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Topic: Torsion dystonia

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	Dystonia
		BACKGROUND: Early-onset torsion dystonia is a hyperkinetic movement disorder caused by a deletion of 1 glutamic acid residue in torsin A protein, a novel member of the AAA family of adenosine triphosphatases.
		The affected family members in the upper generations presented with focal or segmental dystonia; it was postural dystonia of the legs in the former, and writer's cramp or tremor of the arms in the latter families.
		Early-onset idiopathic torsion dystonia (ITD) is an autosomal dominant hyperkinetic movement disorder with incomplete penetrance, associated with a 3 base-pair deletion in the DYT1 gene on chromosome 9q34.
	lansbury.bwh.harvard.edu /Literature/Review/dystonia.htm (8305 words)

	HighBeam Encyclopedia - torsion balance (Site not responding. Last check: 2007-10-25)
		The torsion balance consists essentially of a wire or thread attached at one end and arranged in such a way that a force applied at the other, or free, end tends to twist it out of shape.
		Torsion balances are used to measure small electric, magnetic, and gravitational forces.
		The invention of the torsion balance is commonly credited to the English geologist John Michell, who made his instrument c.1750, and to the French physicist Charles A. de Coulomb, who independently devised such a balance c.1777.
	www.encyclopedia.com /html/t/torsionb.asp (270 words)

	DMRF: Forms of Dystonia: Early-Onset Generalized Dystonia (Site not responding. Last check: 2007-10-25)
		Early-onset generalized dystonia, the most common hereditary form of dystonia, is characterized by the twisting of the limbs, specifically the foot/leg or hand/arm.
		Dystonia is usually present continually throughout the day whenever the affected body part is in use and may disappear with sleep.
		Early-onset generalized dystonia is believed to be due to abnormal functioning of the basal ganglia which are deep brain structures involved with the control of movement.
	www.dystonia-foundation.org /defined/early.asp (2020 words)

	Torsion Dystonia \| www.somethingjewish.co.uk
		At age 11, the dystonia was generalized, her limbs became rigid and contracted, and she had to rely on a wheelchair for mobility.
		The children of an individual affected with dystonia due to mutations in the gene on chromosome 9 have a 50% chance of inheriting the gene mutation which causes the disease, but symptoms of dystonia occur in only 30% of individuals who inherit the dystonia gene mutation.
		One mutation in the gene appears to be the cause of torsion dystonia in almost all affected Ashkenazi Jews, and genealogical research has shown that this dystonia gene mutation in the Ashkenazi Jewish population came from a single mutation about 400 years ago.
	www.somethingjewish.co.uk /articles/371_torsion_dystonia.htm (566 words)

	NeuroCAST - Sessions
		Dystonia is a neurological movement disorder characterized by sustained muscle contractions that often induce uncontrollable twisting or repetitive movements, and abnormal postures and positions.
		Dystonias are usually categorized by age of onset, distribution of affected body regions, and the cause of the disease.
		While adult onset dystonia tends to start in the upper extremities, head or neck, and remain focal in distribution, childhood onset dystonia tends to progress from a focal to a generalized distribution, affecting most or all of the body.
	www.neurocast.com /site/content/sessions_Dystonia.asp (1241 words)

	Dystonias Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)
		Torsion dystonia, previously called dystonia musculorum deformans or DMD, is a rare, generalized dystonia that may be inherited, usually begins in childhood, and becomes progressively worse.
		Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia where some of the messages that initiate muscle contractions are processed.
		Of the primary dystonias, many cases appear to be inherited in a dominant manner; i.e., only one carrier parent need contribute the dystonia gene for the disease to occur, each child having a 50/50 chance of being a carrier.
	www.ninds.nih.gov /disorders/dystonias/detail_dystonias.htm (2192 words)

	eMedicine - Idiopathic Torsion Dystonia : Article Excerpt by: Rowena Emilia Tabamo, MD
		Initially believed to be a manifestation of hysteria, idiopathic torsion dystonia gradually became established as a neurological entity with a genetic basis.
		With the recent mapping of genes for idiopathic torsion dystonia and identification of a gene for early onset dystonia, the description idiopathic/primary dystonia has become outdated; it now may be viewed as secondary to or symptomatic of an identified cause.
		However, continuing to use "primary" torsion dystonia to classify a group of dystonias as a clinically and genetically heterogenous group of movement disorders is justifiable on the basis that dystonia is the primary and sole abnormality attributable to the condition, and degeneration on pathologic examination is not known.
	www.emedicine.com /neuro/byname/idiopathic-torsion-dystonia.htm (513 words)

	Dystonia - Health and Medical Information produced by doctors - MedicineNet.com
		Dystonia disorders cause involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor, and abnormal posture.
		A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) begins in childhood around the age of 12.
		Some patterns of dystonia are defined as specific syndromes: Torsion dystonia, previously called dystonia musculorum deformans or DMD, is a rare, generalized dystonia that may be inherited, usually begins in childhood, and becomes progressively worse.
	www.medicinenet.com /dystonia/article.htm (671 words)

