From the Research
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) is a rare mitochondrial disorder characterized by myoclonic seizures, ataxia, muscle weakness, and neurological deterioration, caused by mutations in mitochondrial DNA, particularly the MT-TK gene encoding tRNA-lysine, and should be managed with anticonvulsants like levetiracetam, topiramate, or zonisamide, and supplements like coenzyme Q10, L-carnitine, and riboflavin to improve mitochondrial function and energy production, as recommended by recent studies 1, 2.
Key Features of MERRF
- Myoclonic seizures
- Ataxia
- Muscle weakness
- Neurological deterioration
- Caused by mutations in mitochondrial DNA, particularly the MT-TK gene encoding tRNA-lysine
Treatment of MERRF
- Anticonvulsants: levetiracetam, topiramate, zonisamide, piracetam, and benzodiazepines are recommended 1
- Supplements: coenzyme Q10, L-carnitine, and riboflavin may help improve mitochondrial function and energy production 3
- Physical therapy to maintain mobility and muscle strength
- Occupational therapy to assist with daily activities
- Genetic counseling for affected families since mitochondrial disorders are maternally inherited
Recent Studies
- A 2022 study found that rapamycin may be a promising therapeutic option for MERRF, as it can improve mitochondrial function and energy production 4
- A 2019 study recommended levetiracetam, topiramate, zonisamide, and piracetam as first-line antiepileptic drugs for the treatment of myoclonic epilepsy in MERRF syndrome 2
- A 2017 study emphasized the importance of avoiding mitochondrion-toxic agents, such as valproate, carbamazepine, and phenytoin, in the treatment of MERRF syndrome 1