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Torsion Dystonia torsion dystonia is a rare inherited disease that causes sustained, twisting spasms.These spasms may http://my.webmd.com/hw/health_guide_atoz/tv7896.asp
Extractions: Torsion dystonia is a rare inherited disease that causes sustained, twisting spasms. These spasms may only affect one limb at first but often spread to other limbs and the midsection. Torsion dystonia is usually diagnosed between the ages of 6 and 16 and, once diagnosed, progresses rapidly. Torsion dystonia does not affect mental functioning. It is more common in people of Jewish heritage. Treatment of torsion dystonia includes medications to control muscle spasms. Sometimes brain surgery is done. Genetic testing is available to identify carriers of the disease and help guide decisions about having children.
Extractions: You are in All Conditions ADD/ADHD Allergies Alzheimer's Arthritis Asthma Back Pain Bipolar Disorder Breast Cancer Cancer Cholesterol Management Dental Depression Diabetes Epilepsy Eye Health Heart Disease Hepatitis HIV/AIDS Hypertension Men's Conditions Mental Health Migraines/Headaches Multiple Sclerosis Osteoporosis Parkinson's Sexual Conditions Stroke Weight Control Women's Conditions Generalized Dystonia Primary Dystonia Early-onset Dystonia Childhood-onset Dystonia Dopa-responsive Dystonia (DRD) Focal Dystonia Blepharospasm (Benign Essential Blepharospasm[BEB]) Cervical Dystonia (Spasmodic Torticollis[ST]) Oromandibular Dystonia Writers Cramp Paroxysmal Dystonia Paroxysmal Kinesigenic Dystonia (PKD) Paroxysmal Dystonia Choreathetosis Spasmodic Torticollis (Cervical Dystonia) Spasmodic Dysphonia (SD) X-Linked Dystonia-parkinsonism Late-onset Dystonia Secondary Dystonia Tardive Dyskinesia
DMRF: Forms Of Dystonia: Early-Onset Generalized Dystonia Historically, earlyonset generalized dystonia has also been referred to asidiopathic torsion dystonia and dystonia musculorum deformans. Back to top http://www.dystonia-foundation.org/defined/early.asp
Extractions: Symptoms in early-onset generalized dystonia can range from twisted postures, turning in of the foot or arm, muscle spasms, unusual walking with bending and twisting of the torso, rapid, sometimes rhythmic, jerking movements; and progression of symptoms leading to sustained or fixed postures. Because the legs and trunk are so commonly affected in early-onset generalized dystonia, abnormal gait may be common. Factors such as age and site play a significant role in the progression of early-onset generalized dystonia. The younger the age of onset, the more likely the dystonic symptoms will begin in one of the legs, spread upward to other areas, and possibly become generalized. Symptoms commonly begin with a specific action, that is, the abnormal movements appear with a specific action, and are not present at rest. For example, if it begins in one leg, the symptoms may only be present when walking and disappear when the child runs or walks backwards.
Extractions: @import "../../css/layout.css"; home molecular genetics Early Onset Torsion Dystonia 1 Early onset torsion dystonia is an autosomal dominant disorder due to a mutation in the gene on chromosome 9q34. Penetrance is low with only around 30% of individuals with a mutation expressing the disease. However penetrance varies between families. A 3bp GAG deletion in the gene is the only mutation so far detected in a large number of patients from different ethnic backgrounds. represents only one of a clinically and genetically heterogeneous group of idiopathic torsion dystonias. Most patients with atypical presentation for do not have the GAG deletion. In addition to supplying standard patient and referral information, the following should be clearly indicated: Any family history, including names, dates of birth and genetics test results if available. Blood (3-5ml) in EDTA.
Extractions: Torsion Dystonia Gene: Torsion dystonia is caused by mutations in the DYT1 gene, which is located at 9q34. It encodes torsinA, an ATP-binding protein that resembles a heat-shock protein. It is dominantly inherited. Mutations and testing: More than 90% of early-onset cases of torsion dystonia in the Ashkenazi Jewish population are caused by a GAG deletion. This deletion is estimated to have low penetrance and only produces symptoms in 30% of the people who carry it. Traits: Treatment: Treatment is aimed predominately at the relief of symptoms. Medications may be used to block the transmission of the nerve impulses that initiate the contractions. Surgery may be helpful in more serious cases. To reduce the number and severity of contractions caused by stress, hypnosis, sleep, and relaxation may help. Torsion Dystonia from Geneclinics.org
Extractions: Torsion Dystonia 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. 1 in 6,000 to 1 in 2,000 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. Technical Information on Torsion Dystonia Additional Information:
Dystonia Dystonia is a group of movement disorders that vary in their symptoms, causes,progression, and treatments. Synonyms. torsion dystonia http://www.bchealthguide.org/kbase/nord/nord31.htm
Extractions: It is possible that the main title of the report Dystonia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Dystonia is a group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures).
