Sleep Science (Jul 2016)

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

  • Karen T. Nozoe,
  • Ricardo T. Akamine,
  • Diego R. Mazzotti,
  • Daniel N. Polesel,
  • Luís F. Grossklauss,
  • Sergio Tufik,
  • Monica L. Andersen,
  • Gustavo A. Moreira

DOI
https://doi.org/10.1016/j.slsci.2016.07.004
Journal volume & issue
Vol. 9, no. 3
pp. 129 – 133

Abstract

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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.

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