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Restrictive lung involvement in facioscapulohumeral muscular dystrophy
Author(s) -
Scully Michele A.,
Eichinger Katy J.,
DonlinSmith Colleen M.,
Tawil Rabi,
Statland Jeffery M.
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24218
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , supine position , confidence interval , muscular dystrophy , duchenne muscular dystrophy , physical therapy , prospective cohort study , cohort
: 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. Muscle Nerve 50 : 739–743, 2014