title: [Clinico-genalogic characteristics of hereditary diseases of the nervous system in the Kuibyshev region].
abstract: The report contains data of a clinico-genealogical analysis of 450 observations of hereditary diseases of the nervous system, and the prevalence rates of neurohereditary diseases in the Kuibyshev region. The authors stress the significance of the founder effect as a factor lying at the basis of a concentration of autosome-dominant forms in some of the areas of the region. The role of increased inbreeding in the enlargement of the amount of autosome-recessive forms is being confirmed. The results of the study denote that in the population of the studied region the group of nervous-muscular hereditary diseases is most frequent. The main neurohereditary diseases are being clinically defined with an indication of the type of hereditary transmission. The authors underline the significant clinical intra- and inter-familial polymorphism of such diseases as the Charcot-Marie-Tooth neuronal amyotrophy, scapulohumeral-facial myopathy of Landusi-Dejenrinne, primary pelvic-humeral progressive muscular dystrophy, autosoma-dominant myatrophic ataxia, myotonic dystrophy. The authors indicate the necessity of a screening of patients with hereditary diseases of the nervous system.
mesh_terms: D001259:Ataxia / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics; D009224:Myotonia Congenita / Q000235:genetics; D009422:Nervous System Diseases / Q000453:epidemiology / Q000235:genetics*; D012426:Russia; D013577:Syndrome
vernacular_title: Klinko-genealogicheskaia kharakteristika nasledstvennykh bolezneĭ nervnoĭ sistemy v Kuĭbyshevskoĭ oblasti.