Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature

Nervno-Myšečnye Bolezni

A. V. Belopasova¹  D. A. Grishina¹  N. A. Suponeva¹  V. V. Shvedkov¹ 

[1] Research Center of Neurology, Russian Academy of Medical Sciences;

关键词: progressive limb-girdle muscular dystrophy;    calpainopathy;    calpain 3;    inherited myopathy;    creatinine phosphokinase;    electromyography;    muscle magnetic resonance imaging;    genetic analysis;    muscle biopsy;    differential diagnosis;   

DOI  :  10.17650/2222-8721-2015-1-25-34

来源: DOAJ

【 摘 要 】

The Russian literature gives inadequate attention to the problem of one of the most common form of autosomal recessive progressive limb-girdle muscular dystrophies type 2A (LGMD2A) (calpainopathy). This paper highlights current views on the physiological role of calpain 3 protein, possible pathogenetic mechanisms for the development of myodystrophy, diagnostic criteria, and therapeutic approaches. Clinical neurologists» awareness of LGMD2A will be able to reduce the time to a correct diagnosis, to take measures to slow down the rate of disease progression, to make medical and genetic counselling, a follow-up, and monitoring, as well as to use measures for the physical and social adaptation of a patient. Key words: progressive limb-girdle muscular dystrophy, calpainopathy, calpain 3, inherited myopathy, creatinine phosphokinase, electromyography, muscle magnetic resonance imaging, genetic analysis, muscle biopsy, differential diagnosis.

【 授权许可】

Unknown