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Dystonia Musculorum Deformans: more detail

Dystonia Musculorum Deformans: A Genetic and Clinical Population Study of 121 Cases. Acta Neurologica Scandinavica Supplement 17 by Tage & Sjogren, [Karl Gustav] Torsten Larsson, 1966-01-01
Dystonia musculorum deformans;: A genetic and clinical population study of 121 cases, (Acta neurologica Scandinavica) by Tage Larsson, 1966
Dystonia Musculorum Deformans: A Genetic and Clinical Population Study of 121 Cases. Acta Neurologica Scandinavica Supplement 17 by Tage & Sj"gren, Torsten (born 1896) Larsson, 1966
Dystonia Musculorum Deformans by Tage Larsson and Torsten Sjogren and Gota Sjogren, 1966
Living Well with Dystonia: A Patient Guide by M.D. Daniel Truong, M.D. Mayank Pathak, et all 2010-04-13
Dystonia, 2 (Advances in Neurology) (Vol 50) by Stanley Fahn, C. David Marsden, 1988-02
The Victim Is Always the Same (Norton Library) by Irving Spencer Cooper, 1976-07-17

lists with details

Entrez PubMed
Corpus Striatum/pathology; Dopamine/analysis; Dopamine/metabolism*; DystoniaMusculorum Deformans/metabolism*; dystonia musculorum deformans/pathology
http://www.facultyof1000.com/pubmed/12177384

Extractions: My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: Neurology.
Clinical Research - Personal Accounts
Generalised dystonia deformans. Prof. Philippe Coubes of Neurosurgery did you undertake a clinical research project on dystonia musculorum deformans?
http://www.chu-montpellier.fr/gb/rc-temoi02.html

Extractions: Personal accounts Generalised dystonia deformans: Prof. Philippe Coubes of Neurosurgery describes his research project on generalised dystonia deformans. Why did you undertake a clinical research project on dystonia musculorum deformans? The team in your unit is working on several subjects. What are these? The research topics are: - Agathe Roubertie: pheno-genotypical characterisation of dystonic syndromes, DOPA receptor mapping, creation of an international database of generalised dystonic syndromes; - Nathalie Vayssieres: validation of stereotactic neurosurgery using MRI (detection and treatment of distortions, 3D modelling of basal ganglia, introduction of framed fusion imaging); - Simone Hemm: study of variations in brain impedance in stimulated dystonic children, influence on the choice of target, influence of the effects of therapy; - Laura Cif: development and assessment of a computer scale for clinical rating of dystonia. 25 patients have so far been treated within the framework of a Huriet Act protocol. Results are very encouraging. Montpellier CHU is in a pioneer position and is the only centre providing this treatment which is highly restrictive in terms of equipment and costs. French medical teams refer their patients to us. Foreign patients cannot be treated. What pitfalls did you meet with during the project?
Research Topics Abnormal Movement In Children Evaluation Of Deep
in electrode/brain impedance in patients with dystonia musculorum deformans as a treatment of idiopathic dystonia musculorum deformans case report.
http://www.chu-montpellier.fr/GB/rechcliniq/act-neurochir-b.html?id=79&LANG=GB
UVA Neurogram - Dystonia
This term includes inherited dystonias (eg, dystonia musculorum deformans associatedwith the DYT1 gene on chromosome 9) along with idiopathic dystonias
http://www.healthsystem.virginia.edu/internet/neurogram/neurogram2_1_dystonia.cf

