Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy).
Publication/Presentation Date
4-1-1988
Abstract
We report a large French-Canadian kindred with 33 affected members in six generations showing early-onset autosomal dominant limb-girdle myopathy and contractures. This myopathy is unique because of its benign course, with many members only minimally impaired even in old age. Examination of affected members revealed mild to moderate proximal weakness and wasting. Contractures were observed at the elbows and ankles in all, while in some they were more widespread. Serum CK was either normal or slightly raised, and electrodiagnostic studies suggested a primary myopathy. Muscle biopsy revealed nonspecific features of a myopathy without fiber necrosis or regeneration. Cardiac involvement was absent clinically in all patients and at autopsy in two affected individuals. The similarities between four previously reported families and our own establishes this myopathy as a distinct clinicogenetic entity, for which we propose the name "Bethlem myopathy."
Volume
38
Issue
4
First Page
573
Last Page
580
ISSN
0028-3878
Published In/Presented At
Mohire, M. D., Tandan, R., Fries, T. J., Little, B. W., Pendlebury, W. W., & Bradley, W. G. (1988). Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). Neurology, 38(4), 573–580. https://doi.org/10.1212/wnl.38.4.573
Disciplines
Medicine and Health Sciences
PubMedID
3352914
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article