Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report

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Abstract

The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes. The main motor manifestations of the spinal and bulbar muscular atrophy are weakness, atrophy and fasciculation of the muscles of the limbs and bulbar group. Traditionally spinal and bulbar muscular atrophy belongs to the group of motor neuron diseases, but in recent years there is increasing evidence of a significant role of primary muscle pathology in the pathogenesis and clinical picture of this disease. This article provides a review of the literature on the pathogenesis, clinical manifestations and diagnosis of the spinal and bulbar muscular atrophy. We present a case report of the spinal and bulbar muscular atrophy with a clinical findings resembling metabolic myopathy.

About the authors

E. O. Ivanova

Research Center of Neurology

Author for correspondence.
Email: kate-fileo@mail.ru
ORCID iD: 0000-0003-3337-1759
80 Volokolamskoe shosse, Moscow 125367, Russia Russian Federation

E. Yu. Fedotov

Research Center of Neurology

Email: fake@neicon.ru
ORCID iD: 0000-0001-8070-7644
80 Volokolamskoe shosse, Moscow 125367, Russia Russian Federation

S. N. Illarioshkin

Research Center of Neurology

Email: fake@neicon.ru
ORCID iD: 0000-0002-2704-6282
80 Volokolamskoe shosse, Moscow 125367, Russia Russian Federation

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Copyright (c) 2020 Ivanova E.O., Fedotov E.Y., Illarioshkin S.N.

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