Open AccessSpinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report
Author(s) -
Ekaterina Ivanova,
Е.Ю. Федотова,
С.Н. Иллариошкин
Publication year - 2020
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2020-10-1-81-87
Subject(s) - spinal and bulbar muscular atrophy , fasciculation , spinal muscular atrophy , motor neuron , progressive muscular atrophy , atrophy , amyotrophic lateral sclerosis , medicine , muscle atrophy , muscle contracture , pathology , pathogenesis , disease , weakness , neuroscience , anatomy , psychology , androgen receptor , cancer , prostate cancer
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.