Impaired diaphragmatic motility in treatment‐naive adult patients with spinal muscular atrophy improved during nusinersen treatment

Introduction/Aims The leading clinical feature of 5q‐associated spinal muscular atrophy (SMA) is symmetric, proximal muscle weakness. Muscles involved in ventilation exhibit a specific pattern of denervation: intercostal muscles are severely atrophic, whereas the diaphragm muscle is less affected. T...

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