Abstract
<jats:p>NTRODUCTION: Progressive muscular dystrophy (PMD) is a rare genetic disorder reluctant to correction. Currently, 31 genetic variants of limb-girdle muscular dystrophy (LGMD) that occur after the normal motor development due to mutations in genes localized on autosomes, and 3 genetic variants of the disorder with X-linked recessive transmission pattern, have been described. Due to the genetic heterogeneity of the pathology, LGMD is diagnosed in both men and women. The cause of LGMD type 2A (LGMD2A) is mutations in the calpain 3 gene (CAPN3), mapped on 15q15.1-q21.1 chromosome. Currently, the major challenge is not the diagnosis, but rather the organization of a multidisciplinary approach to patent treatment. A clinical case of a female patient with PMD, LGMD type 2A, is presented. The diagnosis was made promptly and confirmed genetically (mutation c.550delA). For many years, the patient has regularly been undergoing planned inpatient treatment in neurology departments and medical rehabilitation units, allowing her to maintain satisfactory physical activity. CONCLUSION: PMD is a rare genetic disorder with an extensive genetic polymorphism. Given the absence of specific therapy modifying the course of the disease, it should be remembered that the main goal of treatment of patients with PMD is to maintain their mobility, functional independence, and reduce manifestations of limitations of life activity. Such results can only be achieved with a multidisciplinary approach to patient management and creation of rehabilitation teams including neurologists, therapists, cardiologists, orthopedists, psychologists, occupational therapists and physical rehabilitation specialists.</jats:p>