MRÁZOVÁ, Lenka, Petr VONDRÁČEK, Pavlína DANHOFER, J. PEJCOCHOVA, Zuzana JUŘÍKOVÁ, T. HONZIK, J. ZAMECNIK and Hana OŠLEJŠKOVÁ. Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism. Autism Open Access. Los Angeles: OMICS Publishing Group, 2016, vol. 6, No 1, p. "nestránkováno", 3 pp. ISSN 2165-7890. Available from: https://dx.doi.org/10.4172/2165-7890.1000162.
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Basic information
Original name Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism
Authors MRÁZOVÁ, Lenka (203 Czech Republic, guarantor, belonging to the institution), Petr VONDRÁČEK (203 Czech Republic, belonging to the institution), Pavlína DANHOFER (203 Czech Republic, belonging to the institution), J. PEJCOCHOVA (203 Czech Republic), Zuzana JUŘÍKOVÁ (203 Czech Republic, belonging to the institution), T. HONZIK (203 Czech Republic), J. ZAMECNIK (203 Czech Republic) and Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution).
Edition Autism Open Access, Los Angeles, OMICS Publishing Group, 2016, 2165-7890.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30000 3. Medical and Health Sciences
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
RIV identification code RIV/00216224:14110/16:00091158
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.4172/2165-7890.1000162
Keywords in English Duchene muscular dystrophy; DMD; Dystrophin; Dystrophinopathy; Neuromuscular disorders; Epilepsy; Autism; Autism spectrum disorders
Tags EL OK
Changed by Changed by: Soňa Böhmová, učo 232884. Changed: 10/10/2016 16:12.
Abstract
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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