MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7087
Name:MERRF Syndrome
Definition:A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
Alternative IDs:
TreeNumbers:C05.651.460.620.530 |C10. |C10.228.140.490.250.650.700 |C10.668.491.500.500.550 |C16.320.565.189.545 |C18.452.132.100.545 |C18.452.648.189.545 |C18.452.660.560.620.530
Synonyms:Fukuhara Disease |Fukuhara Syndrome |MERRF |Myoclonic Epilepsy and Ragged Red Fibers |Myoclonic Epilepsy Associated with Ragged Red Fibers |Myoclonic Epilepsy Associated with Ragged-Red Fibers |Myoclonic Epilepsy with Ragged Red Fibers |Myoclonic Epilepsy with
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D017243
MeSH: D017243
Disease Causing ClinVar Variants
MSeqDR Portal