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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. It commonly begins with contractions in one general area such as an ...
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 ...
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.
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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 ...
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 ...
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
Along with neurologist Hermann Oppenheim, the "Ziehen-Oppenheim syndrome" is named, a condition defined as genetic torsion dystonia (spasms) due to a lesion of the basal ganglia. [ 3 ] As an anatomist, Ziehen published a series of extensive descriptions of the human spinal cord, medulla oblongata, pons and cerebellum in Karl von Bardeleben 's ...