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Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

Lookup NU author(s): Libby Wood, Dr Chiara Marini Bettolo, Professor Michela GuglieriORCiD, Dr Grace McMacken, Dr Anna Mayhew, Robert Muni Lofra, Gail Eglon, Professor Volker StraubORCiD, Professor Hanns Lochmuller, Dr Teresinha Evangelista



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2017 The Author(s) Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients were assigned to two severity groups using CSS: mild (scores <3.5) and moderate/severely affected (scores ≥3.5). Forced Vital Capacity (FVC) was classified as severely impaired if less than 50% of the predicted. Statistical analysis was performed using IBM SPSS Statistics 23, tests were two-tailed and the level of significance set at 5%. Spirometry was available for 94 patients; 41.5% had abnormal results with a restrictive pattern in 38.3% patients. There was a correlation between FVC; CSS score and D4Z4 fragment length with a higher probability of severe respiratory involvement in the early onset group, moderate/severe disease and D4Z4 fragments <18 kb. Patients with severe respiratory involvement showed a high prevalence of sleep-disordered breathing. FVC decline over time was indicative of three progression groups. Respiratory involvement for both ambulant and non-ambulant patients with FSHD is more frequent and severe than previously suggested. Sleep-disordered breathing is frequent and negatively influences the respiratory status. Annual screening of the respiratory status with spirometry and clinical assessment is thus warranted in FSHD patients, even while ambulant.

Publication metadata

Author(s): Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmuller H, Evangelista T

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2017

Volume: 264

Issue: 6

Pages: 1271-1280

Print publication date: 01/06/2017

Online publication date: 26/05/2017

Acceptance date: 18/05/2017

Date deposited: 13/06/2017

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer International


DOI: 10.1007/s00415-017-8525-9


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