Respiratory chain complexes defects: Complex IV . Myoclonic epilepsy with ragged-red fibers syndrome (MERRF).
Incidence
rare. Tend to have a positive family history. Maternal inheritance. No cases reported in Saidi Arabia.
Clinical Characteristics
MYOCLONIC SEIZURES, action myoclonus and ataxia are the main and usual first manifestation of the condition. Also short stature, dementia, deafness, weakness, myopathy,There is increased CSF protein. Muscle biopsy: ragged red fibres (RRF). There is spongy degeneration of the brain. 100% abn EEG. There is lactic acidosis.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
DB-muscle