Extractions: News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders Funding ... Jobs and Training You are here: Home News and Events Press Releases The nation's leading supporter of biomedical research on disorders of the brain and nervous system. News Press Releases - you are in this section News Articles Funding News Events Calendar of Events Proceedings Online Events Congressional Testimony NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Gene Sequenced for Disabling Childhood Movement Disorder: Early-Onset Torsion Dystonia Protein Found For release: Wednesday, September 03, 1997 Overview Get Web page suited for printing Email this to a friend or colleague Scientists have sequenced the gene responsible for early-onset torsion dystonia and have found a new class of proteins that may provide insight into all of the dystonia disorders. Dystonia disorders cause involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor, and abnormal posture. The discovery of the gene will make diagnosis of early-onset torsion dystonia easier and allow scientists to investigate other factors that might contribute to the disease. The study, supported by the National Institute of Neurological Disorders and Stroke (NINDS), is published in the September 1997 issue of Nature Genetics.*
Extractions: News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders Funding ... Jobs and Training You are here: Home News and Events News Articles The nation's leading supporter of biomedical research on disorders of the brain and nervous system. News Press Releases News Articles - you are in this section Funding News Events Calendar of Events Proceedings Online Events Congressional Testimony NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Dystonia Protein Linked to Problem Common in Other Neurological Disorders For release: Monday, March 24, 2003 Overview Get Web page suited for printing Email this to a friend or colleague A new study links the protein that is impaired in the movement disorder torsion dystonia to a problem that is common to many neurological diseases. The finding may point to new treatments for dystonia, Parkinson's disease, and other disorders. In people with torsion dystonia, an altered gene causes a protein called torsinA to be formed in an abnormal way. Researchers have long wondered how the abnormal version of the protein leads to the disease. The new study shows that the normal protein helps to prevent abnormally folded proteins from clumping together, or aggregating, inside the body's cells. Abnormal clumps of proteins have been identified in Parkinson's, Alzheimer's, Huntington's, and a variety of other neurological diseases. The study appears in the February 1, 2003, issue of
Extractions: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Carbon, M. Articles by Eidelberg, D. Related Collections PET American Academy of Neurology M. Carbon, MD S. Su, BSc V. Dhawan, PhD D. Raymond, MS S. Bressman, MD and D. Eidelberg, MD Background: The authors have previously used [ F]fluorodeoxyglucose (FDG) PET to identify a reproducible pattern of regional glucose metabolism that was expressed in both manifesting and nonmanifesting carriers of the primary dystonia mutation. Objective: To identify specific regions that discriminated subjects according to clinical penetrance and genotype.
Extractions: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Furukawa, Y. Articles by Kish, S. J. Neurology Brief Communications Yoshiaki Furukawa, MD Oleh Hornykiewicz, MD Stanley Fahn, MD and Stephen J. Kish, PhD From the Movement Disorders Research Laboratory (Dr. Furukawa) and Human Neurochemical Pathology Laboratory (Dr. Kish), Centre for Addiction and Mental Health, The Clarke Division, Toronto, Ontario, Canada; Institute of Biochemical Pharmacology (Dr. Hornykiewicz), University of Vienna, Austria; and the Department of Neurology (Dr. Fahn), Columbia-Presbyterian Medical Center, New York, NY. Address correspondence and reprint requests to Dr. Yoshiaki Furukawa, Movement Disorders Research Laboratory (R 211), Centre for Addiction and Mental Health, The Clarke Division, 250 College Street, Toronto, Ontario M5T 1R8, Canada; e-mail:
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BioMed Central | Abstract | Torsion Dystonia In Children torsion dystonia in Children Vanessa K Hinson MD PhD and Christopher G Goetz MDDepartment of Neurological Sciences, 1725 West Harrison Street Suite 755, http://www.biomedcentral.com/1092-8480/5/291/abstract
Extractions: Medical treatment of childhood-onset dystonia can lead to substantial improvement of the condition, often with much more pronounced benefit than in adults. The authors give every patient a trial of levodopa to assess the possible diagnosis of dopa-responsive dystonia, followed-up with centrally acting anticholinergics such as trihexiphenydil. If needed, baclofen or clonazepam is added or substituted. In focal dystonia or segmental and generalized dystonia with prominent involvement of specific muscle groups, botulinum toxin injections are often used. Pallidal deep brain stimulation is offered to selected patients with medically refractory dystonia. Treatment of secondary dystonias, caused by such conditions as Wilson's disease, requires therapy for the underlying disorder. Physical therapy, splints, and occupational therapy can be useful in some patients. The authors do not use intrathecal baclofen unless there is evidence of accompanying spasticity.
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Extractions: Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Jarman, P R Articles by Nygaard, T G Related Collections Other Neurology Genetics J Neurol Neurosurg Psychiatry 395-397 ( September ) Primary torsion dystonia: the search for genes is not over P R Jarman a N del Grosso b E M Valente a B Leube c E Cassetta d A R Bentivoglio d H M Waddy e R J Uitti f D M Maraganore g A Albanese d M Frontali b G Auburger c S B Bressman h N W Wood a T G Nygaard h a Department of Clinical Neurology, Institute of Neurology, London, UK, b Instituto di Medicina Sperimentale, CNR, Roma, Italy, c d Institute of Neurology, Universita Cattolica del S Cuore, Roma, Italy
Extractions: ISI Web of Science (2) Request Permissions PubMed PubMed Citation Articles by Koh, Y.-H. Articles by Ganetzky, B. Young-Ho Koh Kimberly Rehfeld and Barry Ganetzky Laboratory of Genetics, 445 Henry Mall, University of Wisconsin Madison, Madison, WI 53706, USA Received May 3, 2004; Revised June 23, 2004;
Extractions: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: Oxford University Press Jeffrey Hewett Charo Gonzalez-Agosti Damien Slater Philipp Ziefer Sang Li Daniele Bergeron David J. Jacoby Laurie J. Ozelius Vijaya Ramesh and Xandra O. Breakefield Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent
