Extractions: Clinical Resources by Topic: Neurology Dystonia Clinical Resources Emergency Pediatrics Geriatrics Genetics ... Miscellaneous Resources See also: Chapter 363: Parkinson's Disease and Other Extrapyramidal Disorders Table of contents Focal Torsion Dystonia: Access document Task-Specific Focal Dystonia: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 34 - Movement Disorders: Access document History: Access document Hyperkinetic Movement Disorders: Access document Reviews and Selected Updates:
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
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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
Extractions: 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.
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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
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.
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
Extractions: 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.
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
Extractions: 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
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
Extractions: 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.
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
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
Extractions: 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.
Extractions: 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.
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
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
Extractions: 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
