ICD-9-CM International Coding Standard forms of tremor 333.2 Myoclonus 333.3 Tics of organic origin 333.4 Huntington s chorea333.5 Other choreas 333.6 Idiopathic torsion dystonia 333.7 Symptomatic http://www.cs.umu.se/~medinfo/ICD9/icd9cm_group6.html
Early-Onset Primary Dystonia (DYT1) EarlyOnset Primary Dystonia (DYT1). DYT1, Dystonia Musculorum Deformans,Idiopathic torsion dystonia Authors Deborah de Leon http://www.geneclinics.org/profiles/dystonia/details.html
Extractions: 21 January 2003 Disease characteristics. Early-onset primary dystonia (DYT1) 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 are present, except for postural arm tremor. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. DYT1 is the most common cause of early-onset primary dystonia. Diagnosis/testing. DYT1 is diagnosed by molecular genetic testing of the gene which reveals a 3-base pair GAG deletion in all affected individuals. Genetic counseling. DYT1 is inherited in an autosomal dominant manner. Offspring of an affected individual or an asymptomatic individual known to have a disease-causing mutation have a 50% chance of inheriting the disease-causing mutation and a 30-40% chance of developing clinical findings. Prenatal testing is available.
Extractions: A familial torsion spasm due to a lesion of the basal ganglia. It begins in one leg and gradually progresses to severe disability. It is characterized by an overextension or over flexion of the hand; inversion of the foot, producing a classical dromedary gait; latero- or retroflexion of the head, torsion of the spine with arching and twisting of the back, forceful closure of the eyes, and a fixed grimace. Usually unilateral. Onset between 5 and 15 years of age. Mostly in Semitic peoples. Both autosomal dominant, recessive, and X-linked forms have been described. Familial cases frequently in Jewish kindreds of eastern European origin. The Polish neurologists Edward Flatau (1869-1932) and Wladyslaw Sterling (1877-1943) described the same condition, also in 1911.
FORWARD : Jewish Genetic Diseases In 1995, he and a team of other researchers investigated the history of idiopathictorsion dystonia, a movement disorder that affects the Jewish population at http://www.forward.com/issues/2001/01.08.17/genetic2.html
Extractions: AUGUST 17, 2001 current issue back issues subscribe By DAVID POLLACK Recent genetic testing methods are producing scientific evidence that is clarifying the origins of Ashkenazi Jewry. Dr. Neil Risch, a researcher at the Department of Genetics at Stanford University, is at the forefront of a field that has brought evidence that may help to break the deadlock between historians who argue over the history and makeup of Ashkenazi Jewry. "There has been a lot of debate about Ashkenazi history," Dr. Risch said. "There is a period of about 1,000 years, before the people settled in Eastern Europe, that's missing from the record." Among the theories seeking to explain the origins of the Ashkenazim is a theory propagated by the late writer Arthur Koestler. Koestler contended that the predecessors of Ashkenazi Jews did not originate in Palestine, but rather in Khazaria, a medieval empire populated by a people of Turkish stock whose nobility converted to Judaism. In "The Thirteenth Tribe: The Khazar Empire and its Heritage" (Random House, 1976) Koestler stated that "the majority of ... world Jewry might be of Khazar and not of Semitic origin," a passage that has led some reviewers of the book to question the historical rights of Jews to Israel. But while Koestler argued that traditional historians were motivated by an "obvious intent to avoid upsetting believers in the dogma of the Chosen Race," geneticists such as Dr. Risch defend the traditional history of Jewish origin. "If you made a [genetic] map of Europe and the Middle East and you put Ashkenazi Jews on it," Dr. Risch said, "they would not end up in Turkey or in the middle of Europe, but in the Mediterranean."
Extractions: 330 Cerebral degenerations usually manifest in childhood Pelizaeus-Merzbacher disease Sulfatide lipidosis 330.1 Cerebral lipidoses 330.2 Cerebral degeneration in generalized lipidoses 330.3 Cerebral degeneration of childhood in other diseases classified elsewhere 330.8 Other specified cerebral degenerations in childhood 330.9 Unspecified cerebral degeneration in childhood
About Dystonia In primary (or idiopathic torsion) dystonia no other functions of thebrain are involved anti investigations reveal no identifiable cause. http://www.dystonia.org.uk/aboutdystonia/aboutdystonia.html
Extractions: WHAT IS DYSTONIA? Dystonia is the term used to describe a condition dominated by involuntary sustained muscle spasms which can be extremely painful. These can affect various parts of the body and cause abnormal movements and postures. PRIMARY (Idiopathic Torsion) DYSTONIA Spasmodic Torticollis , the commonest of the focal dystonias, involves the neck, the muscle spasms causing the neck to twist to one side (torticollis), forwards (antecollis) or backwards (retrocollis). The neck may pull, turn or jerk; eventually it maybe held permanently in one direction. Blepharospasm is a focal dystonia of the muscles around the eyes. Early symptoms may be uncontrollable blinking, especially in bright light. Sometimes spasms can become so frequent that the eyelids remain tight shut, making the patient unable to see even though the eyes and vision itself are normal. Oromandibular Dystonia is a focal dystonia of the muscles of the jaw, tongue and mouth. The spasms may cause the mouth to pull open or shut tight. Speech and swallowing may be distorted. Cranial Dystonia Laryngeal Dystonia is a focal dystonia of the speech muscles of the throat causing strained or forced speech (sometimes called spasmodic dysphonia), or inability to speak in more than a whisper (whispering dysphonia). Some patients with cranial dystonia may also have laryngeal dystonia.
