Myopathy of distal lower limbs: the clinical variant of Miyoshi.
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.
Soares
Cristiane N
CN
Departamento de Neurologia, Hospital Universitário Antonio Pedro, Universidade Federal Fluminense, Niterói, Brasil. mendoncapereira@uol.com.br
de Freitas
Marcos R G
MR
Nascimento
Osvaldo J M
OJ
da Silva
Lenilda Ferreira
LF
de Freitas
Andréa R
AR
Werneck
Lineu C
LC
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001284:Atrophy; D001706:Biopsy; D003241:Consanguinity; D000073939:Dysferlin; D004576:Electromyography; D005260:Female; D006801:Humans; D007866:Leg; D008565:Membrane Proteins / Q000378:metabolism; D009124:Muscle Proteins / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D035781:Siblings
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins