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

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.

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