Neurology · Neurology / Mitochondrial disease; Epilepsy
MERRF syndrome
also: Myoclonic epilepsy with ragged red fibers
Maternally inherited mitochondrial encephalomyopathy with myoclonus and epilepsy.
- Specialty
- Neurology
- Subspecialty
- Neurology / Mitochondrial disease; Epilepsy
- Sex & age distribution
- Male: affected; Female: affected equally (maternal transmission); Children: yes, onset in childhood to early adulthood
- Gene(s) involved
- MT-TF, MT-TH, MT-TK, MT-TL1, MT-TP
- Alternative names & eponyms
- Myoclonic epilepsy with ragged red fibers
Etiology & mechanism
Mitochondrial tRNA-Lys variant impairs oxidative phosphorylation.
Gene(s) involved (5)
Symptoms & signs (8)
In plain terms, someone with MERRF syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Abetalipoproteinemia
ataxia, neuropathy
2 shared
Dravet syndrome
ataxia, myoclonus
2 shared
Hajdu–Cheney syndrome
hearing loss, short stature
2 shared
Hunter syndrome
hearing loss, short stature
2 shared
Kearns–Sayre syndrome
ataxia, short stature
2 shared
Marshall syndrome
hearing loss, short stature
2 shared
NARP syndrome
ataxia, neuropathy
2 shared
Opsoclonus–myoclonus syndrome
ataxia, myoclonus
2 shared
Perrault syndrome
ataxia, neuropathy
2 shared
Resistance to thyroid hormone
hearing loss, short stature
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