Epilepsy and McArdle Disease in A Child

Epilepsy and McArdle Disease in A Child

McArdle's disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise, along with easy fatigability and weakness af...

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Bibliographic Details
Main Authors: Faruk incecik, Ozlem M Herguner, Gulen Mert, seyda Besen, Deniz Kor, Berna S. Yilmaz, Neslihan O. Mungan, sakir Altunbasak
Format: Article
Language:English
Published: Cukurova University 2015-03-01
Series:Çukurova Üniversitesi Tıp Fakültesi Dergisi
Subjects:
McArdle's disease
Epilepsy
Coexistence
Online Access:http://www.scopemed.org/fulltextpdf.php?mno=174371
Description
Summary:McArdle's disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise, along with easy fatigability and weakness after exercise. Following prolonged exertion, contractures, rhabdomyolysis, and myoglobinuria may occur. Central nervous system symptoms have rarely been reported in McArdle disease. In this case report, a 13-year-old boy with epilepsy and McArdle's disease is presented. [Cukurova Med J 2015; 40(Suppl 1): 5-7]
ISSN:0250-5150

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