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Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento

versão impressa ISSN 1519-0307versão On-line ISSN 1809-4139


ANEQUINIA, Isabela Pessa et al. Dysferlinopathies: critical review to guide the therapeutic approaches. Cad. Pós-Grad. Distúrb. Desenvolv. [online]. 2017, vol.17, n.2, pp. 65-78. ISSN 1519-0307.

Dysferlinopathies are neuromuscular diseases of autosomal recessive inheritance caused by the alteration in the protein dysferline, present in the muscular membrane. The phenotypes are Miyoshi myopathy and limb-girdle muscular dystrophy type 2B, this being the second in frequency in several countries. The studies are broad, but do not contemplate aspects that allow a critical and wide analysis on the functionality and therapeutic intervention. Critical bibliographic review of the literature for the elucidation and orientation of the physiotherapeutic treatment, with search in the database Medline-PubMed, US National Library of Medicine National - Institutes of Health, using combinations of the key words. Inclusion criteria: English, Portuguese and Spanish, articles of clinical trial and review, with humans, from 2006 to 2016. Exclusion criteria: absence of citation of characteristics of dysferlinopathies and other languages. We found 82 articles, of which 20 were repeated and 5 were excluded, leaving 57 articles on the topic. The results were divided into: definition, pathophysiology, diagnosis, epidemiology, clinical-functional and treatment. The clinical of muscle weakness is not correlated with functional findings. The results allow elucidating the clinical of dysferlinopathies, providing relevant information to guide health professionals in the elaboration of evaluation and treatment protocols.

Palavras-chave : muscular dystrophies; limb-girdle; muscular dystrophies; muscular diseases; distal myopathies; rehabilitation; physiotherapy; physical therapy specialty; physical therapy modalities.

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