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Studies Funding Opportunities Award Materials Clinical Trials Links Scientific Advisory Board (datebase fields for abstracts, sort by funding type then date, in this order: contracts, grants, and fellowships): Funding Type Date Title Investigator Institution City State Abstract (500 words). Funding Type: Contract Date: 2000 Title: The Generation and Characterization of an Animal Model of DYT1 Investigator: William Dauer, M.D. Institution: Columbia University City: New York State: NY Abstract: DYT1 dystonia is caused by a mutation in the gene which codes for a protein named TorsinA. This mutation is a three base-pair deletion in the gene. An important element of dystonia research as a whole is to examine the chemical and biological consequences of this mutation. Dr. Dauer's project (which began last year) has two basic aims. The first is to make a disease model of DYT1 dystonia in mice. This is accomplished by altering the mouse TorsinA gene so it contains the same mutation as that found in the disease. The second aim is to create a mouse in which the TorsinA gene is completely missing. This will help to determine the normal function of TorsinA. Ideally each mouse will exhibit motor abnormalities that may help illustrate the function of the TorsinA protein and the way in which the mutation leads to disease.
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Focal Forms of Blepharospasm Cervical Embouchure Limb Oromandibular Spasmodic Writer's Cramp Inherited Forms of Early-Onset Generalized Dopa-Responsive Paroxysmal X-Linked -Parkinsonism Myoclonic Rapid-Onset -Parkinsonism Secondary Form of Links Writer s Cramp What is Writer s Cramp? Specific actions may induce dystonia in particular areas. Closely related to skilled activities, these action-induced or task-specific dystonias are known as "occupational dystonias." Writer s cramp, the best known occupational dystonia, is a pure action dystonia triggered only when the person attempts to write or perform other fine hand functions, such as playing a musical instrument. The hand and finger muscles contract or extend, halting the action or causing the exaggerated posture to continue. Some people notice that the hand freezes during an attempt to move across the page and describe the hand as having a "mind of its own." As soon as the writing instrument is removed from the hand, the muscles relax. Symptoms Common manifestations of simple writer s cramp include excessive gripping of the pen, flexion, and sometimes deviation of the wrist, elevation of the elbow, and occasional extension of a finger or fingers causing the pen to fall from the hand. Sometimes the disorder progresses to include the elevation of shoulders or the retraction of arm while writing. Rarely, tremor instead of sustained dystonic posture, is seen. In people with dystonic writer s cramp, dystonia symptoms appear with other tasks such as eating with utensils, applying make-up, shaving, using scissors, screwdrivers, or other tools, and performing other manual tasks in addition to writing. Cramping or aching of the hand is not common. Discomfort may occasionally be present in the fingers, wrist, or forearm, but it is usually mild. A similar cramp may be seen in musicians as the violin is Writer's Cramp What is it? Symptoms Types Cause Diagnosis Medications Botulinum Toxin Surgery Complementary Therapy Related Questions Botox Reimbursement Media Icon
Focal Forms of Intro text Blepharospasm Cervical Embouchure Limb Oromandibular Spasmodic Writer's Cramp Inherited Forms of Form Name Form Name Form Name Early-Onset Generalized Dopa-Responsive Form Name Paroxysmal X-Linked -Parkinsonism Myoclonic Rapid-Onset -Parkinsonism Secondary Roll-over text Forms of Links
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