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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.
Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. [3]
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.
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 is a disorder of involuntary muscle contractions that may cause repetitive and/or abnormal movement or postures.
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 ...
Torsion dystonia 7; Torticollis; Torticollis keloids cryptorchidism renal dysplasia; Torulopsis; Tosti–Misciali–Barbareschi syndrome; Total hypotrichosis, Mari type;
The CIGNA panel is available for testing for parental/preconception screening or following chorionic villus sampling or amniocentesis and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Neimann-Pick disease type A, Tay-Sachs disease, and torsion dystonia.