RBM Online - Preimplantation Genetic Diagnosis For Early-onset Earlyonset primary torsion dystonia (DYT1) is the commonest hereditary movementdisorder with sustained twisting contractures beginning in childhood. http://www.rbmonline.com/4DCGI/Article/Lay_Summary?38 1 = 1133
NeuroCAST - Sessions Earlyonset dystonia (Generalized Dystonia or Primary torsion dystonia) usually Early-onset, primary torsion dystonia (PTD) is the most common and most http://www.neurocast.com/site/content/sessions_Dystonia.asp
Extractions: 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.
NeuroCAST - Sessions Earlyonset primary torsion dystonia is an autosomal dominant disorder most Early-onset dystonia (Generalized Dystonia or Primary torsion dystonia) http://www.neurocast.com/site/content/sessions_Dystonia.shtml
Extractions: 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.
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
Torsion Dystonia - Talk Medical Humanfriendly medical definition of torsion dystonia. http://www.talkmedical.com/medical-dictionary/14463/Torsion-Dystonia
Extractions: Tell a friend Torsion dystonia: A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) that begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating. Most children with the disorder are unable to perform the simplest of motor tasks and are confined to a wheelchair by the time they reach adulthood. Print this page About Talk Medical Help Contact Us ... Terms and Conditions
Dystonia Disorders Blepharospasm; Oromandibular dystonia; torsion dystonia; Torticollis; Writer s cramp FederallyFunded Research on Dystonia Disorders http://www.icongrouponline.com/health/Dystonia_Disorders.html
Extractions: E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Dystonia disorders. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Blepharospasm; Oromandibular dystonia; Torsion Dystonia; Torticollis; Writer's cramp Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Dystonia Disorders: Guidelines Overview What Are the Dystonias? What Are the Symptoms? How Are the Dystonias Classified?
DYT13 Primary Torsion Dystonia[?] Translate this page The first impact factor for PLoS Biology 13.9DYT13 Primary torsion dystoniablog blogdriver blogger . http://wwyuan.blogchina.com/2319481.html
WE MOVE - Dystonia: References A study of idiopathic torsion dystonia in a nonJewish family evidence for genetic The relationship between trauma and idiopathic torsion dystonia. http://www.wemove.org/dys/dys_ref.html
Extractions: E-mail: wemove@wemove.org Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG (1997) Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann.Neurol. Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte OW, Voit T (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics Bentivoglio AR, Del Grosso N, Albanese A, Cassetta E, Tonali P, Frontali M. Non-DYT1 dystonia in a large Italian family. J Neurol Neurosurg Psychiatry. Brashear A, Butler IJ, Ozelius LJ, et al. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. In: Fahn S, Marsden CD, DeLong M, eds. Dystonia 3: Advances in Neurology
Extractions: Gene Sequenced For Disabling Childhood Movement Disorder Early-Onset Torsion Dystonia Protein Found 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. "The cloning of this gene is a long sought-after goal," says Zach W. Hall, Ph.D., Director of the NINDS. "Its discovery is a signal achievement which will help us understand the pathological basis of dystonia and other movement disorders." NINDS grantees, Xandra O. Breakefield, Ph.D., and Laurie J. Ozelius, Ph.D., neurogeneticists at Massachusetts General Hospital (MGH) in Boston and lead authors of the study, have been searching for the dystonia gene for more than 15 years. Their team included investigators at Columbia Presbyterian Medical Center and Mt. Sinai Hospital in New York City, Stanford University in Stanford, California, and Oregon Health Sciences University in Portland, Oregon. In 1989 the team localized or mapped the gene to chromosome 9 and named it DYT1. Now, they have sequenced the DYT1 gene and found that it codes for a previously unknown protein which the team named "torsinA."
Dystonia Synonyms. torsion dystonia Generalized Dystonia; Primary Dystonia; EarlyonsetDystonia Dystonia may be focal (affecting an isolated body part), http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord31
Dystonia: Definition And Much More From Answers.com A form of dystonia known as earlyonset torsion dystonia (alsocalled idiopathic or Some patterns of dystonia are defined asspecific syndromes Torsion http://www.answers.com/topic/dystonia
Extractions: Dystonia is a state of abnormal(either excessive or inadequate) muscle tone. There are manyforms of dystonia. Dystonia disorders cause involuntary movementsand prolonged muscle contraction, resulting in twisting bodymotions, tremor , and abnormal posture. These movements mayinvolve the entire body, or only an isolated area. There are several situations that are associated with dystonia,including medication-induced and dystonia resulting from aspecific form of lung cancer . Symptoms may even be "taskspecific," such as writer's cramp. A form of dystonia known as early-onset torsion dystonia (alsocalled idiopathic or generalized torsion dystonia) begins inchildhood around the age of 12. Symptoms typically start in onepart of the body, usually in an arm or leg, and eventually spreadto the rest of the body within about 5 years. Early-onset torsiondystonia is not fatal, but it can be severely debilitating. Mostchildren with the disorder are unable to perform the simplest ofmotor tasks and are confined to a wheelchair by the time theyreach adulthood.
