Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F16%3A00065593" target="_blank" >RIV/65269705:_____/16:00065593 - isvavai.cz</a>
Výsledek na webu
<a href="https://www.omicsgroup.org/journals/triple-trouble-a-case-report-of-an-unusual-combination-of-duchennemuscular-dystrophy-epilepsy-and-autism-2165-7890-1000162.php?aid=80455" target="_blank" >https://www.omicsgroup.org/journals/triple-trouble-a-case-report-of-an-unusual-combination-of-duchennemuscular-dystrophy-epilepsy-and-autism-2165-7890-1000162.php?aid=80455</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4172/2165-7890.1000162" target="_blank" >10.4172/2165-7890.1000162</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Triple Trouble: A Case Report of an Unusual Combination of Duchenne Muscular Dystrophy, Epilepsy, and Autism
Popis výsledku anglicky
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.
Klasifikace
Druh
O - Ostatní výsledky
CEP obor
FH - Neurologie, neurochirurgie, neurovědy
OECD FORD obor
—
Návaznosti výsledku
Projekt
—
Návaznosti
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Ostatní
Rok uplatnění
2016
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů