1. Pediatric Database A definition of torsion dystonia, the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/IDIOPAT2.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/23/94 IDIOPATHIC TORSION DYSTONIA DEFINITION: A slowly-progressing movement disorder characterized by dystonia and tremor. EPIDEMIOLOGY: incidence: ? age of onset: usually from 6-14 years risk factors: familial - autosomal recessive and autosomal dominant forms with a 15% new mutation rate chrom.#: 9q32-34 gene: ? 5-10x more common among Ashkenazi Jews PATHOGENESIS: 1. Background also called Dystonia Muscularum Deformans the Idiopathic Torsion Dystonia (ITD) gene has been mapped to chromosome 9q32-34 (Ozelius et al., Neuron 2: 1427-1434, 1989; Kramer et al., Ann. Neurol. 27: 114-120, 1990) all three forms of inherited dystonia have had their disease locus genetically mapped Idiopathic Torsion Dystonia - 9q32-34 Dopa-Responsive Dystonia - 14q X-linked Dystonia-Parkinsonism - Xq21 CLINICAL FEATURES: 1. Dystonic Manifestations 1. Initial - Focal Dystonia focal and intermittent involvement of a lower limb usually presents when stressed or during an activity such as running foot may also be extended and rotated causing intermittent unilateral tip-toe walking 2. Late - Generalized Dystonia

2. Torsion Dystonia - Medical Dictionary Of Popular Medical Terms To Help You Bette A brief description of this disorder, its onset and symptoms.Category Health Conditions and Diseases torsion dystonia...... form of dystonia known as earlyonset torsion dystonia (also called idiopathic orgeneralized torsion dystonia) that begins in childhood around the age of 12. http://www.medterms.com/script/main/art.asp?articlekey=5822

3. Center For Jewish Genetic Disorders | Torsion Dystonia Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://www.jewishgenetics.org/dyst.htm

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 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. Additional Information: Dystonia Medical Research Foundation 1 E. Wacker Drive, #2430 Chicago, IL 60601-1905 fax: (312) 803-0138 www.dystonia-foundation.org

4. EMedicine - Idiopathic Torsion Dystonia : Article By Rowena Emilia Tabamo, MD Idiopathic torsion dystonia Dystonia is a syndrome of sustained muscle contractions,usually producing twisting and repetitive movements or abnormal postures http://www.emedicine.com/neuro/topic165.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Idiopathic Torsion Dystonia Last Updated: May 11, 2002 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: American Academy of Neurology, and

5. 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

home genetic news bioinformatics biotechnology ... next Abstracts: GENETICS OF DYSTONIA January 10, 1996 Neurogenetics Laurie Ozelius Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Ma. 2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995 Headings Idiopathic torsion dystonia (ITD) 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. Wilson’s disease, Parkinson’s 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).

6. Arch Neurol -- Page Not Found Arch Neurol. 58;681682, April 2001, The DYT1 Mutation and Nonfamilial Primary torsion dystonia, Susan B. Bressman, MD; Stanley Fahn; Laurie J. Ozelius, PhD; Patricia L. Kramer, PhD; Neil J. Risch Ale http://archneur.ama-assn.org/issues/v58n4/ffull/nlt0401-5.html

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7. Dystonia Medical Research Foundation: Home Page 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. http://www.dystonia-foundation.org/

To better sevice our membership, we would like to find out who you are. Please tell us if you are a... Affected Person Family/Friend Parent Heathcare Prof Other Other Comments? Pedro Gonzalez-Alegre, M.D., the Dystonia Foundation's 2002-2003 Menkes/Markham fellow has been awarded the 2003 S. Weir Mitchell Award from the American Academy of Neurology for his research in DYT1 dystonia. more Dystonia Family Featured on Good Morning America Highlights of the 4th International Dystonia Symposium Accelerating the Research, Accelerating the Cure ... Genetic Researchers Need Your Help The design and implementation of the Dystonia Foundation's website was made possible by a generous educational grant from the Allergan

8. Torsion Dystonia Gene torsion dystonia Gene. By Sean Henahan, Access Excellence http://www.accessexcellence.org/WN/SUA11/dys997.html

Torsion Dystonia Gene By Sean Henahan, Access Excellence 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."

