Genetics Education And Counseling Program DUCATION COUNSELING PROGRAM. torsion dystonia Genetics Education and Counseling Program John A What is torsion dystonia?torsion dystonia is a condition characterized by involuntary http://www.pitt.edu/~edugene/Torsion.pdf
Extractions: Advanced Search Previous Next Courtesy of Guy Caldwell CLEARING THE DRAIN: (Left) The worm expresses polyglutamine GFP in both the presence and absence of torsin. (Right) A Caenorhabditis elegans torsin protein, TOR-2 (red), localizes to sites of polyglutamine green fluorescent protein (GFP) aggregation (green) in a worm cell. A movement disorder can start as a twinge. A child's leg turns in while walking. Writing becomes difficult, painful. For many, these types of diseasesbroadly termed dystoniasprogress no further than persistent muscle cramps. Yet in many children affected by rare, heritable, early-onset dystonia, a generalized movement disorder called torsion dystonia develops as well. The disorder can affect the entire body: Opposing muscles work against each other, twisting the posture, causing repetitive movements, or contorting arms and legs into unnatural positions. Oftentimes, the earlier in life symptoms appear, the worse they get. To uncover the roots of this dominant trait, which has only 30% to 40% penetrance, researchers spent more than 15 years studying afflicted, diverse families and a population of Ashkenazi Jews to zero in on a responsible mutation: a three-basepair deletion in
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.
Torsion Dystonia torsion dystonia. This article submitted by Jack on 10/18/97. Re torsion dystonia (1/6/99) 555 PM http://neuro-www.mgh.harvard.edu/forum/DystoniaF/10.18.979.11AMTorsionDystonia.
Torsion Dystonia torsion dystonia. This article submitted by Lars Andersson on 12/27/98. Email Address l.ekbacken@swipnet.se. torsion dystonia (Dystonia Deformans) Is there anyboby out there who has been diagnosted http://neuro-www.mgh.harvard.edu/forum/DystoniaF/12.27.981.07PMTorsionDystonia.
Pediatric Database A definition of torsion dystonia, the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/IDIOPAT2.HTM
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).
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Last Updated: November 12, 2003 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 Medical Research, Institute for Neurodegenerative Disorders Coauthor(s): Michele Tagliati, MD , Program Director, Assistant Professor, Department of Neurology, Beth Israel Medical Center 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:
Torsion Dystonia - Information / Diagnosis / Treatment / Prevention home neurological disorders movement disorders torsion dystonia torsion dystonia. Information Diagnosis Treatment Prevention. http://www.healthcyclopedia.com/neurological-disorders/movement-disorders/torsio
Extractions: Web Directory: Medicine Net: Torsion Dystonia A brief description of this disorder, its onset and symptoms. Pediatric Database A definition of torsion dystonia, the epidemiology, pathogenesis, clinical features, investigations and management. University of Pittsburgh From the Genetics Education and Counseling Program a brochure about Torsion Dystonia.
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.
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?
Extractions: Previous page Dystonia Index Next page "TorsinA is a protein we've never seen before," says Dr. Breakefield, "but we already have clues about its function because it resembles a class of proteins that protects cells from stress and trauma." Once they sequenced the DYT1 gene, the investigators compared it to other genes from a large database of genetic information. The DYT1 gene resembled genes that code for proteins responsible for binding adenosine triphosphate (ATP), the energy-containing molecules of cells. TorsinA and related ATP-binding proteins resemble a class of proteins called heat-shock proteins. Heat-shock proteins act as thermoregulators to other proteins involved in cellular function and metabolism. They protect proteins from temperature fluctuations and help proteins maintain their shape. By maintaining the strength and resiliency of cellular proteins, heat-shock proteins protect cells from deadly environmental, biological, and chemical stress. How is dystonia genetically transmitted?
EMedicine - Idiopathic Torsion Dystonia : Article Excerpt By: Rowena Emilia Taba Idiopathic torsion dystonia Dystonia is a syndrome of sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures (Fahn, 1987).In 1908, Schwalbe first http://www.emedicine.com/neuro/byname/idiopathic-torsion-dystonia.htm
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, primary torsion dystonia Background: Dystonia is a syndrome of sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures (Fahn, 1987). In 1908, Schwalbe first described primary/idiopathic torsion dystonia in a Jewish family, and in 1911, Oppenheim termed this dystonia musculorum deformans (DMD). Initially believed to be a manifestation of hysteria, idiopathic torsion dystonia gradually became established as a neurological entity with a genetic basis. DMD or Oppenheim disease are terms now used for childhood- and adolescent-onset dystonia due to the gene. With the recent mapping of genes for idiopathic torsion dystonia and identification of a gene for early onset dystonia, the description idiopathic/primary dystonia has become outdated; it now may be viewed as secondary to or symptomatic of an identified cause. However, continuing to use "primary" torsion dystonia to classify a group of dystonias as a clinically and genetically heterogenous group of movement disorders is justifiable on the basis that dystonia is the primary and sole abnormality attributable to the condition, and degeneration on pathologic examination is not known. Primary torsion dystonia may be focal, segmental, multifocal, or generalized, depending on which anatomical sites are involved (see Table 1).
