The Family Village - Dystonia Information, contacts, chat rooms, links related to dystonia.Category Health Conditions and Diseases Dystonia Related Diagnosis Idiopathic torsion dystonia (ITD), Generalized Dystonia,Segawa's Dystonia, XLinked Dystonia, Blepharospasm, Spasmodic Torticollis http://www.familyvillage.wisc.edu/lib_dyst.htm
Extractions: e-mail: dystonia@dystonia-foundation.org Related Diagnosis: Idiopathic Torsion Dystonia (ITD), Generalized Dystonia, Segawa's Dystonia, X-Linked Dystonia, Blepharospasm, Spasmodic Torticollis, Oromandibular dystonia (Meige's syndrome) Spasmodic dysphonia. Dystonia Medical Research Foundation (DMRF) has a mission to advance research into the cause of and cure for dystonia; to create physician and public awareness; and to sponsor patient support groups. The Foundation serves people with dystonia, and their friends and family. They have local support groups, and will provide materials or assistance in starting a local group. Call to locate the group nearest you. They also have a parents' directory. Dystonia Medical Research Foundation publishes Dystonia Dialogue four times a year at no cost to members. The DMRF offers several pamphlets about various types of dystonia, including: Spasmic Torticollis, Spasmodic Dysphonia, and Blepharospasm, and "8-18", A Guidebook for Young People with Dystonia, and a Guidebook for Families: Special Education Rights. DMRF has books and videos for distribution and you can also request a reading list of articles or books pertaining to dystonia.
Dr. Laurie Ozelius torsion dystonia is a neurologic syndrome characterized by involuntary twisting andrepetitive movements due to loss of motor control in different body parts. http://www.aecom.yu.edu/home/sggd/faculty/ozelius.htm
Extractions: DR. LAURIE OZELIUS Molecular Neurogenetic Studies of Movement Disorders Torsion dystonia is a neurologic syndrome characterized by involuntary twisting and repetitive movements due to loss of motor control in different body parts. Hereditary cases do not appear to have any associated neuropathology, but secondary dystonias implicate dysfunction of the basal ganglia in the brain. There are several clinically and genetically distinct subtypes of hereditary dystonia, most of which are inherited as autosomal dominant traits with reduced penetrance (i.e. individuals can carry the disease gene but not express the trait), resulting from over 13 different genes (only three of which are cloned). We have identified a gene (DYT1, TOR1A) for the early onset form of dystonia, in which a 3-bp deletion in the coding region is uniquely associated with almost all cases, regardless of ethnic background or surrounding haplotype. This deletion results in the loss of one of a pair of glutamic acids near the carboxy terminus of a novel protein, torsinA. The protein bears an ATP-binding domain with distant similarity (25-30%) to the heat shock protein (HSP) superfamily and has related homologues in nematode, Drosophilia, zebra fish, rat, mouse and humans. As a first step in understanding the function of this protein, we are generating a transgenic mouse model in an attempt to replicate a genetically authentic animal model for this disease. We are also interested in exploring the role that the torsin related mammalian genes (TOR2A and 3A) may play both in other forms of dystonia and in the reduced penetrance.
The Voice Center: Dystonias And Other Movement Disorders Information about dystonias, from the Voice Center at Eastern Virginia Medical School.Category Health Conditions and Diseases Dystonia Generalized dystonia is also called idiopathic torsion dystonia. A genefor idiopathic torsion dystonia has recently been discovered. http://www.voice-center.com/dystonia.html
Extractions: The Voice Center A dystonia is a type of movement disorder that can affect the entire body or just one group of muscles. This page will give a brief description of dystonias. The most important dystonia affecting the voice is called spasmodic dysphonia, which is described in more detail elsewhere Dystonias are most often characterized by a sustained contraction that produces a torsion or twisting action, and can also be associated with spasmodic contractions. The exact cause of dystonias is still unknown, although the disorder is felt to originate in part of the brain called the basal ganglia. The basal ganglia is important in the initiation and control of movements in the body. Along with dystonia, other movement disturbances that arise from problems in the basal ganglia include Parkinson's disease, Huntington's disease, and Wilson disease. There are several different ways to classify dystonias. For example, dystonia can be classified by the groups of muscles involved using the following terms: generalized focal segmental Although dystonias do not always fit neat categories, generalized dystonias usually involve a large number of muscle groups, while focal dystonias affect a specific group of muscles. Falling somewhere in between are the segmental dystonias.
