Abstract:
: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. SDB was 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.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Della Marca G,Frusciante R,Dittoni S,Vollono C,Buccarella C,Iannaccone E,Rossi M,Scarano E,Pirronti T,Cianfoni A,Mazza S,Tonali PA,Ricci Edoi
10.1016/j.jns.2009.05.014subject
Has Abstractpub_date
2009-10-15 00:00:00pages
54-8issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(09)00609-1journal_volume
285pub_type
杂志文章abstract::A number of diseases exhibit neurodegeneration with/without additional symptoms such as immunodeficiency, increased cancer risk, and microcephalus. Ataxia telangiectasia and Nijmegen breakage syndrome, for example, develop as a result of mutations in genes involved in the DNA damage response. However, such diseases ca...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.02.033
更新日期:2014-05-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2009.02.335
更新日期:2009-08-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00280-2
更新日期:1995-05-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2017-01-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,随机对照试验
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更新日期:2013-01-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00312-p
更新日期:1996-03-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90008-6
更新日期:1994-06-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/0022-510x(90)90225-c
更新日期:1990-07-01 00:00:00
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更新日期:2020-09-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1990-12-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.12.011
更新日期:2015-01-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(79)90174-6
更新日期:1979-08-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(94)90325-5
更新日期:1994-07-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2021-01-07 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(98)00081-1
更新日期:1998-04-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90265-8
更新日期:1994-11-01 00:00:00
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pub_type: 杂志文章
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2007-12-15 00:00:00
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journal_title:Journal of the neurological sciences
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更新日期:2017-06-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.11.026
更新日期:2014-02-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1994-08-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.03.014
更新日期:2019-05-15 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.jns.2019.116635
更新日期:2020-02-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2018.02.026
更新日期:2018-04-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
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更新日期:1999-10-31 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.03.007
更新日期:2014-05-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.12.010
更新日期:2007-03-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00650-5
更新日期:2002-01-15 00:00:00