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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.
Primary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system. Researchers suspect it is caused by a pathology of the central nervous system , likely originating in those parts of the brain concerned with motor function—such as the basal ganglia and ...
Dystonia is a disorder of involuntary muscle contractions that may cause repetitive and/or abnormal movement or postures. Skip to main content. Sign in. Mail. 24/7 Help. For premium support please ...
30933 Ensembl ENSG00000160404 ENSMUSG00000009563 UniProt Q5JU69 Q8N2E6 P0C7W3 Q8R1J9 RefSeq (mRNA) NM_001085347 NM_001134430 NM_001134431 NM_001252018 NM_001252021 NM_001252023 NM_130459 NM_152800 RefSeq (protein) NP_001078816 NP_001127902 NP_001127903 NP_001238947 NP_001238950 NP_001238952 NP_569726 NP_001127902.1 NP_690013 NP_001356151 NP_001356152 NP_001356153 NP_001356154 Location (UCSC ...
Download as PDF; Printable version; In other projects Wikidata item; Appearance. ... Torsion dystonia 7; Torticollis; Torticollis keloids cryptorchidism renal dysplasia;
333.6 Idiopathic torsion dystonia; 333.7 Symptomatic torsion dystonia; 333.8 Fragments of torsion dystonia; 333.9 Other and unspecified; 334 Spinocerebellar disease. 334.0 Friedreich's ataxia; 334.1 Hereditary spastic paraplegia; 334.2 Primary cerebellar degeneration; 334.3 Other cerebellar ataxia; 334.4* Cerebellar ataxia in diseases ...
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