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

Autor(es)

Nozoe, Karen T. ; Akamine, RicardoT. ; Mazzotti, Diego R. ; Polesel, Daniel N. ; Grossklauss, Luis F. ; Tufik, Sergio ; Andersen, Monica L. ; Moreira, Gustavo A.

• Tipo de documento: Artigo Científico
• Fonte: SLEEP SCIENCE; v. 9, n. 3, p. 129-133, JUL-SEP 2016.
• Citações Web of Science: 4

Resumo

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. (AU)

• Processo FAPESP: 14/08067-0 - Perfil de saúde físico e psicológico das mães-cuidadoras de filhos com Distrofia Muscular de Duchenne
• Beneficiário: Karen Tieme Nozoe
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto