Dystonia Medical Research Foundation Home Page Canadian Foundation supporting research, awareness and support related to dystonia. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Abstracts: GENETICS OF DYSTONIA Idiopathic torsion dystonia, by Laurie Ozelius, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Ma. 2nd Workshop Neurogenetics in Germany, Munich, October 1921, 1995. http://www.hum-molgen.de/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).
Idiopathic Torsion Dystonia Disease Idiopathic torsion dystonia. OMIM number 128100. Body System Neurological neuromuscular. Type 1. Inheritance pattern AD http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Diseases: Torsion Dystonia he 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.
Department Of Neurosurgery - Mount Sinai School Of Medicine of torsion dystonia in the majority of patients thus far treated. in theuse of deep brain stimulation (DBS) for the treatment of torsion dystonia. http://www.mssm.edu/neurosurgery/patient_care/dystonia.shtml
Extractions: Dystonia is a movement disorder characterized by twisting, repetitive movements which result in abnormal, often painful postures. The disorder may be categorized by age at presentation ( The application of deep brain stimulation for dystonia results from the success of this intervention for the treatment of Parkinsons disease and essential tremor, and the observation that ablative basal ganglia interventions can improve dystonia in select cases. Deep brain stimulation is superior to neuroablation for a number of reasons: 1- the effects of stimulation are reversible; 2- stimulation parameters can be customized for each patient, maximizing therapeutic results; 3- bilateral procedures are safer; and 4- because the brain tissue is not destroyed, the application of future therapies is not precluded. The major disadvantages of DBS are its cost and the need for long-term device maintenance. Deep brain stimulating devices are implanted in two stages. During the first stage, quadripolar stimulating leads are inserted into the therapeutic targets with the assistance of a stereotactic guidance system. Initial coordinates for the targets, selected via MRI, are refined in the operating room by performing electrical recordings of the patients brain. Patients must be awake or minimally sedated in order to obtain reliable recordings and to test the effects of stimulation during the surgery. During the second stage, which is performed under general anesthesia, the stimulating leads are connected, via extension cables, to programmable stimulators that are implanted subcutaneously at the chest wall. Programming of the devices begins one week after implantation is complete.
Torsion Dystonia The disorders include earlyonset torsion dystonia, focal dystonias, Early-onset torsion dystonia is a movement disorder characterised by twisting http://leedsdna.info/tests/Torsion_Dystonia.htm
Extractions: Last update: Disease Names/Indications Locus/Gene(s) OMIM(s) Contact DYT1 or torsin A KJ Flintoff Brief Description The dystonias are a heterogeneous group of movement disorders which are known to have a strong inherited basis. The disorders include early-onset torsion dystonia, focal dystonias, dopa-responsive dystonias and diseases where dystonia is seen with other symptoms. Early-onset torsion dystonia is a movement disorder characterised by twisting muscle contractions affecting one or more sites of the body causing twisting and repetitive movements or abnormal postures. There are no other neurological abnormalities. Earl-onset torsion dystonia is autosomal dominant with a penetrance of 30-40%. The typical phenotype is associated with early-onset dystonia in a limb, particularly the leg, with frequent spread to other limbs. Marked variability in clinical severity is seen. Linkage analysis assigned the locus to 9q32-q34. A gene DYT1/torsin A was identified and a 3 bp deletion in exon 5 of the gene (nucleotide 946-948) was found in all affected patients with typical early-onset torsion dystonia whether inherited or sporadic. The mutation produces an in-frame deletion of a GAG nucleotide with the loss of a single glutamic acid residue in the protein. A single patient has also been described who has a maternally inherited 18 bp deletion in exon 5 of torsin A The torsin A gene has 5 exons and the GAG deletion is in exon 5 at nucleotide 946. Wild type torsin A is expressed in neural cells and is located throughout the cell body and colocalises with endoplasmic reticulum markers and vesicle markers. Mutant torsin A forms large inclusions around the cell nucleus with whorls that appear to derive from the ER. It has been suggested that mutant torsin A protein interferes with integrity of the ER, membrane trafficking and downstream vesicular release from neurones. The deleted GAG codon must play a crucial role in the function of the protein.
Dystonia - Health And Medical Information Produced By Doctors - A form of dystonia known as earlyonset torsion dystonia (also called idiopathic or generalized torsion dystonia) begins in childhood around http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Dystonia is a state of abnormal (either excessive or inadequate) muscle tone. There are many forms of dystonia. Dystonia disorders cause involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor , and abnormal posture. These movements may involve the entire body, or only an isolated area. There are several situations that are associated with dystonia, including medication-induced and dystonia resulting from a specific form of lung cancer . Symptoms may even be "task specific," such as writer's cramp. A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) 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. What are patterns of dystonia?
TorsinA And Torsion Dystonia Unraveling The Architecture Of The ref. 22). TorsinA may regulate these luminal interactions between INM and ONM proteins. TorsinA and EarlyOnset torsion dystonia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Last Updated: August 9, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, primary torsion dystonia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Rowena Emilia Tabamo, MD , Associate Director for Clinical Research, Institute for Neurodegenerative Disorders Coauthor(s): Michele Tagliati, MD , Division Chief of Movement Disorders, Associate Professor, Department of Neurology, Mount Sinai School of Medicine; Susan B Bressman, MD , Chairperson, Department of Neurology,, Beth Israel Deaconess Medical Center; Chairperson, Department of Neurology, St. Luke's-Roosevelt Hospitals; Professor, Department of Neurology, Albert Einstein College of Medicine Rowena Emilia Tabamo, MD, is a member of the following medical societies:
Age At Onset As A Factor In Determining The Phenotype Of Primary Age at onset as a factor in determining the phenotype of primary torsion dystonia S. O'Riordan, MRCPI , D. Raymond, MS , T. Lynch, FRCPI http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
EMedicine - Dystonias : Article By Aathi R Thiyaga-Rajah, MD Dystonias Dystonia (from Greek, meaning altered muscle tone) refers to a unilateral dystonia, dystonia musculorum deformans, torsion dystonia, TD, http://www.emedicine.com/pmr/topic235.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Physical Medicine and Rehabilitation Movement Disorders Last Updated: June 30, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: involuntary muscle contractions, infantile dystonias, childhood dystonias, juvenile dystonias, adult dystonias, idiopathic dystonias, secondary dystonias, sporadic idiopathic dystonia, inherited idiopathic dystonias, heritable childhood-onset dystonias, drug-induced dystonias, hemidystonias, focal dystonias, segmental dystonias, multifocal dystonias, generalized dystonias, cervical dystonias, torticollis, craniocervical dystonia blepharospasm, oromandibular dystonia, laryngeal dystonia, unilateral dystonia, dystonia musculorum deformans, torsion dystonia, TD, writer's cramp, occupational cramp, graphospasm, spasmodic muscle contractions, involuntary muscle contraction AUTHOR INFORMATION Section 1 of 8 Author Information Introduction Classification Common Types Of Dystonias ... Bibliography
Mutations In DYT1 Extension Of The Phenotypic And Mutational Background Most cases of earlyonset primary torsion dystonia (PTD) are caused by the same three-base pair (bp) (GAG) deletion in the http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Healthfinder® - Torsion Dystonia Carefully selected government and nonprofit health information on torsion dystonia. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=863
A Drosophila Model Of Early Onset Torsion Dystonia Suggests A Drosophila model of early onset torsion dystonia suggests impairment in TGF signaling Young-Ho Koh , Kimberly Rehfeld and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
