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Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12.
Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). [5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.
Early-onset torsion dystonia: DYT2 224500: HPCA 1p35-p34.2 Autosomal recessive primary isolated dystonia DYT3 314250: TAF1: Xq13 X-linked dystonia parkinsonism: DYT4 128101: TUBB4 [7] 19p13.12-13 Autosomal dominant whispering dysphonia DYT5a 128230: GCH1: 14q22.1-q22.2 Autosomal dominant dopamine-responsive dystonia: DYT5b 191290: TH: 11p15.5
Dystonia is a disorder of involuntary muscle contractions that may cause repetitive and/or abnormal movement or postures. Dystonia is a disorder that causes repetitive involuntary muscle movements ...
Dystonia: G24 Drug induced dystonia: G24.0 Idiopathic familial dystonia 333.6 G24.1 Idiopathic nonfamilial dystonia 333.7 G24.2 Spasmodic torticollis: 333.83 G24.3 Idiopathic orofacial dystonia: G24.4 Blepharospasm: 333.81 G24.5 Other dystonias G24.8 Other extrapyramidal movement disorders G25 Essential tremor: 333.1 G25.0 Drug induced tremor G25.1
Spasmodic torticollis is one of the most common forms of dystonia seen in neurology clinics, occurring in approximately 0.390% of the United States population in 2007 (390 per 100,000). [3] Worldwide, it has been reported that the incidence rate of spasmodic torticollis is at least 1.2 per 100,000 person years, [ 27 ] and a prevalence rate of ...
It presents with torsion dystonia, particularly when presenting at a younger age, which then progresses to parkinsonism with or without ongoing dystonia. Often the two symptoms coexist. The parkinsonian features of X-linked dystonia parkinsonism include festinating gait, bradykinesia, blepharospasm, and postural instability.
Torsin-2A is a protein that in humans is encoded by the TOR2A gene. [5] [6] References Further reading. This page was last edited on 13 October 2022, at 19:51 ...