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- Title
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy.
- Authors
Teeselink, Sjan; Vincenten, Sanne C. C.; Voermans, Nicol C.; Groothuis, Jan T.; Doorduin, Jonne; Wijkstra, Peter J.; Horlings, Corinne G. C.; van Engelen, Baziel G. M.; Mul, Karlien
- Abstract
Objective: To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD). Methods: Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years. Forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) were measured using hand-held spirometry with a face mask. Several clinical outcome measures were correlated to respiratory function. Results: Ninety-two patients were included (57% male, age 18–75 years). At baseline, the spirometry outcomes of 41 patients showed a restrictive ventilatory pattern (FVC < 80% and FEV1/FVC ≥ 70% of predicted) and of 48 patients at follow-up. The mean FVC decreased from baseline to follow-up from 79.0 to 76.7% predicted (p = 0.021). This decrease was driven by a subgroup of 15 patients who had a deterioration of FVC of > 10% predicted. The subgroup of 15 patients was more severely affected at baseline (p = 0.002 for FSHD clinical score and 0.007 for Ricci score). They developed more frequently spinal and thorax deformities (p < 0.001 for kyphoscoliosis and 0.012 for pectus excavatum) and had a larger decline in axial muscle function (p = 0.020). Only weak correlations were found between the change in FVC% predicted and the change in clinical scores between baseline and follow-up. Interpretation: Respiratory function remained stable in most patients with FSHD, but a subgroup of patients showed a pronounced deterioration. They showed more severe muscle weakness including the leg muscles at baseline (Ricci score ≥ 6), had spinal and thorax deformities and a relatively fast decline in axial muscle function at follow-up.
- Subjects
VITAL capacity (Respiration); PECTUS excavatum; SPINE abnormalities; MUSCLE weakness; FACIOSCAPULOHUMERAL muscular dystrophy; LEG muscles
- Publication
Journal of Neurology, 2022, Vol 269, Issue 7, p3682
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-022-10990-7