Exertional Weakness Seen as An Important Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy

Abstract

Introduction: Duchenne Muscular Dystrophy is an X-linked recessive condition caused by dystrophin mutations. Case Presentation: Three unrelated women who were carrying a pathogenic dystrophin mutation were evaluated with clinical, laboratory, electrophysiological, and genetic testing. Discussion: These cases present a common clinical trend of exertional weakness demonstrated in female carriers of dystrophic mutations. Conclusion: Although males with dystrophin mutations get progressively weak with overt weakness, females with dystrophin mutations in our study exhibit more exertional weakness, which necessitates the need for including this mutation in the spectrum of differential for exertional weakness and fatigue. Highlights: Men with Duchenne Muscular Dystrophy, an x-linked recessive disease exhibits significant progressive weakness that leads to significant disability and eventually death. Women who are carriers for Duchenne Muscular Dystrophy exhibit more exertional weakness and fatigue