Background: Eteplirsen is indicated for treatment of exon 51 skip-amenable patients with Duchenne muscular dystrophy (DMD). Previous studies in patients >4 years of age indicate […]
Background: Pompe disease is a rare lysosomal storage disorder characterized by progressive loss of muscle/respiratory function due to acid α-glucosidase (GAA) deficiency. Cipaglucosidase alfa/miglustat is […]
Background: Significant therapeutic advancements have been made in Duchenne Muscular Dystrophy. Becker Muscular Dystrophy (BMD), however, is understudied and underserved. This discordance is explained in […]
Background: Eteplirsen is indicated for treatment of exon 51 skip-amenable patients with Duchenne muscular dystrophy (DMD). Previous studies in patients >4 years of age indicate […]
Background. There are currently no effective treatments for amyotrophic lateral sclerosis (ALS), highlighting the importance of unraveling the mechanisms leading to motor neuron loss. One […]
Nutrition is an imperative aspect for the management of Duchenne and Becker Muscular Dystrophy (DBMD) but research on the role of parenting styles and how […]
Duchenne muscular dystrophy (DMD), the most prevalent form of muscular dystrophy, is an X-linked inherited lethal disease due to mutations in the DMD gene. Duplications […]
The North Star Ambulatory Assessment (NSAA) is a validated assessment that serves as an endpoint in multiple DMD clinical trials. Accurately predicting NSAA trajectories is […]
Background: North Star Ambulatory Assessment (NSAA) is used to measure functional performance in Duchenne Muscular Dystrophy (DMD). An evaluation of decline in skeletal muscle quality […]