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MERRF Syndrome

Abstract

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NORD is very grateful to Salvatore DiMauro, MD, Lucy G. Moses Professor of Neurology, Columbia University Medical Center, for assistance in the preparation of this report.

Synonyms of MERRF Syndrome

  • Fukuhara syndrome
  • MERRF
  • myoclonus epilepsy associated with ragged red fibers
  • myoencephalopathy ragged-red fiber disease

Disorder Subdivisions

  • No subdivisions found.

General Discussion

MERRF (Myoclonus Epilepsy with Ragged-Red Fibers) syndrome is an extremely rare disorder that begins in childhood and affects the nervous system and skeletal muscle as well as other body systems. The distinguishing feature in MERRF is myoclonus, consisting of sudden, brief, jerking spasms that can affect the arms and legs or the entire body. In addition, individuals with MERRF syndrome may have muscle weakness (myopathy), an impaired ability to coordinate movements (ataxia), seizures, and a slow deterioration of intellectual function (dementia). Short stature, degeneration of the optic nerve (optic atrophy), hearing loss, cardiomyopathy and abnormal sensation from nerve damage (peripheral neuropathy) are also common symptoms. Abnormal muscle cells are present and appear as ragged red fibers (RRF) when stained with the modified Gomori trichrome and viewed microscopically. MERRF is caused by mutations in mitochondrial DNA (mtDNA).

MERRF Syndrome Resources

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