Ep. 85: Phenotype Heterogeneity in Muscular Dystrophies

Show notes

Moderator: Federica Montagnese (Munich, Germany)

Guest: John Vissing (Copenhagen, Denmark)

In this week's episode, Federica Montagnese hosts Professor John Vissing as they delve into the intricate world of diagnosing muscular dystrophies. The discussion revolves around the crucial role of neuromuscular examinations and the significance of medical history, including school performance. Specific signs like myotonia and facial signs are explored, alongside the evolving landscape of genetic testing, advanced imaging techniques (MRI and ultrasound), and the potential of artificial intelligence in diagnostics. The speakers also touch on extra-muscular manifestations, expanding the understanding of these conditions.