MERRF syndrome
| MERRF syndrome | |
|---|---|
 |
|
| "ragged red fibers" in MELAS syndrome | |
| Classification and external resources | |
| Specialty | neurology |
| ICD-10 | G31.8 |
| ICD-9-CM | 277.87 |
| OMIM | 545000 |
| DiseasesDB | 30794 |
| MeSH | D017243 |
| GeneReviews | |
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a . It is extremely rare, with an estimated prevalence of 1/400,000 in Northern Europe, and has varying degrees of expressivity owing to heteroplasmy.
It involves the following characteristics:
The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the in over 80% of cases. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.
Many genes are involved. These include:
Like many mitochondrial diseases, there is no cure for MERRF and treatment is primarily symptomatic. High doses of Coenzyme Q10 and L-Carnitine have been tried with little success as therapies in hopes of improving mitochondrial function.
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