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Myoclonus Epilepsy with Ragged-Red Fibers (MERRF)

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Diagnosis and Management of Mitochondrial Disorders

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Abstract

MERRF (myoclonus epilepsy with ragged-red fibers) syndrome is defined by four established features: myoclonus, generalized epilepsy, ataxia, and myopathy with ragged-red fibers detected in muscle biopsy. Being a maternally inherited mitochondrial disorder, it is phenotypically heterogeneous, and clinical diagnosis must be multisystem, with particular attention to the nervous system and skeletal muscles. Laboratory tests can be helpful. MERRF is a genetically heterogeneous disease caused predominantly by several pathogenic variants in the mitochondrial DNA (mt-DNA); however, about 90% of mutations are related to mt-DNA tRNALys (MT-TK gene): 80% of MERRF patients harbor the transition mutation m.8344A>G, and 10% harbor m.8356T>C, m.8363G>A, or m.8361G>A variants. The pathogenesis of the disease is not completely understood. At now we have no specific therapy, but many drugs or cocktails of vitamins and cofactors may be used in the management of clinical manifestations.

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  1. Division of Medical Genetics and Neurogenetics, IRCCS Foundation National Neurological Institute “C. Besta”, Milan, Italy

    Costanza Lamperti

  2. Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

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  1. Costanza Lamperti
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  2. Michelangelo Mancuso
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  1. Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

  2. Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

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Lamperti, C., Mancuso, M. (2019). Myoclonus Epilepsy with Ragged-Red Fibers (MERRF). In: Mancuso, M., Klopstock, T. (eds) Diagnosis and Management of Mitochondrial Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-05517-2_6

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