FSHD

Abstract

Neuromuscular Disorders 31 (2021) S47-S162 between baseline and follow up did not correlate with the change in clinical outcome measures. Fifteen patients had a deterioration of FVC of more than 10% predicted, the other 77 patients showed no significant change in FVC% predicted. This subgroup of 15 patients had higher FSHD severity scores, lower MMT sum scores and lower MFM scores at baseline. They more frequently developed spinal and thorax deformities at follow up and had a larger decline in MFM scores between baseline and follow up. During 5year follow up, respiratory function deteriorates slowly and a subgroup of FSHD patients had a more rapid deterioration. These patients were more severely affected at baseline, had spinal and thorax deformities and showed a relatively fast decline in motor function.