AI Summary & Key Takeaways
AI InsightWe report an atypical case of Mc Ardle's disease in which fatigability was the only subjective complaint.
📌 3 Key Takeaways
Abstract
Atypical form of Mc Ardle's disease: case reportAs an uncommon autosomal recessive metabolic disorder, Mc Ardle's disease is characterized by exercise intolerance with its onset in childhood. Disease typically presents with myalgia, cramps, elevated creatine kinase levels following exercise and 'Second Wind Phenomenon'. Ischemic forearm exercise test reveals a state of deficient glycogenolysis. The disease phenotypically exhibits clinical heterogeneity. There are atypical forms of Mc Ardle's disease as well as classical forms. We report an atypical case of Mc Ardle's disease in which fatigability was the only subjective complaint.
Özet
Mc Ardle's hastalığı ender görülen, çocukluk çağında başlayan, egzersiz intoleransı ile karakterize otozomal resesif , metabolik bir hastalıktır. Tipik olarak; egzersizi izleyen miyalji, kramplar, yüksek kreatin kinaz düzeyleri ve 'ikinci dalga fenomeni' ile ortaya çıkar. İskemik önkol egzersiz testi glikojenolizis eksikliğini ortaya çıkarır. Hastalık fenotipik olarak klinik farklılıklar gösterir. Klasik bulgularla seyreden tipler dışında atipik formlar da tanımlanmıştır. Biz de burada kronik yorgunluk gibi subjektif yakınmalarla seyreden atipik bir Mc Ardle olgusı sunduk.