MERRF Syndrome

Definition

MERRF syndrome is a mitochondrial disease characterized by Myoclonic Epilepsy with Ragged-Red Fiber.

Symptoms

  • Myoclonic seizures
  • Ataxia
  • Muscle weakness
  • Hearing loss

Reasons

MT-TK and other mtDNA mutations.

Diagnosis

Muscle biopsy, genetic testing.

Treatment

Antiepileptics, coenzyme Q10.

Which Polyclinic Should You Apply To?

Metabolism Polyclinic

What to Do in an Emergency?

In case of status epilepticus, emergency services should be consulted.

This page is for general information purposes only.