Myopathy of distal lower limbs: the clinical variant of Miyoshi

Arquivos de Neuro-Psiquiatria

Cristiane N. Soares¹  Marcos R.g. De Freitas¹  Osvaldo J.m. Nascimento²  Lenilda Ferreira Da Silva¹  Andréa R. De Freitas²  Lineu C. Werneck¹ 

[1] ,Universidade Federal Fluminense Hospital Universitário Antonio Pedro Departamento de NeurologiaNiterói,Brasil

关键词: distal muscular dystrophy;    myopathy;    Miyoshi myopathy;    dysferlin;    distrofia muscular distal;    miopatia;    miopatia de Miyoshi;    disferlina;   

DOI  :  10.1590/S0004-282X2003000600011

来源: SciELO

【 摘 要 】

Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles. Recently gene linkage to chromosome 2p12-14 has been established. We report three sisters, born of consanguineous parents. All of them noticed weakness and atrophy of leg muscles, and could not walk on their heels. In all of them the creatine kinase concentrations were very high. The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin. There are few cases reported of Miyoshi distal dystrophy in Latin America. The Miyoshi myopathy may be distinct among the hereditary distal myopathies.

【 授权许可】

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