Extractions: var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Brain, Spinal Cord, and Nerve Disorders Chapter Movement Disorders Topics Introduction Chorea and Athetosis Coordination Disorders Dystonia Huntington's Disease Myoclonus Parkinson's Disease Progressive Supranuclear Palsy ... Tremor Dystonia Buy The Book Print This Topic Email This Topic Pronunciations amitriptyline athetosis basal ganglia benzodiazepines ... ultrasonography Dystonia is involuntary, slow, repetitive, sustained muscle contractions that may cause freezing in the middle of an action, as well as twisting or turning of the trunk, the entire body, or part of the body. Causes 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. Early symptoms can be mild or severe. Muscles contract slowly and abnormally, causing twisting and turning. The dystonia commonly starts in one foot or leg. It may remain limited to the trunk or a leg, but sometimes it affects the whole body, ultimately confining the child to a wheelchair. Another example of mild dystonia is persistent writer's cramp (however, not all writer's cramp is due to dystonia). When idiopathic torsion dystonia develops in adults, it usually begins in the face or arms and usually does not progress to other parts of the body.
Torsion Dystonia, Eastern Carolina torsion dystonia University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/142305.cfm
Extractions: An extensive resource for information on illnesses, conditions, drugs, medical tests, and more. 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. Author Katy Magee, MA Primary Medical Reviewer Patrice Burgess, MD
Postgraduate Medicine: Strategies For Controlling Dystonia Shale H, Fahn S. Analysis of openlabel trials in torsion dystonia using of anticholinergic and other drugs in the treatment of torsion dystonia. http://www.postgradmed.com/issues/2000/10_00/adler.htm
Extractions: Charles H. Adler, MD, PhD VOL 108 / NO 5 / OCTOBER 2000 / POSTGRADUATE MEDICINE CME learning objectives Dr Adler has received research grants from Allergan, Inc, and Athena Neurosciences and is on the Neurology Advisory Board of Athena Neurosciences. This is the second of four articles on hyperkinetic movement disorders This page is best viewed with a browser that supports tables. Preview : Dystonia is a neurologic disorder characterized by involuntary movements that result in twisting, abnormal postures, and repetitive movements of a body part. The key factor that differentiates dystonia from other movement disorders is that there is a sustained abnormal posture that occurs at some time during the movement. This article reviews the current understanding of dystonia and discusses workup and treatment guidelines.
Re: Another Question Regarding Anesthesia & Dystonia by anesthesia in people who have idiopathic torsion dystonia. Dopa responsivedystonia is a syndrome different than the idiopathic torsion dystonia. http://www.medhelp.org/forums/neuro/archive/13878.html
Extractions: For Researchers For Librarians Authors: S. Rechitsky ; O. Verlinsky ; A. Kuliev ; S. Ozen ; K. Laziuk ; R. Beck ; N. Gleicher ; Y. Verlinsky Source: Reproductive BioMedicine Online , Volume 8, Number 2, 1 February 2004, pp. 224-228(5) Publisher: Reproductive Healthcare Ltd View Table of Contents full text options Abstract: Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized by sustained twisting contractures that begin in childhood, which is caused in majority of cases by a 3-bp deletion of the gene on chromosome 9q34 at the heterozygote state. As there is no effective treatment of this disease, preimplantation genetic diagnosis (PGD) may be a useful option for at-risk couples to establish an
Generalized Torsion Dystonia: By Vivian Generalized torsion dystonia by Vivian. Generalized torsion dystoniais a chronic,incurable and very disabling condition, in which the muscles go into http://www.rxmarihuana.com/shared_comments/Torsion.htm
Extractions: Generalized Torsion Dystonia: by Vivian Generalized torsion dystoniais a chronic, incurable and very disabling condition, in which the muscles go into spasm. The agonist and antagonist muscles pull at the same time (normally, one tightens and the other relaxes). 'Treatment' is brain surgery with dubious results, botox for milder cases, or Diazepam and the benzos for muscle relaxation. Unfortunately, the benzos create addiction far worse than heroin. Marijuana is a muscle relaxant, and certainly worked for me, but the problem I have is finding good quality marijuana, rather than 'factory sweepings'. The London specialists have known since at least 1981 that marijuana helps, but it's now 2003, and they're still sitting on the fence! Attempts to make a synthetic version which works have failed. At my wits' end.
Geneticalliance.org torsion dystonia Support Groups. 1 organization(s) found. previous Page 1 of1 next . Chicago Center for Jewish Genetic Disorders http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t
Abstracts: GENETICS OF DYSTONIA Idiopathic torsion dystonia (ITD) is a movement disorder characterized by Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their http://hum-molgen.org/documents/abstracts/0070.html
Extractions: 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. Wilsons disease, Parkinsons 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).
