[Problems of the clinical polymorphism of hereditary extrapyramidal disorders].
The authors analyse the polymorphism of certain hereditary extrapyramidal system diseases and call attention to their intrafamilial and interfamilial characteristics. Various diseases are described: 5 forms of hepatolenticular degeneration, 2 forms of torsion dystonia, 3 forms of idiopathic tremor, 3 forms of Huntington's chorea. Clinical peculiarities, peculiarities of the course of the disease, and biochemical changes in these diseases are discussed. In the forms associated with rigidity or with hyperkinesis in the same disease (torsion dystonia, Huntington's chorea) abnormalities of various directions were discovered in the metabolism of neurotransmitters and amino acids, which make possible application of differentiated pathogenetic therapy.
D001480:Basal Ganglia Diseases / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D011110:Polymorphism, Genetic
D007980:Levodopa
Zagadnienia polimorfizmu klinicznego dziedzicznych chorób pozapiramidowych.