TY - JOUR
T1 - Sleep disordered breathing in facioscapulohumeral muscular dystrophy.
AU - Della Marca, Giacomo
AU - Frusciante, Roberto
AU - Dittoni, Serena
AU - Vollono, Catello
AU - Buccarella, Cristina
AU - Iannaccone, Elisabetta
AU - Rossi, Monica
AU - Scarano, Emanuele
AU - Pirronti, Tommaso
AU - Cianfoni, Alessandro
AU - Mazza, Salvatore
AU - Tonali, Pietro Attilio
AU - Ricci, Enzo
PY - 2009
Y1 - 2009
N2 - Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7±12.3 years (range: 26 72). The diagnosis of FSHD was confirmed by genetic tests. All patients underwent medical and neurological evaluations, subjective evaluation of sleep and full-night laboratory-based polysomnography.
Twenty patients presented SDB: 13 presented obstructive apneas, four presented REM related oxygen
desaturations and three showed a mixed pattern. Three patients needed positive airways pressure. SDBwas not related to the severity of the disease. Body mass index, neck circumference and daytime sleepiness did not allow prediction of SDB. In conclusion, the results suggest a high prevalence of SDB in patients with FSHD. The presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the clinical assessment of FSHD.
AB - Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7±12.3 years (range: 26 72). The diagnosis of FSHD was confirmed by genetic tests. All patients underwent medical and neurological evaluations, subjective evaluation of sleep and full-night laboratory-based polysomnography.
Twenty patients presented SDB: 13 presented obstructive apneas, four presented REM related oxygen
desaturations and three showed a mixed pattern. Three patients needed positive airways pressure. SDBwas not related to the severity of the disease. Body mass index, neck circumference and daytime sleepiness did not allow prediction of SDB. In conclusion, the results suggest a high prevalence of SDB in patients with FSHD. The presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the clinical assessment of FSHD.
KW - Facioscapulohumeral muscular dystrophy
KW - sleep
KW - Facioscapulohumeral muscular dystrophy
KW - sleep
UR - http://hdl.handle.net/10807/4744
U2 - 10.1016/j.jns.2009.05.014
DO - 10.1016/j.jns.2009.05.014
M3 - Article
SN - 0022-510X
VL - 285
SP - 54
EP - 58
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
ER -