muscle groups, botulinum toxin injections are often used. Pallidal deep brain stimulation is offered to selected patients with medically refractory dystonia. Treatment of secondary dystonias, caused by such conditions as Wilson's disease, requires therapy for the underlying disorder. Physical therapy, splints, and occupational therapy can be useful in some patients. The authors do not use intrathecal baclofen unless there is evidence of accompanying spasticity.

    37. BioMed Central | Full Text | Torsion Dystonia In Children
    To obtain access to Current Treatment Options in Neurology through your institutionuse the options below. If you would like information about a personal
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    38. Primary Torsion Dystonia: The Search For Genes Is Not Over -- Jarman Et Al. 67 (
    Primary torsion dystonia the search for genes is not over. PR Jarmana, N delGrossob, EM Valentea, B Leubec, E Cassettad, AR Bentivogliod, HM Waddye,
    http://www.jnnp.com/cgi/content/abstract/67/3/395

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    J Neurol Neurosurg Psychiatry 395-397 ( September )
    Short report
    Primary torsion dystonia: the search for genes is not over P R Jarman a N del Grosso b E M Valente a B Leube c E Cassetta d A R Bentivoglio d H M Waddy e R J Uitti f D M Maraganore g A Albanese d M Frontali b G Auburger c S B Bressman h N W Wood a T G Nygaard h a Department of Clinical Neurology, Institute of Neurology, London, UK, b Instituto di Medicina Sperimentale, CNR, Roma, Italy, c d Institute of Neurology, Universita Cattolica del S Cuore, Roma, Italy

    39. A Drosophila Model Of Early Onset Torsion Dystonia Suggests Impairment In TGF-{b
    A Drosophila model of early onset torsion dystonia suggests impairment in TGFßsignaling. Young-Ho Koh , Kimberly Rehfeld and Barry Ganetzky*
    http://hmg.oxfordjournals.org/cgi/content/abstract/13/18/2019
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    Human Molecular Genetics Advance Access originally published online on July 21, 2004
    Human Molecular Genetics 2004 13(18):2019-2030; doi:10.1093/hmg/ddh208
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    A Drosophila
    Young-Ho Koh Kimberly Rehfeld and Barry Ganetzky Laboratory of Genetics, 445 Henry Mall, University of Wisconsin Madison, Madison, WI 53706, USA Received May 3, 2004; Revised June 23, 2004;

    40. Mutant TorsinA, Responsible For Early-onset Torsion Dystonia, Forms Membrane Inc
    Earlyonset torsion dystonia is a hereditary movement disorder thought to be A Drosophila model of early onset torsion dystonia suggests impairment in
    http://hmg.oxfordjournals.org/cgi/content/abstract/9/9/1403
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    Request Permissions PubMed PubMed Citation Articles by Hewett, J. Articles by Breakefield, X. O. Human Molecular Genetics, 2000, Vol. 9, No. 9
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    Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
    Jeffrey Hewett Charo Gonzalez-Agosti Damien Slater Philipp Ziefer Sang Li Daniele Bergeron David J. Jacoby Laurie J. Ozelius Vijaya Ramesh and Xandra O. Breakefield Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent

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