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Muscle Fiber-Type DisproportionReport of a Family With Symptomatic and Asymptomatic Members
Toomas Eisler, MB;
Jacob H. Wilson, MD
Arch Neurol. 1978;35(12):823-826.
Abstract
• Two members of a family have slowly progressing proximal muscle weakness starting from ages 2 and 6 years. Muscle biopsy specimens from these patients, as well as two other asymptomatic members of the same family, demonstrate predominance of type I fibers (without fiber-type grouping) and minimally enlarged type II fibers. In all four cases there was an increase in serum creatine phosphokinase levels, but electromyographic studies were normal.
To our knowledge, this family represents a previously undescribed syndrome of type I muscle fiber predominance without a history of "floppy" babies and includes asymptomatic members with similar pathologic changes.
Author Affiliations
From the Department of Neurology, University of Oregon Health Sciences Center, and the Good Samaritan Hospital and Medical Center, Portland. Dr Eisler is now with the National Institutes of Health, Bethesda, Md.
Footnotes
Accepted for publication Feb 13, 1978.
Reprint requests to National Institutes of Health, Building 10, Room 2D11, Bethesda, MD 20014 (Dr Eisler).
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