RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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)
Synonyms:
exact_synonym:
Fukuhara Disease; Fukuhara Syndrome; MERRF; Merff Syndrome; Myoclonic Epilepsy Associated with Ragged Red Fibers; Myoclonic Epilepsy and Ragged Red Fibers; Myoclonic Epilepsy with Ragged Red Fibers; Myoclonus with Epilepsy with Ragged Red Fibers; Myoencephalopathy Ragged Red Fiber Disease; myoclonic epilepsy - ragged red fibers; myoclonus epilepsy and ragged red fibers; myoclonus with epilepsy and with ragged red fibers