[article]
| Titre : |
Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
L. MRAZOVA, Auteur ; P. VONDRACEK, Auteur ; P. DANHOFER, Auteur ; J. PEJCOCHOVA, Auteur ; Z. JURIKOVA, Auteur ; T. HONZIK, Auteur ; J. ZAMECNIK, Auteur ; H. OSLEJSKOVA, Auteur |
| Article en page(s) : |
3 p. |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Duchene muscular dystrophy DMD Dystrophin Dystrophinopathy Neuromuscular disorders Epilepsy Autism Autism spectrum disorder |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://dx.doi.org/10.4172/2165-7890.1000162 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 |
in Autism - Open Access > 6-1 [01/01/2016] . - 3 p.
[article] Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism [Texte imprimé et/ou numérique] / L. MRAZOVA, Auteur ; P. VONDRACEK, Auteur ; P. DANHOFER, Auteur ; J. PEJCOCHOVA, Auteur ; Z. JURIKOVA, Auteur ; T. HONZIK, Auteur ; J. ZAMECNIK, Auteur ; H. OSLEJSKOVA, Auteur . - 3 p. Langues : Anglais ( eng) in Autism - Open Access > 6-1 [01/01/2016] . - 3 p.
| Mots-clés : |
Duchene muscular dystrophy DMD Dystrophin Dystrophinopathy Neuromuscular disorders Epilepsy Autism Autism spectrum disorder |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://dx.doi.org/10.4172/2165-7890.1000162 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 |
|
Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism in Autism - Open Access, 6-1 ([01/01/2016])
