MERRF syndrome
true
SNOMEDCT_US_2018_03_01:68448003
ICD10CM:E88.42
MTHICD9_2006:277.87
Myoclonic epilepsy - ragged red fibers
NCI:C84889
Myoclonic epilepsy with ragged red fibres
UMLS_CUI:C0162672
OMIM:545000
OMIM mapping confirmed by DO. [SN].
DOID:310
Fukuhara syndrome
Myoclonus with epilepsy and with Ragged Red Fibers
MERRF (myoclonic epilepsy with ragged red fibres) presents in the second decade or later, as progressive myoclonus epilepsy with typical EEG findings of giant somatosensory potentials and photosensitivity. Clinically, patients show prominent myoclonic seizures as well as other seizure types.
MESH:D017243
disease_ontology
Myoclonus epilepsy AND ragged red fibers
SNOMEDCT_US_2018_03_01:57254004
mitochondrial disease