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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

Journal of Medical Case Reports 1/2014

Concurrence of myotonic dystrophy and epilepsy: a case report

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2014
Autor:
Dawit Kibru Worku
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-8-427) contains supplementary material, which is available to authorized users.

Competing interests

The author declares that he has no competing interests.

Abstract

Introduction

Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population.

Case presentation

A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for idiopathic generalized epilepsy for over 15 years. A needle electromyography showed insertional classic myotonic discharges. A nerve conduction study showed mild axonal sensorimotor polyneuropathy. His muscle biopsy showed marked increase of internalized nuclei, severely atrophic muscle fibers, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes, and a preferential atrophy of type I fibers.

Conclusion

This is a rare occurrence of two distinctive hereditary diseases.

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Authors’ original file for figure 2
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