Concurrence of myotonic dystrophy and epilepsy: a case report

Journal of Medical Case Reports

Dawit Kibru Worku¹ 

[1] Department of Neurology, Addis Ababa University, Addis Ababa 29818, Ethiopia

关键词: Percussion myotonia;    Myotonic dystrophy;    Epilepsy;    Clinical hand grip;   

Others  :  1180926
DOI  :  10.1186/1752-1947-8-427

 received in 2014-10-03, accepted in 2014-11-11,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Worku; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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