	Torsion dystonia - Wikipedia, the free encyclopedia
		Torsion dystonia is a disease characterized by painful muscle contractions resulting in uncontrollable distortions.
		The disease is caused by a genetic disorder which results in a defect in a protein called TorsinA.
		Dystonia is related to Parkinson's disease, as TorsinA has scientifically been shown to have a neurotherapeutic effect on dopamine receptors.
	en.wikipedia.org /wiki/Torsion_dystonia (84 words)

	Gene Sequenced For Disabling Childhood Movement Disorder -- Early-Onset Torsion Dystonia Protein Found
		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 appears when a person has one copy of the mutated gene and one copy of the normal gene.
		Researchers believe that dystonia may be caused by a breakdown of the dopamine system in the basal ganglia, a collection of structures in the brain that control movement.
	www.eurekalert.org /pub_releases/1997-09/NIoN-GSFD-030997.php (1126 words)

	Torsion Dystonia Gene (Site not responding. Last check: 2007-10-25)
		Dystonias are disorders characterized by sustained, involuntary muscle contractions that can twist and contort parts of the body.
		Early-onset dystonia, usually appearing before the age of 11, is the most common and severe hereditary form of the disorder, affecting about 50,000 people in North America.
		Patients with advanced dystonia may be confined to a wheel-chair or bedridden.
	www.accessexcellence.org /WN/SUA11/dys997.html (707 words)

	Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Torsion Dystonia
		Gene: Torsion dystonia is caused by mutations in the DYT1 gene, which is located at 9q34.
		Traits: Torsion dystonia is caused by a defect in the DYT1 gene, which may be a heat shock protein.
		Clinical manifestations of Torsion dystonia are involuntary sustained contractions of opposing muscles that cause posturing, initially of the foot, leg, or arm.
	www.jewishgeneticscenter.org /what/ashkenazi/torsion2.asp (393 words)

	Dystonia Support (Site not responding. Last check: 2007-10-25)
		Initially it was believed to be of inorganic origin and as such a manifestation of hysteria, although eventually, idiopathic torsion Dystonia became firmly established as a condition that was organic in origin with a definitive neurological entity and a genetic basis identified as a fault within the DYT1 gene which manifests itself during childhood/adolescent.
		Torticollis is Dystonia of the neck and Blepharospasm is Dystonia of the eyelids.
		As dystonia is know to be due to an inherent abnormality/imbalance of chemicals within the basal ganglia a full account of the functional operating mechanism/responsibilities of the basal ganglia will be presented, to assess where the fault could lie.
	www.dystoniasupport.org /research.htm (4883 words)

	Dystonia
		Dystonia is a group of movement disorders that vary in their symptoms, causes, progression, and treatments.
		Secondary dystonia may be the result of environmental or disease-related damage to a part of the brain called the basal ganglia.
		Tardive dystonia and tardive dyskinesia are common forms of secondary dystonia that are induced by the use of certain drugs.
	hw.healthdialog.com /kbase/nord/nord31.htm (3190 words)

	WE MOVE - Dystonia: References
		Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.
		A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.
		Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family.
	www.wemove.org /dys/dys_ref.html (1085 words)

	Torsion dystonia definition - Medical Dictionary definitions of popular medical terms
		Torsion dystonia: A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) that begins in childhood around the age of 12.
		Early-onset torsion dystonia is not fatal, but it can be severely debilitating.
		Most children with the disorder are unable to perform the simplest of motor tasks and are confined to a wheelchair by the time they reach adulthood.
	www.medterms.com /script/main/art.asp?articlekey=5822 (165 words)

	Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Torsion Dystonia
		Torsion dystonia I is a progressive movement disorder characterized by sustained, twisting muscle spasms.
		Individuals with torsion dystonia have normal early development and normal intelligence.
		There is no cure, but there has been progress in treating dystonia with a variety of medications.
	www.jewishgeneticscenter.org /what/ashkenazi/torsion.asp (141 words)

	eMedicine - Primary Torsion Dystonia : Article by Rowena Emilia Tabamo, MD
		However, continuing to use primary torsion dystonia to classify a group of dystonias as a clinically and genetically heterogeneous group of movement disorders is justifiable because dystonia is the primary and sole abnormality attributable to the condition, and degeneration on pathologic examination is not clearly established.
		Idiopathic dystonia was distinguished from the symptomatic dystonias both by its lack of known cause and the absence of consistent brain pathology.
		Idiopathic or primary torsion dystonia: Despite a negative family history, a genetic basis for dystonia is not ruled out completely, as its mode of inheritance usually is autosomal dominant with reduced penetrance.
	www.emedicine.com /neuro/topic165.htm (5635 words)

	GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs -- Jarman et al. 63 (3): ...
		Dystonia progressed to become generalised in five patients and was segmental and multifocal in one patient each.
		Primary torsion dystonia is an autosomal dominant disorder with reduced (30-40%) penetrance and variable expression.
		Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?
	jnnp.bmjjournals.com /cgi/content/full/63/3/304 (2834 words)

