Erroneous diagnosis corrected after 28 years. Not spinal muscular atrophy with ophthalmoplegia but minicore myopathy

P. H. Gordon, A. P. Hays, L. P. Rowland, D. J. Dickoff, D. L. Schotland, R. N. Rosenberg, D. E. Wolfe, D. J. Lange and R. E. Lovelace
Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY, USA.

OBJECTIVE: To correct, after 28 years, the previously reported diagnosis of ophthalmoplegia in a patient with presumed childhood spinal muscular atrophy. DESIGN: Clinical follow-up, laboratory, electrophysiologic, and muscle biopsy data are provided. RESULTS: The findings of clinical follow-up examination, electrophysiologic tests, and histologic examination 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 quantitative electromyography became widely available. Modern laboratory techniques later made the diagnosis of minicore myopathy possible. Progressive external ophthalmoplegia has been described in 24% of patients with minicore myopathy, but there have been only 7 reports of ophthalmoplegia with spinal muscular atrophy since 1954, and some of these diagnoses have been questioned.