Epilepsy and McArdle Disease in a Child

İNCECİK F., HERGUNER O. M., MERT G., BESEN S., KOR D., YILMAZ B., ...Daha Fazla

CUKUROVA MEDICAL JOURNAL, cilt.40, ss.5-7, 2015 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40
  • Basım Tarihi: 2015
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.5-7
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.