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. 2014 Nov;50(5):739-43.
doi: 10.1002/mus.24218. Epub 2014 Sep 29.

Restrictive lung involvement in facioscapulohumeral muscular dystrophy

Michele A Scully  1 , Katy J Eichinger, Colleen M Donlin-Smith, Rabi Tawil, Jeffery M Statland
Affiliations

Restrictive lung involvement in facioscapulohumeral muscular dystrophy

Michele A Scully et al. Muscle Nerve. 2014 Nov.

Abstract

Introduction: Few studies have evaluated the frequency or predisposing factors for respiratory involvement in facioscapulohumeral muscular dystrophy type 1 (FSHD1) and type 2 (FSHD2).

Methods: We performed a prospective cross-sectional observational study of 61 genetically confirmed FSHD participants (53 FSHD1 and 8 FSHD2). Participants underwent bedside pulmonary function testing in sitting and supine positions, a standard clinical history and physical assessment, and manual muscle testing.

Results: Restrictive respiratory involvement was suggested in 9.8% (95% confidence interval 2.4-17.3): 7.5% FSHD1 and 25.0% FSHD2 (P = 0.17). Participants with testing suggestive of restrictive lung involvement (n = 6) were more severely affected (P = 0.005), had weaker hip flexion (P = 0.0007), and were more likely to use a wheelchair (P = 0.01).

Conclusions: Restrictive respiratory involvement should be considered in all moderate to severely affected FSHD patients with proximal lower extremity weakness. The higher frequency of restrictive lung disease in FSHD2 seen here requires confirmation in a larger cohort of FSHD2 patients.

Keywords: FSHD1; FSHD2; muscle disease; prevalence studies; respiratory disease.

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Figures

Figure 1
Figure 1
Plot of FVC versus FEV1/FVC percent predicted. Restrictive pattern was defined as an FVC < 80% predicted, and FVC/FEV1% predicted > 80%.
See this image and copyright information in PMC

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