	Torsion dystonia
		Torsion dystonia is a rare inherited disease that causes sustained, twisting spasms.
		Torsion dystonia is usually diagnosed between the ages of 6 and 16 and, once diagnosed, progresses rapidly.
		Treatment of torsion dystonia includes medications to control muscle spasms.
	www.webmd.com /hw/health_guide_atoz/tv7896.asp?printing=true (105 words)

	Primary torsion dystonia: the search for genes is not over -- Jarman et al. 67 (3): 395 -- Journal of Neurology, ...
		Dystonia is characterised by involuntary muscle contractions which often cause twisting and repetitive movements or abnormal
		The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
		Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
	jnnp.bmjjournals.com /cgi/content/full/67/3/395 (1616 words)

	Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium -- ...
		Torsion dystonia is a movement disorder characterized by sustained muscle contractions, frequently causing twisting and repetitive
		Linkage analysis in a family with dominantly-inherited torsion dystonia: Exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromsomal regions using DNA polymorphisms.
		Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-q34.
	www.genome.org /cgi/content/full/7/5/483 (4057 words)

	Dystonia Idiopathic Torsion Information - symptom, cause, picture, treatment of Dystonia Idiopathic Torsion
		Dystonia Idiopathic Torsion is a relatively common disorder that occurs in all ethnic groups, with an approximately equal sex distribution.
		Curiously, however, effective voluntary activity may briefly be regained during an emergency (eg, the patient is able to leap aside to avoid an oncoming motor vehicle).
		Medical Measures for treating Dystonia Idiopathic Torsion Disease - Drug treatment is not required early in the course of parkinsonism, but the nature of the disorder and the availability of medical treatment for use when necessary should be discussed with the patient.
	www.diseasesatoz.com /dystonia-idiopathic-torsion.htm (380 words)

	WE MOVE Discussion Forum: torsion dystonia
		Hi, I have been diagnosed with torsion dystonia, essential tremor,extrapyramidal disease, and gait disturbance.
		I take a very high dosage of Klonopin to sedate the torsion dystonia and decrease the tremor, and take small dosages of Keppra, Wellbutrin, Buproprion and Buspar along with CoQ10 and many antioxidants.
		Torsion dystonia can be any area or generalized and yes mine is generalized - just refers to that good old pulling by the muscle imbalance particularly my hands, feet and neck.
	www.wemove.org /ubb/ultimatebb.php?/topic/14/79.html (2493 words)

	No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia -- ...
		Torsion dystonia is a movement disorder characterised by sustained involuntary muscle contractions, frequently causing
		Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation (published erratum appears in Ann Neurol 1995;37:140).
		Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.
	jmg.bmjjournals.com /cgi/content/full/38/10/e35 (3213 words)

	Medical Dictionary: Torsion dystonia 7 - WrongDiagnosis.com
		Torsion dystonia 7 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Torsion dystonia 7, or a subtype of Torsion dystonia 7, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Torsion dystonia 7:
	www.wrongdiagnosis.com /medical/torsion_dystonia_7.htm (167 words)

	Cervical Dystonia, Spasmodic Torticollis
		Cervical dystonia, spasmodic torticollis, idiopathic torsion dystonia and wry neck all refer to the same disease.
		Dystonia is felt to be a disease of the basal ganglia of the brain.
		This is a collection of neurons (the thinking cells of the brain) that are relatively deeply located.
	www.loftusmd.com /Articles/botulinum/dystonia.html (538 words)

	N.C.M.G. Ireland \| Early Onset Torsion Dystonia 1 Service Description.
		Early onset torsion dystonia is an autosomal dominant disorder due to a mutation in the DYT1 gene on chromosome 9q34.
		A 3bp GAG deletion in the DYT1 gene is the only mutation so far detected in a large number of patients from different ethnic backgrounds.
		Diagnostic tests are performed for patients with clinical symptoms suggestive of Torsion Dystonia.
	www.genetics.ie /molecular/dyt1 (330 words)

	A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity -- Bressman et al. 44 ...
		A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity -- Bressman et al.
		A gene (DYT1) for idiopathic torsion dystonia (ITD) was mapped to
		developed cervical dystonia, and dysarthria or dysphonia occurred in five.
	www.neurology.org /cgi/content/abstract/44/2/283 (571 words)

	Arch Neurol -- Abstract: Frequency of the DYT1 Mutation in Primary Torsion Dystonia Without Family History, March 2000, ...
		Arch Neurol -- Abstract: Frequency of the DYT1 Mutation in Primary Torsion Dystonia Without Family History, March 2000, Brassat et al.
		whom were part of a group of 10 patients with generalized dystonia.
		The DYT1 Mutation and Nonfamilial Primary Torsion Dystonia
	archneur.ama-assn.org /cgi/content/abstract/57/3/333 (300 words)

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