Third case of Duchenne muscular dystrophy and west syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype

Duchenne muscular Dystrophy (DMD) is an X-Linked neuromuscular disorder, and the most common muscular dystrophy with an incidence of 1:5000 males [1]. The clinical presentation starts between 3 and 5 years of age with gross motor delay, abnormal gait, frequent falls and difficulty rising from the floor and climbing stairs [2]. Increased creatine kinase (CK) levels 10 folds than normal values is a typical finding even before the onset of clinical symptoms. DMD is caused by mutations in the dystrophin gene leading to the absence of the dystrophin protein and the subsequent pathological cascade [1,2].

Source: Neuromuscular Disorders - February 9, 2021 Category: Neurology Authors: Christian Pe ña-Padilla, Ivon Romero-Valenzuela, Alejandra Baldomero-López, Ana Karen Sandoval-Talamantes, Abril Castellanos-Gonzalez, Peter L. Nagy, Rebecca R. Kelly, Jorge Roman Corona-Rivera Tags: Case Reports Source Type: research