Articles related to Neuromusculoskeletal Medicine & OMM

Whole-genome sequencing of nearly one million participants identified pathogenic DMPK repeat expansions more frequently than historical estimates of myotonic dystrophy type 1 prevalence, while linking expansion status with cardiac conduction disorders and early-onset cataracts.

Muscle ultrasound measurements obtained before and after exercise distinguished patients with generalized myasthenia gravis from healthy controls in a small case-control study, suggesting a potential imaging approach for assessing fatigability.

A 55-year-old man developed progressive weakness, areflexia, and respiratory compromise after a fall, despite spinal imaging that initially appeared to explain his presentation.

A Medicare-based analysis found substantial geographic variation in access to board-certified neuromuscular physicians for patients with myasthenia gravis, with specialist growth failing to fully offset regional disparities despite increases in both workforce size and disease prevalence.

PrimeC lowered neuron-derived TDP-43 levels in a Phase 2b ALS trial, with earlier analyses reporting functional and survival signals requiring confirmation in a planned pivotal study.

“We’ve published several editorials in this past year focused on a 1-year fellowship in a specialty that arguably needs way, way more time, more than 1 year. Are we doing our trainees or even our patients a disservice by continuing that 1-year construct, which is now solidly 30 years old?”