MERRF syndrome
ICD-10 Code
E88.42
MERRF syndrome
Definition
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
Also known as Fukuhara syndrome, MERRF, MERRF syndrome, myoclonic epilepsy - ragged red fibres, myoclonus epilepsy and ragged red fibres, myoclonus epilepsy associated with ragged-red fibers, myoclonus epilepsy associated with ragged-red fibres, myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome), myoclonus with epilepsy and with ragged Red fibres, myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome) — per MONDO