ERRONEOUS DIAGNOSIS CORRECTED AFTER 28 YEARS - NOT SPINAL MUSCULAR-ATROPHY WITH OPHTHALMOPLEGIA BUT MINICORE MYOPATHY

Objective: To correct, after 28 years, the previously reported diagnos is of ophthalmoplegia in a patient with presumed childhood spinal musc ular atrophy. Design: Clinical follow-up, laboratory, electrophysiolog ic, and muscle biopsy data are provided. Results: The findings of clin ical follow-up examination, electrophysiologic tests, and histologic e xamination of muscle specimens led to a revised diagnosis of minicore myopathy. Conclusions: Spinal muscular atrophy was diagnosed in 1967, before histochemical techniques for examining muscle tissue and quanti tative electromyography became widely available. Modern laboratory tec hniques later made the diagnosis of minicore myopathy possible. Progre ssive external ophthalmoplegia has been described in 24% of patients w ith minicore myopathy, but there have been only 7 reports of ophthalmo plegia with spinal muscular atrophy since 1954, and some of these diag noses have been questioned.