Publication details

Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism

Authors

MRÁZOVÁ Lenka VONDRÁČEK Petr DANHOFER Pavlína PEJCOCHOVA J. JUŘÍKOVÁ Zuzana HONZIK T. ZAMECNIK J. OŠLEJŠKOVÁ Hana

Year of publication 2016
Type Article in Periodical
Magazine / Source Autism Open Access
MU Faculty or unit

Faculty of Medicine

Citation
Doi http://dx.doi.org/10.4172/2165-7890.1000162
Field Neurology, neurosurgery, neurosciences
Keywords Duchene muscular dystrophy; DMD; Dystrophin; Dystrophinopathy; Neuromuscular disorders; Epilepsy; Autism; Autism spectrum disorders
Description We present a 4 year-old boy with an unusual combination of an inherited neuromuscular disorder-Duchenne muscular dystrophy, epilepsy and autism. The patient underwent an extensive clinical, biochemistry, molecular genetics, electrophysiological, and psychological examinations. We discuss a role of dystrophin expression and deficiency in both muscle and brain tissues in the pathophysiology of these disorders. An association between Duchenne muscular dystrophy and autism spectrum disorders has already been described, but this unusual phenotype, including DMD, epilepsy, and autism, has not been reported as yet. We postulate that this “triple trouble” is not a coincidence, but more likely a result of the same underlying process–the dystrophin deficiency.

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