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A diagnostic tattoo

Lookup NU author(s): Dr Roger Whittaker, Professor Doug Turnbull

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Abstract

The hallmarks of the myoclonic epilepsy with ragged red fibers (MERRF) syndrome are myoclonic epilepsy, ataxia and ragged red fibres detected on muscle biopsy. We present a case of a 25-year-old male who first presented to his general practitioner at the age of 22 years with myoclonic jerks affecting the arms and legs, fatigue and mild ataxia. He was found to carry an A > G transition at nucleotide 8344 in mitochondrial DNA. This mutation is the most common cause of the MERRF syndrome, found in more than 80% of affected patients. Our patient had the diagnosis tattooed on his arm, both out of frustration at how few people had heard of it, and as a way of accepting that his condition was a part of who he was. Although the MERRF syndrome is one of the more common forms of mitochondrial encephalomyopathy, with a prevalence estimated at between 0.25 and 0.39 per 100,000, it is still a rare disorder. We are always striving to increase the public's understanding of these important conditions. Our patient has perhaps helped more than most towards this aspiration.


Publication metadata

Author(s): Whittaker RG, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Clinical Genetics

Year: 2009

Volume: 75

Issue: 1

Pages: 37-38

ISSN (print): 0009-9163

ISSN (electronic): 1399-0004

Publisher: Wiley-Blackwell Munksgaard

URL: http://dx.doi.org/10.1111/j.1399-0004.2008.01103.x

DOI: 10.1111/j.1399-0004.2008.01103.x


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