Myopathy of distal lower limbs: the clinical variant of Miyoshi

• Published in: Arquivos de neuro-psiquiatria Vol. 61; no. 4; pp. 946 - 949
• Main Authors: Soares, Cristiane N, de Freitas, Marcos R G, Nascimento, Osvaldo J M, da Silva, Lenilda Ferreira, de Freitas, Andréa R, Werneck, Lineu C
• Format: Journal Article
• Language: English; Portuguese
• Published: Brazil Academia Brasileira de Neurologia - ABNEURO 01.12.2003; Academia Brasileira de Neurologia (ABNEURO)
• Subjects: Adolescent; Adult; Age of Onset; Atrophy; Biopsy; Consanguinity; distal muscular dystrophy; Dysferlin; Electromyography; Female; Humans; Leg; Membrane Proteins - metabolism; Miyoshi myopathy; Muscle Proteins - metabolism; Muscular Dystrophies - genetics; Muscular Dystrophies - pathology; myopathy; NEUROSCIENCES; Phenotype; PSYCHIATRY; Siblings; disferlina; miopatia de Miyoshi; myopathy; dysferlin; Miyoshi myopathy; distrofia muscular distal; miopatia; distal muscular dystrophy
• ISSN: 0004-282X; 1678-4227; 0004-282X; 1678-4227
• DOI: 10.1590/S0004-282X2003000600011

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.