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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 ...
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 ...
Late-onset dyskinesia, also known as tardive dyskinesia, occurs after long-term treatment with an antipsychotic drug such as haloperidol (Haldol) or amoxapine (Asendin). The symptoms include tremors and writhing movements of the body and limbs, and abnormal movements in the face, mouth, and tongue – including involuntary lip smacking, repetitive pouting of the lips, and tongue protrusions.
Torsion dystonia 7; Torticollis; Torticollis keloids cryptorchidism renal dysplasia; Torulopsis; Tosti–Misciali–Barbareschi syndrome; Total hypotrichosis, Mari type;
Spasmodic dysphonia, also known as laryngeal dystonia, is a disorder in which the muscles that generate a person's voice go into periods of spasm. [ 1 ] [ 2 ] This results in breaks or interruptions in the voice, often every few sentences, which can make a person difficult to understand. [ 1 ]
Autosomal dominant GTP cyclohydrolase I deficiency; Other names: Autosomal dominant Segawa syndrome (the autosomal recessive form of Segawa syndrome is caused by mutations in a different gene that encodes tyrosine hydroxylase), Dopa-responsive dystonia 5a, Autosomal dominant DYT/PARK-GCH1 (designation in accordance with the Nomenclature of Genetic Movement Disorders maintained by the ...