Premium
A unique case of reducing body myopathy
Author(s) -
Nomizu Simone,
Person Donald A.,
Saito Coswin,
Lockett L. John
Publication year - 1992
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880150408
Subject(s) - myopathy , medicine , physical medicine and rehabilitation , neuroscience , biology
The clinical, electromyographic, and histologic characteristics of a 17‐year‐old girl with reducing body myopathy are described. She is, to our knowledge, the oldest reported case and the only patient described with severe mitral valve prolapse and scoliosis. Electromyography demonstrated spontaneous positive sharp waves and fibrillation potentials with many lowamplitude, short, polyphasic motor unit potentials. The right deltoid muscle was chaacterized by focal areas with large fibers associated with increased endomysial connective tissue and “split” fibers. Purple‐gray sarcoplasmic masses stained with trichrome were PAS‐negative, appeared as “empty” spaces with both ATPase and NADH‐TR, and stained darkly with menadione NBT. The features described expand the clinical presentation of this myopathy, and may lead to a better understanding of its etiology.