Quantitative Assessment of Dysphagia in Spinal Muscle Atrophy (SMA) - DYS-SMA Trial
The major aim of this project is to assess comprehensively frequency and extent of dysphagia and bulbar dysfunction in SMA1, 2, and 3 patients by applying FEES and validated dysphagia scores. Further aims are to follow changes of dysphagia over time in newly diagnosed patients, and in subjects starting treatment with one of the new therapeutic SMA drugs. Special attention will be paid to subjects treated with Risdiplam. If applicable, the data will be compared between groups receiving different drugs.
⁃ All patients with genetically determined 5q-linked SMA followed at the neuromuscular center Gießen
• Informed and written consent signed by the patient or a legal guardian