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  • 标题:Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
  • 本地全文:下载
  • 作者:Karen T. Nozoe ; Ricardo T. Akamine ; Diego R. Mazzotti
  • 期刊名称:Sleep Science
  • 印刷版ISSN:1984-0659
  • 电子版ISSN:1984-0063
  • 出版年度:2016
  • 卷号:9
  • 期号:3
  • 页码:129-133
  • DOI:10.1016/j.slsci.2016.07.004
  • 出版社:Brazilian Association of Sleep and Latin American Federation of Sleep Societies
  • 摘要:We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support.
  • 关键词:Duchenne Muscular Dystrophy;Female symptomatic;Noninvasive ventilatory support;Sleep disorders
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