Muscular dystrophies are a wide range of muscle disorders related to the congenital or genetically determined absence of certain essential muscle fiber components (e.g., dystrophin). In most patients, ...
Posters presented at the 2025 Muscular Dystrophy Association Clinical & Scientific Conference highlight the complex care ...
The study is published in Stem Cell Research & Therapy. Ullrich congenital muscular dystrophy (UCMD) is an early-onset, progressive muscular disease characterized by muscle weakness and joint ...
Learning from examples like congenital heart disease and cystic fibrosis can help health systems and clinicians prepare to care for an influx of patients with neuromuscular diseases as they reach ...
We report on a preterm neonate of 30 weeks gestational age who presented with marked muscular hypotonia ... at birth and was diagnosed with congenital myotonic dystrophy. Neuroimaging at 36 ...