Genetic Diseases: Torsion Dystonia torsion dystonia. Reprinted with permission from the Mount Sinai Center for Jewish Genetic Diseases. The tragedy of dystonia, a disease affecting movement control, may be best described through the http://www.jewishpalmbeach.org/content_display.html?ArticleID=83086
Extractions: Dystonia ... Movement Disorders : Torsion Dystonia - Opinion Torsion Dystonia in Children Vanessa K Hinson MD PhD and Christopher G Goetz MD Department of Neurological Sciences, 1725 West Harrison Street Suite 755 Conditions and Diseases - Torsion Dystonia Top Links - Torsion Dystonia Web Site Links. Medicine Net: Torsion Dystonia - A brief description of this disorder, its onset and symptoms. Pediatric Conditions and Diseases: Neurological Disorders: Movement ... Geometry.Net - Health_Conditions: Torsion Dystonia - Pediatric Database A definition of torsion dystonia, the epidemiology, pathogenesis, clinical features, investigations and management. torsion dystonia. Geometry.Net - Health_Conditions: Torsion Dystonia - Diseases Idiopathic Torsion Dystonia. Last htm. Last update: Disease Names/Indications Locus/Gene(s) OMIM(s) Contact Torsion Dystonia. DYT1 healthfinder® - Torsion Dystonia Idiopathic Torsion Dystonia : on Medical Dictionary Online - Idiopathic Torsion Dystonia defined on the Free Online Medical Dictionary. Link to the Medical Dictionary Online. Idiopathic Torsion Dystonia. Idiopathic torsion dystonia linked to chromosome 8 in two ...
Torsion Dystonia Gene torsion dystonia Gene. By Sean Henahan, Access Excellence a long sought gene for a movement disorder called torsion dystonia. The discovery will allow early diagnosis of this http://www.accessexcellence.org/WN/SUA11/dys997.html
Extractions: Boston, MA (9/5/97)- A fifteen year search has yielded a long sought gene for a movement disorder called torsion dystonia. The discovery will allow early diagnosis of this crippling disease and could also contribute to understanding of a wide variety of movement disorders. "The cloning of this gene is a long sought-after goal," says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke. "Its discovery is a signal achievement which will help us understand the pathological basis of dystonia and other movement disorders." Dystonias are disorders characterized by sustained, involuntary muscle contractions that can twist and contort parts of the body. Early-onset dystonia, usually appearing before the age of 11, is the most common and severe hereditary form of the disorder, affecting about 50,000 people in North America. Patients with advanced dystonia may be confined to a wheel-chair or bedridden. The disease is more common lifelong condition is more common than the better known crippling diseases, Huntington's disease and amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease). The incdience is especially high among Ashkenazi Jews, those of Eastern European ancestry. "We look on dystonia as a 'stealth crippler'," says Xandra O. Breakefield, PhD, of the Massachusetts General Hospital Molecular Neurogenetics Unit, leader of the research team. "In contrast to other movement disorders, like Parkinson's disease, there is no visible evidence of damage to the brain and no truly effective drug treatment. Only after identifying the responsible gene and then determining the function of its protein can we understand exactly how this disease produces its symptoms."
Disease Directory : Torsion Dystonia torsion dystonia Directory Guide to torsion dystonia sites on the internet. torsion dystonia. Directory Listing. Title torsion dystonia http://www.diseasedirectory.net/detailed/20172.aspx
Torsion Dystonia | Www.somethingjewish.co.uk torsion dystonia. The tragedy of dystonia, a disease affecting movement control, may be best described through the brief case history of a young girl. http://www.somethingjewish.co.uk/articles/371_torsion_dystonia.htm
Extractions: Home Page About Us Buy Jewish and Israeli gifts Suzie Gold ... You Are Wanted Last Updated: >>More from SJ Health E-mail this to a friend Torsion Dystonia The 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.