9. Idiopathic Torsion Dystonia Disease Idiopathic torsion dystonia. OMIM number 128100 http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/165.html

Disease : Idiopathic torsion dystonia OMIM number : Body System : Type : Inheritance pattern : AD Incidence/prevalence : P Population surveyed : Jews (Ashkenazi) Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : From 333 to 1,000 Frequency figure for females : Method (direct/indirect) : Reference : Risch N, De Leon D, Ozelius L et al. Genetic analysis of torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-159. Comments :

10. Center For Jewish Genetic Diseases - Mount Sinai School Of Medicine Diseases torsion dystonia. he tragedy of dystonia, a disease affecting movementcontrol, may be best described through the brief case history of a young girl. http://www.nfjgd.org/diseases/torsion_dystonia.shtml

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.

11. University Of Pittsburgh From the Genetics Education and Counseling Program a brochure about torsion dystonia. http://www.pitt.edu/~edugene/Torsion.pdf

12. Torsion Dystonia . Earl-onsettorsion dystonia is autosomal dominant with a penetrance of 30-40%....... torsion dystonia. 9q32q34 DYT1 or torsin A, 12810. KJ Flintoff. Brief http://leedsdna.info/tests/Torsion_Dystonia.htm

Last update: Disease Names/Indications Locus/Gene(s) OMIM(s) Contact Torsion Dystonia 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.

13. EMedicine - Idiopathic Torsion Dystonia : Article Excerpt By: Rowena Emilia Taba Excerpt from Idiopathic torsion dystonia. Synonyms, Key Words, and Related Terms DMD, dystonia musculorum deformans, http://www.emedicine.com/neuro/byname/idiopathic-torsion-dystonia.htm

(advertisement) Excerpt from Idiopathic Torsion Dystonia Synonyms, Key Words, and Related Terms: DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, primary torsion dystonia Please click here to view the full topic text: Idiopathic Torsion Dystonia Background: Dystonia is a syndrome of sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures (Fahn et al, 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).

14. DYSTONIC DISORDERS DIFFERENTIAL DIAGNOSIS 1. Primary. 1. DopaResponsive Dystonia; 2. Idiopathictorsion dystonia; 3. X-Linked Dystonia-Parkinsonism 2. Secondary. http://www.icondata.com/health/pedbase/files/DYSTONIC.HTM

Pediatric Database (PEDBASE) Discipline: APP Last Updated: 5/23/94 DYSTONIC DISORDERS DEFINITION: A group of disorders characterized by slow, involuntary, repetitive movements causing exaggerated twisting and posturing of the extremities and/or trunk. EPIDEMIOLOGY: prevalence: 4/10,000 age of onset: risk factors: see differential diagnosis DIFFERENTIAL DIAGNOSIS: 1. Primary 1. Dopa-Responsive Dystonia 2. Idiopathic Torsion Dystonia 3. X-Linked Dystonia-Parkinsonism 2. Secondary 1. Trauma birth asphyxia head trauma peripheral or segmental nerve injury 2. Toxic anticonvulsants (phenytoin, carbamazepine) neuroleptics (phenothiazines) 3. Infectious encephalitis (Subacute Sclerosing Panencephalitis) 4. Genetic/Metabolic GM1 Gangliosidoses Hallervorden-Spatz Disease Niemann-Pick Disease (Late Onset) Rett Syndrome Wilson Disease 5. Miscellaneous Familial Paroxysmal Choreoathetosis CLINICAL FEATURES: 1. Dystonic Characteristics slow, involuntary, repetitive movements causing exaggerated twisting and posturing of various muscle groups extremities axial musculature cranial and cervical muscles may also involve segmental dystonia writer's cramp blepharospasm buccomandibular dystonia focal, hemidystonic, or generalized

