title: Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.
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.
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Karen T
authors.initials: KT
authors.lastname: Nozoe
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Ricardo T
authors.initials: RT
authors.lastname: Akamine
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Diego R
authors.initials: DR
authors.lastname: Mazzotti
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Daniel N
authors.initials: DN
authors.lastname: Polesel
authors.affiliation: Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Luís F
authors.initials: LF
authors.lastname: Grossklauss
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Sergio
authors.initials: S
authors.lastname: Tufik
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Monica L
authors.initials: ML
authors.lastname: Andersen
authors.affiliation: Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Gustavo A
authors.initials: GA
authors.lastname: Moreira
keywords: Duchenne Muscular Dystrophy; Female symptomatic; Noninvasive ventilatory support; Sleep disorders