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Case Reports in Neurological Medicine
Volume 2013, Article ID 125672, 3 pages
Case Report

A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline

1Department of Medicine, Bath Royal United Hospital, Bath BA1 3NG, UK
2Department of Neuropathology, Frenchay Hospital, Bristol BS16 1LE, UK
3Department of Neurological Rehabilitation, Frenchay Hospital, Bristol BS16 1LE, UK
4Department of Neuropsychology, Frenchay Hospital, Bristol BS16 1LE, UK

Received 22 February 2013; Accepted 24 March 2013

Academic Editors: Ö. Ateş, H. Kocaeli, N. S. Litofsky, V. Rajajee, and I. L. Simone

Copyright © 2013 D. Taylor et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.