Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report
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 muscul...
Main Authors: | E. O. Ivanova, E. Yu. Fedotov, S. N. Illarioshkin |
---|---|
Format: | Article |
Language: | Russian |
Published: |
ABV-press
2020-06-01
|
Series: | Нервно-мышечные болезни |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/376 |
Similar Items
-
Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report
by: S. S. Nikitin, et al.
Published: (2020-01-01) -
Nutritional Support for Child with Werdnig–Hoffmann Spinal Muscular Atrophy
by: E. A. Balakireva, et al.
Published: (2021-01-01) -
Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia
by: S. A. Kurbatov, et al.
Published: (2019-11-01) -
Adult spinal muscular atrophy: problems of early diagnosis
by: Yu. A. Shpilyukova, et al.
Published: (2022-12-01) -
Experience of Nusinersen in children with proximal spinal muscular atrophy 5q in Moscow region
by: M. V. Panteleeva
Published: (2022-12-01)