Entrez-PubMed To date gene loci have been identified in at least six autosomal dominant forms,ie, in idiopathic torsion dystonia (9q34), focal dystonia (18p), adultonset http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Member Sign In Classification and Clinical Features. Dystonia is classified as primary (idiopathic,as in idiopathic torsion dystonia) or secondary (symptomatic). http://www.medscape.com/viewarticle/410595_3
NeuroCAST - Sessions Earlyonset dystonia (Generalized Dystonia or Primary torsion dystonia) usually beginsin childhood or adolescence, typically around 12 years, although the age http://www.neurocast.com/site/content/sessions_Dystonia.shtml
Extractions: Dystonia is a neurological movement disorder characterized by sustained muscle contractions that often induce uncontrollable twisting or repetitive movements, and abnormal postures and positions. The disorder may affect the entire body or only a selected part of it, such as the eyes, neck, arms, or legs. Dystonia may also be associated with pain. It tends to consistently affect the same groups of muscles, thus producing rather predictable movements over time. Initially, dystonia tends to be precipitated by specific movements or tasks, though later it can be activated by sustained movements, and in advanced stages can be present at rest. Symptoms may arise as a result of dysfunction of the basal ganglia or thalamus, parts of the brain responsible for the modulation of movement. Because of the complexity of the condition, it may be misdiagnosed as other disorders, such as stress, stiff or "wry" neck, or a psychogenic disorder. In fact, dystonia is one of the most common movement disorders. According to the Dystonia Medical Research Foundation: Dystonia is estimated to be six times more prevalent than Huntington's Disease, ALS, or Muscular Dystrophy . . . yet as few as five percent of the over 300,000 persons in North America estimated to be affected have been correctly diagnosed.
Idiopathic Torsion Dystonia Idiopathic torsion dystonia. Of unknown cause. Development of dystonicmovements and postures in the absence of other neurological deficits. http://neurology.or.kr/dystonia/tsld029.htm
Nature Genetics volume 17 number 1 page 40 The earlyonset torsion dystonia gene (DYT1) encodesan ATP-binding protein Laurie J. Ozelius 1 , Jeffrey W. Hewett 1 , Curtis E http://www.nature.com/ng/wilma/v17n1.872105457.html
Extractions: Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.
Nature Publishing Group A study of Danish probands with primary torsion dystonia is presented. primarytorsion dystonia; DYT1 gene; de novo mutation; hereditary; nonpenetrance. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v10/n3/full/520078
Torsion Dystonia What is torsion dystonia? The dopamine system is also known to cause Parkinson'sdisease, a fatal disease more prevalent than torsion dystonia. http://pages.framingham.k12.ma.us/fhssci/science/teachers/Slot/dystoniareport.ht
Extractions: Links/Works Cited What is Torsion Dystonia? Torsion Dystonia, also called Dystonia Muscularum Deformans, is a disease that causes one to have involuntary muscle movements, also known as spasms. At times, these movements can cause severe pain and force one into strange looking postures. While research is still ongoing, not much is known about the third leading movement disorder, falling behind Parkinson's Disease and Tremor. Although not fatal, this disease affects 300,000 people in North America alone. This disease is primarily found in the eastern European (Ashkenazi) Jews. However, only a small portion of these people have the disease, only one of 2000-6000 of these people actually has the gene (about 1/160000 of all people have it), and only thirty percent of the people with the gene have symptoms of the disease. Some people who have the gene, around seventy- percent, will never develop the disease or its symptoms, but may still pass it on when they have children. How is this Disease Inherited?
