Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. Despite […]
Progress toward the development of therapies for rare diseases is hampered by a limited biological understanding of most diseases and their progression and challenges in […]
Background The natural history of SMA is well understood with progressive muscle weakness resulting in declines in function. Limited joint range of motion (ROM) and […]
Regular physical activity (PA) has substantial health-related benefits and is associated with improved physical function in people with physical disabilities. Individuals with spinal muscular atrophy […]
Background: In July 2018, Spinal Muscular Atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) given the ability to screen for SMN1 exon […]
OBJECTIVE: To compare clinical outcomes in Duchenne muscular dystrophy (DMD) by steroid type within subgroups defined by baseline age, ambulatory function, and steroid duration. BACKGROUND: […]
BACKGROUND/OBJECTIVE: Corticosteroids are the standard of care for treatment of DMD. This study compared ages at disease progression milestones between patients on daily regimens of […]
Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease with minimal treatment options and short survival time for patients beyond symptom onset. Early disease pathogenesis […]
Background Degeneration of motor neurons, glial cell reactivity, and vascular alterations in the CNS are important neuropathological features of amyotrophic lateral sclerosis (ALS). Immune cells […]