Background: Mutations in the Presenilin 1 (PSEN1) gene are the most common causes of familial Alzheimer’s disease. Although cognitive symptoms are most common, some patients […]
Objective: Evaluate the motor development of infants with spinal muscular atrophy (SMA) identified by newborn screening (NBS) and treated with a disease modifying drug before […]
Cure SMA, a patient advocacy organization that provides support and funding for care and treatment of spinal muscular atrophy (SMA), maintains a membership database that […]
Background: Telemedicine may increase access to clinical care and research, particularly for mobility-limited communities. Enhanced insight on community exposure and attitudes towards telemedicine may help […]
Background: SMA is a devastating autosomal recessive neuromuscular disorder characterized by progressive skeletal and respiratory muscle weakness leading to early childhood death. SMA is caused […]
Background: Radicava® (edaravone injection) is a US FDA-approved treatment for amyotrophic lateral sclerosis (ALS), shown to slow the rate of physical functional decline. The ongoing, […]
Background: Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy type 1, resulting in both cognitive and motor development delays. Motor function […]
Background: Peptide-conjugated PMOs (PPMOs) are a next-generation chemistry platform in which a cell-penetrating peptide is conjugated to the PMO backbone, with the goal of increasing […]
Background: The benefits of corticosteroids in Duchenne Muscular Dystrophy (DMD) are well established and treatment should be considered for all patients diagnosed with DMD, according […]