Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)

M. D. Mohire, R. Tandan, T. J. Fries, B. W. Little, W. W. Pendlebury, W. G. Bradley

Research output: Contribution to journalArticle

45 Scopus citations

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 an 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'.

Original languageEnglish (US)
Pages (from-to)573-580
Number of pages8
JournalNeurology
Volume38
Issue number4
DOIs
StatePublished - Apr 1988

ASJC Scopus subject areas

  • Clinical Neurology

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