About Dystonia (a) In primary (or idiopathic torsion) dystonia no other functions of thebrain are involved and investigations reveal no identifiable cause. http://www.dystonia.org.uk/aboutdystonia/aboutdystonia(a).html
Extractions: WHAT IS DYSTONIA? Dystonia is the term used to describe a condition dominated by involuntary sustained muscle spasms which can be extremely painful. These can affect various parts of the body and cause abnormal movements and postures. PRIMARY (Idiopathic Torsion) DYSTONIA Spasmodic Torticollis the commonest of the focal dystonias, involves the neck, the muscle spasms causing the neck to twist to one side (torticollis), forwards (antecollis) or backwards (retrocollis). The neck may pull, turn or jerk; eventually it may be held permanently in one direction. Blepharospasm is a focal dystonia of the muscles around the eyes. Early symptoms may be uncontrollable blinking, especially in bright light. Sometimes spasms can become so frequent that the eyelids remain tight shut, making the patient unable to see even though the eyes and vision itself are normal. Oromandibular Dystonia is a focal dystonia of the muscles of the jaw, tongue and mouth. The spasms may cause the mouth to pull open or shut tight. Speech and swallowing may be distorted. Cranial Dystonia Laryngeal Dystonia is a focal dystonia of the speech muscles of the throat causing strained or forced speech (sometimes called spasmodic dysphonia), or inability to speak in more than a whisper (whispering dysphonia). Some patients with cranial dystonia may also have laryngeal dystonia.
Analysis Of Dystonia-7, Torsion Analysis of dystonia7, torsion, G2D Home. GO TO CHROMOSOMAL REGION Disease mappeddystonia-7, torsion Chromosome 18 Genomic position start-stop 1-19000000 http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U1866
Analysis Of Dystonia-6, Torsion Analysis of dystonia6, torsion, G2D Home. GO TO CHROMOSOMAL REGION Disease mappeddystonia-6, torsion Chromosome 8 Genomic position start-stop 12000001 http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U1865
Member Sign In Bressman et al 9 studied 174 Ashkenazi Jewish patients with idiopathic torsiondystonia and identified genetic linkage to chromosome 9q34, the DYT1 gene. http://www.medscape.com/viewarticle/410595_4
GCH1 Mutation In Adult-Onset OMD Dystonia To date, mutations in specific genes have been identified only in idiopathic torsiondystonia (locus DYT1 )2 and in doparesponsive dystonia (DRD) (locus http://www.dystonia-support.org/la-gch1 mutation in adult-onset omd dystonia.htm
Extractions: GCH1 MUTATION IN A PATIENT WITH ADULT-ONSET OROMANDIBULAR DYSTONIA Daniela Steinberger, MD; Helge Topka, MD;' Diana Fischer; and Ulrich Muller, MD, PhD. NEUROLOGY 1999;51;877-879 Article abstract - The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. The patient responded positively to treatment with L-dopa. These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia. Focal dystonias are usually sporadic, but the occurrence of inherited forms is also well established. Thus,a disease locus was assigned to chromosome 18 in a large family with autosomal dominant focal dystonia.[1] However, no disease gene has yet been isolated. To date, mutations in specific genes have been identified only in idiopathic torsion dystonia (locus: DYT1 )[2] and in dopa-responsive dystonia (DRD) (locus: DYT5).[3] In idiopathic torsion dystonia, the disease gene codes for an ATP-binding protein and in DRD for GTP cyclohydrolase I (GTPCHI). DRD is also known as Segawa syndrome, hereditary progressive dystonia with marked diurnal fluctuation, and dystonia 5.[3] The disorder is inherited as an autosomal dominant trait with reduced penetrance and highly variable expression of symptoms. Completely expressed forms of DRD are characterized by onset of dystonia during childhood or adolescence, pronounced diurnal fluctuation of symptoms, parkinsonism, and a dramatic therapeutic response to L-dopa .[4] Generalized or segmental dystonia in the absence of
