Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody

Abstract

A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case emphasizes the difficulty in differentiating mitochondrial cytopathy from myasthenia gravis and points out that elevated acetylcholine receptor antibody levels may occur in nonmyasthenic conditions.