Directory :: Look.com torsion dystonia (3) Sites. Medicine Net torsion dystonia A brief descriptionof this disorder, its onset and symptoms. Pediatric http://www.look.com/searchroute/directorysearch.asp?p=594570
AccuChecker Web Site Diagnosis for Botulinum Toxin Type A (J0585) 333.6. Idiopathic torsion dystonia.333.7. Symptomatic torsion dystonia. 333.81. Blepharospasm. 333.82. http://www.accuchecker.com/AccuLibrary/Articles/botulinumtoxins.asp
Extractions: Date of Revision: 6/29/02 Description: Botulinum toxin (BT) is produced by the bacterium Clostridium Botulinum . Of the variety of toxins (types A to G), the type A (BTA) toxin was Food and Drug Administration (FDA) approved in 1989 for clinical use. Type B toxin (BTB) received FDA approval in December 2000. Botulinum toxin blocks neuromuscular transmission by inhibiting the release of presynaptic acetylcholine at peripheral neuromuscular junctions. This action is probably mediated by cleaving the presynaptic vesicle membrane proteins. Thus, Botulinum toxin produces a chemical denervation. This is the basis for paralysis, which is a cardinal manifestation of botulism. Indications and Limitations of Coverage and/or Medical Necessity: In carefully selected patients, the following conditions may be alleviated by Botulinum toxin A:
AccuChecker Web Site Will be allowed for idiopathic torsion dystonia (333.6), symptomatic torsion dystonia(333.7), multiple sclerosis (340), infantile cerebral palsy (343.0343.4 http://www.accuchecker.com/AccuLibrary/Articles/botulinumtoxintypea.asp
Extractions: Botulinum Toxin Type Date of Revision: 7/19/02 DESCRIPTION: Botulinum Toxin Type A injections are used to treat various focal muscle spastic disorders and excessive muscle contractions such as dystonias, spasms, twitches, etc. They produce a presynaptic neuromuscular blockade by preventing the release of acetylcholine from the nerve endings. The resulting chemical-denervation of muscle produces local paresis or paralysis and allows individual muscles to be weakened selectively. It has the advantage of being a potent neuromuscular blocking agent with good selectivity, duration of action, with the smallest antigenicity, and fewest side effects. The following procedure codes are to be reported with the respective listed covered ICD-9-CM diagnosis code: (See Coding Guidelines for correct reporting of services) HCPCS CODES: Botulinum Toxin Type A per unit Injection into vocal cord laryngoscopy with injection laryngoscopy with injection Uppr GI endoscopy w/us fn bx
Re: Another Question Regarding Anesthesia & Dystonia . You may be aware of cases of oculogyric crises precipitated byanesthesia in people who have idiopathic torsion dystonia. The http://www.medhelp.org/forums/neuro/archive/13878.html
Another Question Regarding Anesthesia & Dystonia =. You may be aware of cases of oculogyric crises precipitatedby anesthesia in people who have idiopathic torsion dystonia. http://www.medhelp.org/perl6/neuro/archive/14169.html
Overclocking By Gregory Cochran torsion dystonia is caused by a dominant gene with low penetrance.. The muscles.torsion dystonia does not cause retardation not hardly. http://www.jerrypournelle.com/reports/cochran/overclocking.html
Extractions: Chaos Manor Special Reports Overclocking Gregory Cochran Thursday, December 12, 2002 Email Jerry Sections Chaos Manor Home View From Chaos Manor Reader Mail Alt.Mail Columns Special Reports Picture Gallery Links Table of Contents What's New ... Getting the Gini out of the Test Tube Gregory Cochran is well known for taking evolution seriously: that is, for questioning how disorders that carry a heavy genetic burden (make having and raising children greatly more difficult) can possibly be "hereditary" in the usual sense. Schizophrenia is one example. His hypothesis is that absent special reasons for selection for otherwise burdensome tendencies or afflictions, these are more likely to be contagious diseases rather than genetically transmitted. In the following essay he looks at overclocking the human system and possible consequences. Everyone knows that Ashkenazi have the highest IQ scores on average of any of the breeds of man. There are many reasons postulated for this including "breeding" for smart in the same way that Jersey cattle are bred for milk production. Might we learn how to get smarter without waiting generations? And
F-I-R-0902-02ac N/A. ICD9 Codes that Support Medical Necessity. 333.6. Idiopathic torsion dystonia.333.7. Symptomatic torsion dystonia. 333.81. Blepharospasm. 333.82. http://www.ahsmedicare.com/medical_review_appeals/provider/LMRP/archived/F-I-R-0
Extractions: Associated Hospital Service Contractors Policy Number F-I-R-0902-02ac Contractor Name Associated Hospital Service Contractor Number Contractor Type Fiscal Intermediary LMRP Title Botulinum Toxin Type A AMA CPT CMS National Coverage Policy Primary Geographic Jurisdiction Maine and Massachusetts Secondary Geographic Jurisdiction N/A CMS Region Region I CMS Consortium Northeast Consortium Original Policy Effective Date August 30, 2001 Original Policy Ending Date N/A Revision Effective Date N/A LMRP Description Botulinum toxin Type A is a potent neuromuscular blocking agent that is used to treat various focal muscle spastic disorders and excessive muscle contractions, such as dystonias, spasms and twitches. It produces a presynaptic neuromuscular blockade by preventing the release of acetylcholine from the nerve endings. Since the resulting chemical denervation of muscle produces local paresis or paralysis, selected muscles can be treated. Indications and Limitations of Coverage and/or Medical Necessity Botulinum toxin type A is indicated for spastic conditions that have been unresponsive to conventional treatment, including medication and physical therapy. It is covered only for the spastic conditions listed below, under Covered ICD-9 Codes. Its use for any other conditions, including smooth muscle spasm, is considered investigational.