15. Health Library: All Topics: T: Torsion Dystonia - Healthfinder® healthfinder® home page, healthfinder® — your guide to reliable healthinformation. health library. just for you. health care. organizations. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=863

16. Health Library: All Topics: T: Torsion Dystonia - Healthfinder® home health library all topics T torsion dystonia. refine your search.find a specific kind of information on torsion dystonia http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=863&refine=1

17. TORSION DYSTONIA DISORDER torsion dystonia DISORDER. Dystonia Earlyonset torsion dystonia -Disease symptoms-Inheritance Inheritance is simple for early-onset torsion dystonia. http://www.biochem.arizona.edu/classes/bioc461/Biochem499/AngelaPulsifer/dystoni

TORSION DYSTONIA DISORDER Dystonia Early-onset Torsion Dystonia -Disease symptoms -Inheritance Dystonia is a disorder characterized by involuntary spasms and muscle contractions that induce abnormal movements and postures. Dystonia may affect only one part of the body, such as the neck or arm, or can affect the whole body. There are many different types of dystonia. Primary or idiopathic dystonia have no known organic lesions and secondary dystonia arises from an insult to the basal ganglia of the central nervous system. Generalized dystonia (affects a wide range of body areas) usually occurs in childhood and most often affects the limbs and feet. The most common type is Torsion dystonia , which is inherited and can leave individuals seriously disabled and confined to a wheelchair. This type of dystonia will be the main focus for the rest of this discussion. Focal dystonias (affects specific body parts) usually occur later in life (40s to 50s) and an individual may suffer from more than one type (Howell, 1997)

18. Works Cited F., and Breakefield, Xandra O. The earlyonset torsion dystonia gene (DYT1) encodesan ATP-binding protein Nature Genetics, volume 17, pages 40-47 (1997). http://www.biochem.arizona.edu/classes/bioc461/Biochem499/AngelaPulsifer/worksci

REFERENCES 1.) Ozelius, Laurie J., Hewett, Jeffrey W., Page, Curtis E., Bressman, Susan B., Kramer, Patricia L., Shalish, Christo, de Leon, Deborah, Brin, Mitchell F., Raymond, Deborah, Corey, David P., Fahn, Stanley, Risch, Neil J., Buckler, Alan J., Gusella, James F., and Breakefield, Xandra O. "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein" Nature Genetics , volume 17, pages 40-47 (1997). 2.) Henehan, Sean "Torsion Dystonia Gene" Access Excellence 3.) Ozelius, Laurie J., Hewett, Jeffrey, Kramer, Patricia, Bressman, Susan B., Shalish, Christo, de Leon, Deborah, Rutter,Marc, Risch, Neil, Brin, Mitchell F., Markova, Elena D., Limborska, Svetlana A., Ivanova-Smollenskaya, Irina A., McCormick, Mary Kay, Fahn, Stanley, Buckler, Alan J., Gusella, James F., and Breakefield, Xandra O. "Fine localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: Yac Map and Linkage disequilibrium" Genome Research , vol.7, pgs. 483-494 (1997).

19. Arch Neurol -- Page Not Found Frequency of the DYT1 Mutation in Primary torsion dystonia Without Family HistoryAuthor Information David Brassat, MD; Agnès Camuzat, BS; Marie Vidailhet, MD http://archneur.ama-assn.org/issues/v57n3/abs/noc8424.html

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20. ORPHANET® : Idiopathic Torsion Dystonia Translate this page ORPHANET. ORPHANET database access. Idiopathic torsion dystonia. Directaccess to details Alias Dystonia musculorum deformans. Home Page. http://www.orpha.net/static/GB/idiopathic_torsion_dystonia.html

ORPHANET database access Idiopathic torsion dystonia Direct access to details Alias : Home Page

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