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

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

Author Nozoe, Karen T. Autor UNIFESP Google Scholar
Akamine, RicardoT. Autor UNIFESP Google Scholar
Mazzotti, Diego R. Autor UNIFESP Google Scholar
Polesel, Daniel N. Autor UNIFESP Google Scholar
Grossklauss, Luis F. Autor UNIFESP Google Scholar
Tufik, Sergio Autor UNIFESP Google Scholar
Andersen, Monica L. Autor UNIFESP Google Scholar
Moreira, Gustavo A. Autor UNIFESP Google Scholar
Abstract 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.
Keywords Duchenne Muscular Dystrophy
Female symptomatic
Sleep disorders
Noninvasive ventilatory support
xmlui.dri2xhtml.METS-1.0.item-coverage Amsterdam
Language English
Sponsor AFIP
Grant number FAPESP: 2014/08067-0
Date 2016
Published in Sleep Science. Amsterdam, v. 9, n. 3, p. 129-133, 2016.
ISSN 1984-0659 (Sherpa/Romeo, impact factor)
Publisher Elsevier Science Bv
Extent 129-133
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000399920300001

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