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myoclonic epilepsy with ragged-red fibers (MERRF) syndrome

Epidemiology: - prevalence in the general population of Europe has been estimated at 0.9 in 100,000 individuals, but the disease seems to be more common in the USA - patients usually present during adolescence or early adulthood Pathology: - mitochondrial encephalomyopathy (red muscle pathology) Genetics: - associated with defects in MT-ND5 - associated with defects in MT-TL1 Clinical manifestations: - myoclonic seizures - may present with neurosensory deafness, optic atrophy, short stature, or peripheral neuropathy Laboratory: - MT-ND5 gene mutation - MT-TL1 gene mutation Management: 1) specific treatment not available 2) limited success in some clinical trials with a) Coenzyme Q10 b) riboflavin c) vitamin C d) vitamin K

Interactions

disease interactions

Related

MERRF gene mutation

General

epilepsy lipid metabolism, inborn error; lipid storage disease; lipidosis metabolic brain disease mitochondrial encephalomyopathy

References

  1. Cotran et al Robbins Pathologic Basis of Disease, 5th ed. W.B. Saunders Co, Philadelphia, PA 1994 pg 1339
  2. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998