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Autosomal dominant limb‐girdle muscular dystrophy with ankle joint contracture
Author(s) -
Tanaka K.,
Yamada T.,
Kikuchi H.,
Mitsunaga Y.,
Furuya H.,
Kira J.
Publication year - 1999
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1999.tb00739.x
Subject(s) - limb girdle muscular dystrophy , medicine , ankle , muscular dystrophy , contracture , physical medicine and rehabilitation , shoulder girdle , weakness , muscle contracture , creatine kinase , anatomy , phenotype , surgery , biology , genetics , gene
We herein describe a Japanese family suffering from autosomal dominant limb‐girdle muscular dystrophy showing a later onset and a predilection for males. All patients developed a plantar flexion contracture of the ankles when no distal muscular weakness was evident. The serum creatine kinase activity was remarkably elevated to 55 times the normal value. These clinical features suggest a novel phenotype.