Extractions: [ Skip Navigation ] The Neuro Center's physician newsletter. Click here to go to Neurogram's home page Dystonia is a neurologic syndrome characterized by involuntary, sustained, patterned and often repetitive muscle contractions of opposing muscles, causing twisting movements or abnormal postures. Dystonia is a fairly common neurological disorder with a prevalence of approximately 1 in 3,400 for focal dystonia and 1 in 29,400 for generalized dystonia.(1) If patients with drug-induced tardive dystonia related to neuroleptic medications and secondary dystonia related to brain injury are added to this group, the prevalence figure can probably be doubled and approaches that of multiple sclerosis.(2) All gender, ethnic, and socioeconomic groups are equally affected. Clinical presentation If one dichotomizes movement disorders to those with reduced movement (akinetic-rigid syndromes) versus those with excessive movement (hyperkinetic syndromes), dystonia falls into the hyperkinetic disorder category. However, distinguishing dystonia from other hyperkinetic movement disorders may be challenging. The clinical characteristic of dystonia that helps differentiate it from other hyperkinetic movement disorders is that dystonic movements are repetitive and stereotyped, with involvement of the same group of muscles. For instance, a patient with idiopathic cervical dystonia or spasmodic torticollis with involuntary right-head rotation will continue to have right-head rotation throughout the duration of his disorder. By comparison
Abstracts: GENETICS OF DYSTONIA
Pathology of the torsion dystonias (dystonia musculorum deformans). dystonia musculorum deformans Clinical, genetic and pathoanatomical studies.
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).
%224500 DYSTONIA MUSCULORUM DEFORMANS 2; DYT2
Santangelo (1934) observed dystonia musculorum deformans in 3 of 5 children froma marriage of unaffected second cousins. Eldridge (1967) concluded, from a
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:224500] -e
128100 TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1
dystonia musculorum deformans 1 EARLYONSET TORSION DYSTONIA; EOTD Wechsler,IS; Brock, S. dystonia musculorum deformans with especial reference to a
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:128100] -e
CSH/Sjældne Handicap/Korte/Dystonia Musculorum Deformans
dystonia musculorum deformans. (Idiopathic torsion dystonia). Denne arveligelidelse optræder i to former type 1 er dominant arvelig og viser sig i
http://www.csh.dk/sjaeldne_handicap/korte/dystonia_musculorum_deformans.html

Extractions: Denne arvelige lidelse optræder i to former: type 1 er dominant arvelig og viser sig i voksenalderen, type 2 er recessivt arvelig og viser sig i barndommen. Begge typer er særligt hyppige blandt Askenazi jøder. Sygdommen er en langsomt fremadskridende nervelidelse med skader i hjernens centrale kerner. Symptomerne viser sig i begyndelsen med mangelfuld kontrol og ufrivillige, vridende bevægelser af afgrænsede muskelgrupper, f.eks. et ben. Over flere år udvikles tilsvarende symptomer fra øvrige muskelgrupper inkl. ansigtets og tungens muskler. Medicinsk behandling kan dæmpe symptomerne. John Østergaard Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap.
OMIM Entry 224500
*224500 dystonia musculorum deformans 2; DYT2 Santangelo (1934) observeddystonia musculorum deformans in 3 of 5 children from a marriage of unaffected
http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?224500
Dystonia
This is also known as primary torsion dystonia or dystonia musculorum deformans.The usual age of onset is between 5 and 16 years.
http://www2.netdoctor.co.uk/diseases/facts/dystonia.htm

Extractions: The UK's leading independent health website Search NetDoctor NetDoctor.co.uk Home News and features News Newsletter Features Encyclopaedia Diseases Examinations Medicines Premium services SMS services StayQuit thediet Health centres ADHD Allergy and asthma Children's health Depression ... All health centres Discussion and support Discussion forums Support groups Services Ask the doctor Find a hospital Search Medline Test yourself Information About NetDoctor Commercial opportunities NetDoctor.com Dystonia Written by Dr Helen Hanson , Movement Disorders Unit, King's College Hospital, London and Dr K Ray Chaudhuri , Movement Disorders Unit, King's College Hospital, London Dystonia is a syndrome of spasms and sustained contractions of the muscles. These muscle movements are not under voluntary control and they result in repetitive abnormal movements of parts of the body or persistently abnormal postures. Dystonia can affect virtually any single part of the body or several different areas at once.
WE MOVE - Dystonias Caused By DYT1 Gene Mutation
This form of primary dystonia is also known as dystonia musculorum deformans (DMD).Other forms of DYT1 dystonia include Earlyonset primary dystonia
http://www.wemove.org/dys/dys_ddyt1.html

