title: [Clinical genealogical and electrophysiological analysis of the hereditary sensorimotor neuropathies in the region of Samara].
abstract: The paper presents the results of clinical-genealogical and electrophysiological (electromyography, evaluation of the autonomic system's state) examination of patients with hereditary motor-sensory neuropathies, which were included in the long-term registry of Samara region. Some genetic features of the disease have been revealed (intrafamilial polymorphism of different degree, effect of the ancestor in the dominant forms). Electrophysiological peculiarities of the separate clinical-genealogical variations of the pathology, the dynamics of pathophysiological changes in course of disease were found. Obligation of involvement of the autonomic structures in the pathological process is shown (on the example of changes of the indices of cardiointervalography and of the evoked dermal sympathetic potentials). Clinical genealogical and pathophysiological characteristics of the three variations of the hereditary motor-sensory neuropathy revealed in the region of Samara are provided; that was a basis for early diagnosis of the disease and for its differential diagnosis as well as for the choice of the correcting therapy.
authors.forename: V V
authors.initials: VV
authors.lastname: Skupchenko
authors.forename: T V
authors.initials: TV
authors.lastname: Romanova
mesh_terms: D001341:Autonomic Nervous System / Q000503:physiopathology; D002391:Catchment Area, Health; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics; D012426:Russia / Q000453:epidemiology