Myoclonus epilepsy with ragged-red fibers
Myoclonus epilepsy with ragged-red fibers (MERRF) is a multisystem mitochondrial disorder defined by myoclonus, generalized epilepsy, ataxia, and myopathy with ragged-red fibers detected in muscle biopsy. MERRF patients often have sensorineural hearing loss, cognitive impairment, multiple lipomatosis, peripheral neuropathy, exercise intolerance, ptosis, ophthalmoparesis, optic atrophy, cardiomyopathy, muscle wasting, respiratory impairment, diabetes, muscle pain, tremor, and migraine.
Jun. 10, 2021