Neurodiversity, Treatment Compliance and Survival in Adults with Duchenne Muscular Dystrophy: A Single-Centre Retrospective Cohort Review

Duchenne Muscular Dystrophy (DMD) is a progressive muscle-wasting disease caused by pathogenic mutations in the DMD gene [1]. These mutations lead to the absence of dystrophin in muscle, resulting in the neuromuscular, cardiac and respiratory features characteristic of the condition [2]. Dystrophin isoforms are also expressed in the brain, and altered production and expression of these proteins is thought to underly the neurocognitive manifestations of DMD [3]. Over the past decade, there has been an increasing awareness of the range of neurodevelopmental disorders seen in patients with DMD, and recent studies have sought to establish the prevalence of these disorders in both adult and paediatric populations [4,5].

Source: Neuromuscular Disorders - December 13, 2023 Category: Neurology Authors: Luca Nart, Mahalekshmi Desikan, Aleksandra Pietrusz, Konstantinos Savvatis, Ros Quinlivan Source Type: research