Extractions: E-mail: wemove@wemove.org Most cases of early-onset primary dystonias, which may become symptomatic during childhood or early adulthood, are due to mutations of a gene known as . This gene has been mapped to the long arm of chromosome 9 at 9q34.1. This form of primary dystonia is also known as Dystonia musculorum deformans (DMD). Other forms of dystonia include... To avoid confusion with other primary dystonias, researchers suggest that this form of the disorder should be referred to as DYT1 dystonia or Oppenheim dystonia, after the researcher who first identified the disease. The mean age of onset of dystonia is approximately 12 years. Symptoms rarely begin after the age of 29 years. In approximately 90 to 95 percent of cases, symptoms begin in a leg or an arm, and then spread to other regions of the body. Patients whose symptoms initially involve a leg tend to have an earlier age of onset than those whose symptoms initially affect an arm. Symptom onset involving a leg is also associated with an increased likelihood that the condition will evolve to generalized dystonia. The rate of progression to generalized dystonia typically occurs more quickly in patients with leg onset compared to those with initial arm involvement. Although the rate of progression is extremely variable from patient to patient, it usually is more rapid within the first 5 to 10 years following symptom onset.
WE MOVE - Essential Tremor - Differential Diagnosis
RamsayHunt syndrome (progressive myoclonic ataxia); Ataxia telangiectasia;dystonia musculorum deformans; DOPA-responsive dystonia
http://www.wemove.org/et/et_dd.html

Extractions: E-mail: wemove@wemove.org Proper diagnosis is crucial as these conditions may also require medical attention. Some people with ET also have associated dystonia including cervical dystonia, writer's cramp, spasmodic dysphonia, and cranial dystonia. Occasionally, patients report associated parkinsonism. The late diagnosis of ET delay treatment and increases the likelihood of functional disability and related psychosocial problems. Essential tremor may be incorrectly assigned to other conditions or, in severe cases, be mistaken for Parkinson's disease, despite the many differences between the two diseases. For example, PD is characterized by hypokinetic features and rigidity. Other conditions that may be mistaken for ET include asterixis, epilepsia partialis continua, clonus, and rhythmic myoclonus.
Rarelink.net - Diagnoselisten Dystonia Musculorum Deformans
Du er her Hjem Diagnoselisten dystonia musculorum deformans DystoniaMusculorum Deformans; Idiopathic Torsion Dystonia, Dystonia Musculorum
http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=76
Rarelink.net - Diagnoselisten Dystonia Musculorum Deformans
Du er her Hjem Diagnoselisten dystonia musculorum deformans (Idiopathic torsion dystonia musculorum deformans (Idiopathic torsion dystonia)
http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=76&synonymId=765
Dystonia Defined
Historically, earlyonset generalized dystonia has also been referred to asidiopathic torsion dystonia (ITD) and dystonia musculorum deformans (DMD).
http://www.dystonia-support.org/dystonia defined.htm

Extractions: DYSTONIA DEFINED Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, which force certain parts of the body into abnormal, sometime painful, movements or postures. Dystonia can affect any part of the body including the arms and legs, trunk, neck, eyelids, face, or vocal cords. It is the third most common movement disorder after Parkinson's Disease and Tremor, affecting more than 300,000 people in North America. Dystonia does not discriminate - affecting all races and ethnic groups. NOTE: For more details on all types of dystonia, causes, treatments, research information, please visit the Dystonia Medical Research Foundation's Website http://www.dystonia-foundation.org/ BLEPHAROSPASM (BEB) More BEB Information Websites Blepharospasm is a focal dystonia characterized by increased blinking and involuntary closing of the eyes. People with blepharospasm have normal vision. Visual disturbance is due solely to the forced closure of the eyelids. Blepharospasm affects the eye muscles and usually begins gradually with excessive blinking and/or eye irritation. In the early stages it may only occur with specific precipitating stressors, such as bright lights, fatigue, and emotional tension. It is almost always present in both eyes. Blepharospasm can occur with dystonia affecting the mouth and/or jaw (oromandibular dystonia, Meige's syndrome). In such cases, spasms of the eyelids are accompanied by jaw clenching or mouth opening, grimacing, and tongue protrusion. For causes, treatments, research information, etc.
Gen,ITD,etc Links Pg
IDIOPATHIC TORSION DYSTONIA (ITD) dystonia musculorum deformans (DMD) DOPARESPONSIVE DYSTONIA (DRD). Dystonia Medical Research Foundation
http://www.dystonia-support.org/Gen,ITD,etc Links pg.htm
The Dystonias Fact Sheet
Some patterns of dystonia are defined as specific syndromesTorsion dystonia,previously called dystonia musculorum deformans or DMD, is a rare,
http://www.healthieryou.com/dystonia.html

