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

J 2016

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

MRÁZOVÁ, Lenka, Petr VONDRÁČEK, Pavlína DANHOFER, J. PEJCOCHOVA, Zuzana JUŘÍKOVÁ et. al.

Základní údaje

Originální název

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

Autoři

MRÁZOVÁ, Lenka (203 Česká republika, garant, domácí), Petr VONDRÁČEK (203 Česká republika, domácí), Pavlína DANHOFER (203 Česká republika, domácí), J. PEJCOCHOVA (203 Česká republika), Zuzana JUŘÍKOVÁ (203 Česká republika, domácí), T. HONZIK (203 Česká republika), J. ZAMECNIK (203 Česká republika) a Hana OŠLEJŠKOVÁ (203 Česká republika, domácí)

Vydání

Autism Open Access, Los Angeles, OMICS Publishing Group, 2016, 2165-7890

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30000 3. Medical and Health Sciences

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Kód RIV

RIV/00216224:14110/16:00091158

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.4172/2165-7890.1000162

Klíčová slova anglicky

Duchene muscular dystrophy; DMD; Dystrophin; Dystrophinopathy; Neuromuscular disorders; Epilepsy; Autism; Autism spectrum disorders

Štítky

EL OK

Změněno: 10. 10. 2016 16:12, Soňa Böhmová

Anotace

V originále

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.

Citovat

MRÁZOVÁ, Lenka, Petr VONDRÁČEK, Pavlína DANHOFER, J. PEJCOCHOVA, Zuzana JUŘÍKOVÁ, T. HONZIK, J. ZAMECNIK a 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, roč. 6, č. 1, s. "nestránkováno", 3 s. ISSN 2165-7890. Dostupné z: https://dx.doi.org/10.4172/2165-7890.1000162.

@article{1356538,
   author = {Mrázová, Lenka and Vondráček, Petr and Danhofer, Pavlína and Pejcochova, J. and Juříková, Zuzana and Honzik, T. and Zamecnik, J. and Ošlejšková, Hana},
   article_location = {Los Angeles},
   article_number = {1},
   doi = {http://dx.doi.org/10.4172/2165-7890.1000162},
   keywords = {Duchene muscular dystrophy; DMD; Dystrophin; Dystrophinopathy; Neuromuscular disorders; Epilepsy; Autism; Autism spectrum disorders},
   language = {eng},
   issn = {2165-7890},
   journal = {Autism Open Access},
   title = {Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism},
   volume = {6},
   year = {2016}
}

TY  - JOUR
ID  - 1356538
AU  - Mrázová, Lenka - Vondráček, Petr - Danhofer, Pavlína - Pejcochova, J. - Juříková, Zuzana - Honzik, T. - Zamecnik, J. - Ošlejšková, Hana
PY  - 2016
TI  - Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism
JF  - Autism Open Access
VL  - 6
IS  - 1
SP  - "nestránkováno"
EP  - "nestránkováno"
PB  - OMICS Publishing Group
SN  - 21657890
KW  - Duchene muscular dystrophy
KW  - DMD
KW  - Dystrophin
KW  - Dystrophinopathy
KW  - Neuromuscular disorders
KW  - Epilepsy
KW  - Autism
KW  - Autism spectrum disorders
N2  - 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.
ER  -

MRÁZOVÁ, Lenka, Petr VONDRÁČEK, Pavlína DANHOFER, J. PEJCOCHOVA, Zuzana JUŘÍKOVÁ, T. HONZIK, J. ZAMECNIK a Hana OŠLEJŠKOVÁ. Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism. \textit{Autism Open Access}. Los Angeles: OMICS Publishing Group, 2016, roč.~6, č.~1, s.~''nestránkováno'', 3 s. ISSN~2165-7890. Dostupné z: https://dx.doi.org/10.4172/2165-7890.1000162.

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