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MERRF syndrome
1 OMIM reference -
10 associated genes
10 connected diseases
11 signs/symptoms
Disease Type of connection
MELAS syndrome
Maternally-inherited Leigh syndrome
Leber hereditary optic neuropathy
Sporadic Leigh syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Distal myopathy with posterior leg and anterior hand involvement
Early infantile epileptic encephalopathy
LIG4 syndrome
Muscle filaminopathy
Omenn syndrome
Synonym(s):
- Fukuhara syndrome
- Myoclonus epilepsy associated with ragged-red fibers
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: mitochondrial inheritance
External references:
1 OMIM reference -
1 MeSH reference: D017243
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Ataxia / incoordination / trouble of the equilibrium
- Movement disorder
- Myopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Xanthomas / lipomas

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism

Occasional
- Optic nerve anomaly / optic atrophy / anomaly of the papilla