title: [Characteristics of the clinical course, pathogenesis and treatment of torsion dystonia in childhood].
abstract: A total of 150 patients, predominantly children, with torsion dystonia++ (TD) were investigated. Their clinical syndromes, pathogenesis and results of treatment were analyzed. Prominent features were interfamilial (true heterogeneity) and intrafamilial clinical polymorphism of the disease. Autosome-dominant++ type of inheritance was found in 15 families and the autosome-recessive in 10. With respect to the clinical syndrome, 2 forms of TD were singled out: dystonic-hyperkinetic++ and rigid. These were different in the neurotransmitter metabolism. Long-term follow-up of the patients (2 to 20 years) proved a high efficiency of treatment with low doses of DOPA-containing drugs in rigid forms of TD.
authors.forename: E D
authors.initials: ED
authors.lastname: Markova
mesh_terms: D000293:Adolescent; D002648:Child; D004422:Dystonia Musculorum Deformans / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D009127:Muscle Rigidity / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D011110:Polymorphism, Genetic
chemical_list: D007980:Levodopa
vernacular_title: Osobennosti kliniki, patogeneza i lecheniia torsionnoĭ distonii v detskom vozraste.