Extractions: Select One Contact CME? Order? Register? Place an Ad? Print Pages? More... ADD/ADHD Alcoholism Alzheimer's Anorexia Anxiety Bipolar Disorder Borderline Bulimia Children Compulsive Dementia Depression Dissociation Drug Abuse Eating Disorders Fear Forgetfulness Hyperactivity Mania Manic-Dep Mood Disorder Narcissistic Neurology Obsessive OCD Panic Paraphilias Phobia Personality Psychosis PTSD Schizophrenia Seasonal Mood Sexual Issues Social Phobia Suicidal Tic Disorders Violence What are the dystonias? The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Diminished intelligence and emotional imbalance are not usually features of the dystonias. What are the symptoms? Early symptoms may include a deterioration in handwriting after writing several lines, foot cramps, and a tendency of one foot to pull up or drag after running or walking some distance. The neck may turn or pull involuntarily, especially when tired. Other possible symptoms are tremor and voice or speech difficulties. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable and widespread and be unrelenting; sometimes, however, there is little or no progression.
Dystonia.htm
dystonia musculorum deformans. cerebral palsy. progressive supranuclear palsy.Wilson s disease. drugs (neuroleptics, metoclopramide and levodopa)
http://www.geocities.com/davidscerri/dystonia.htm
Flatau-Sterling Syndrome (www.whonamedit.com)
The term dystonia musculorum deformans, coined by the German neurologist HermannOppenheim (18581919) in 1911, was criticized by Flatau and Sterling (1911)
http://www.whonamedit.com/synd.cfm/2271.html

Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Dystonia is a neurologic syndrome characterized by involuntary, sustained, patterned, and often repetitive muscle contractions of opposing muscles causing twisting movements or abnormal postures. The term dystonia musculorum deformans, coined by the German neurologist Hermann Oppenheim (1858-1919) in 1911, was criticized by Flatau and Sterling (1911) because fluctuating muscle tone was not necessarily characteristic of the disorder, the term musculorum incorrectly implied that the involuntary movement was due to a muscle disorder, and not all patients became deformed. They highlighted the genetic nature of the disorder and suggested the term progressive torsion spasm.
Dystonia
Primary dystonias Generalised dystonia This is also known as primary torsiondystonia or dystonia musculorum deformans. The usual age of onset is between 5
http://www.tiscali.co.uk/lifestyle/healthfitness/health_advice/netdoctor/archive

Extractions: Dystonia is a syndrome of spasms and sustained contractions of the muscles. These muscle movements are not under voluntary control and they result in repetitive abnormal movements of parts of the body or persistently abnormal postures. Dystonia can affect virtually any single part of the body or several different areas at once. What are the risks? It is estimated that there are more than 38,000 people in the UK affected with dystonia. It can be very difficult to diagnose and many doctors will never have seen someone with it before. Therefore, the actual number of people with dystonia may be much higher than estimated. Dystonia affects both men and women. It can affect all age groups but the most common age of onset is between 40 and 60. It can also develop in childhood but then the pattern is generally different from adult-onset dystonia. When dystonia starts in childhood it usually begins in the leg or foot and commonly spreads to involve the entire body. If dystonia begins in adult life it tends to be more localised, usually affecting one part of the body, such as the neck or hand.

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