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. 2017 Jun;264(6):1271-1280.
doi: 10.1007/s00415-017-8525-9. Epub 2017 May 26.

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

Sandra Moreira  1 , Libby Wood  2 , Debbie Smith  3 , Chiara Marini-Bettolo  2 , Michela Guglieri  2 , Grace McMacken  2 , Geraldine Bailey  2 , Anna Mayhew  2 , Robert Muni-Lofra  2 , Gail Eglon  2 , Maggie Williams  3 , Volker Straub  2 , Hanns Lochmüller  2 , Teresinha Evangelista  4
Affiliations

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

Sandra Moreira et al. J Neurol. 2017 Jun.

Abstract

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.

Keywords: Facioscapulohumeral dystrophy; Respiratory impairment; Restrictive lung function.

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Conflict of interest statement

Conflicts of interest

The authors whose names are listed certify that they have no affiliations with or involvement in any organization or entity with any financial or non-financial interest in the subject matter or materials discussed in this manuscript.

Ethical standards

All procedures performed were in accordance with the ethical standards of the institutional and national research committee. For this type of study (retrospective observational study) formal consent is not required.

Figures

Fig. 1
Fig. 1
Correlation between D4Z4 fragment size and a age of onset (r = 0.737, p = 0.01) and b Clinical Severity Scale scores (r = −0.838, p < 0.01), in patients with fragments up to 18 kb
Fig. 2
Fig. 2
a Correlation between CSS scores and FVC (r = −0.770, p = 0.03). b Correlation between D4Z4 fragment size and FVC (r = 0.745, p = 0.005), in patients with fragments up to 18 kb
Fig. 3
Fig. 3
FVC decline over time in patients who developed severe respiratory involvement (n = 10). Lines correspond to individual patient’s FVC regression lines. Full lines represent patients with a slower decline (type 1 progression, mean decline 1.6 ± 0.3%/year), spotted lines represent patients with a faster decline (type 2 progression, mean decline 4.8 ± 0.1%/year) and dashed line represents a single patient with an extremely fast decline (decline 12.1%/year)
See this image and copyright information in PMC

References

    1. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain J Neurol. 2009;132(Pt 11):3175–3186. doi: 10.1093/brain/awp236. - DOI - PMC - PubMed
    1. Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacharjee R, et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43(3–4):259–268. doi: 10.1159/000369343. - DOI - PubMed
    1. Sacconi S, Salviati L, Desnuelle C. Facioscapulohumeral muscular dystrophy. Biochem Biophys Acta. 2015;1852(4):607–614. - PubMed
    1. Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine. Neurology. 2015;85(4):357–364. doi: 10.1212/WNL.0000000000001783. - DOI - PMC - PubMed
    1. Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, et al. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016;263(7):1401–1408. doi: 10.1007/s00415-016-8132-1. - DOI - PMC - PubMed

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