3.8 Article

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

Journal

SLEEP SCIENCE
Volume 9, Issue 3, Pages 129-133

Publisher

BRAZILIAN ASSOC SLEEP
DOI: 10.1016/j.slsci.2016.07.004

Keywords

Duchenne Muscular Dystrophy; Female symptomatic; Sleep disorders; Noninvasive ventilatory support

Funding

  1. AFIP
  2. CAPES
  3. CNPq
  4. FAPESP [2014/08067-0]

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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. (C) 2016 Brazilian Association of Sleep. Production and Hosting by Elsevier B.V.

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