Biomedical subjects

S Ia Viatkina

Publications and source records attributed to S Ia Viatkina.

5 recordsLinked to original sources

PubMed1991

[Atypical spinal amyotrophy in adults].

The authors describe the clinical pleomorphism of atypical spinal amyotrophy of adults (ASAA) characterized by lesions of the anterior horn structures of the cervical part of the spinal cord as well as by the spreading of the process along the entire length of the spinal cord and to the bulbar part of the spine. This is supported by the electrophysiological and morphological data. The disease begins at the 3d and 4th decades of life and progresses to the lethal outcome due to cardiopulmonary insufficiency. Inheritance occurs by the autosomal dominant type with the high penetrance and by the autosomal recessive type stemming from the long-term inbreeding. ASAA described is identical to the late spinal amyotrophy depicted by S. N. Davidenkov according to the data obtained by Browning, Bernhardt and Strümpel. The appearance of an isolated form of ASAA in Saratov Province may be related to the migration of the population 200 years ago from western Europe to the central land along the Volga.

Adult↗

PubMed1984

[Clinical picture, pathogenesis and geneology of hereditary progressive spinal muscular atrophies].

A clinical-genealogical and electromyographic investigation of 142 patients with spinal muscular atrophies demonstrated a heterogeneous nature of spinal amyotrophies. A group of amyotrophies was specified as determined by the degeneration of only motor cells of the anterior corns. This group includes Werdnig-Hoffmann's infantile spinal amyotrophy, late childhood spinal amyotrophy, Kugelberg-Welander's juvenile amyotrophy, and late distal spinal amyotrophy. The group of spinal neural amyotrophies is made up of the clinical variants which are characterized by the parallel involvement of spinal motor cells and their axons. Spinal neural amyotrophies include the autosomal-recessive childhood and the autosomal-dominant juvenile variants.

Child↗

PubMed1983

[Myotonic dystrophy].

Clinicogenealogical examination of 63 patients with myotonic dystrophy as well as the electromyographic and muscular biopsy findings showed this disorder to represent a distinctive clinical form rather than a variant of Thomsen's myotonia. Considerable clinical inter- and intrafamilial polymorphism of myotonic dystrophy was revealed. The characteristics of the disease among the population of the Kuibyshev region are provided, including the description of its specific manifestations in Ukrainian and Russian families. Incomplete penetration of the myotonic dystrophy gene was elicited, with 83% in the Ukrainian, and 91% in the Russian families.

Adolescent↗

PubMed1981

[Clinicoelectroneuromyographic characteristics of neuralgic amyotrophy].

Clinical and genealogical examinations of 155 patients with neural amyotrophies were carried out. Use was made of general and local electromyography, determinations of the speed of impulse transmission along the efferent fibres of the peripheral nerves, and examinations of the H-reflex. The examinations revealed a great diversity of the clinical forms of the neural amyotrophies, each forms having a definite clinical picture, type of hereditary transmission, and characteristic electrophysiological changes. The electroneuromyographic examinations showed that in cases of Charcot-Marie-Tooth's classical neural amyotrophy neuritic changes were prevailing in rapidly-progressing autosomo-dominant neural amyotrophies and autosomo-recessive infantile neural amyotrophy the peripheral efferent neuron was affected over its entire length. A complex examination of Roussy-Levy's syndrome revealed a pronounced dissociation between the relatively unimpaired motor function and the considerable delay of the impulse transmission along the efferent fibres of the peripheral nerves. In heterozygotic carries signs of mononeuron dysfunction were determined.

Adult↗

PubMed1978

[Clinico-genalogic characteristics of hereditary diseases of the nervous system in the Kuibyshev region].

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.

Ataxia↗