Classic manifestations of Duchenne dystrophy in a young female patient: a case report

Marcio Leyser; Fernanda J P Marques; Marco Aurelio C Elias; Marcia C Diniz Gonsalves; Odilon Soares da Silva Jr; Ricardo S Carvalho; Cynthia Costa e Silva; Marcio Moacyr de Vasconcelos; Osvaldo J M Nascimento

doi:10.1016/j.ejpn.2012.08.002

Classic manifestations of Duchenne dystrophy in a young female patient: a case report

Eur J Paediatr Neurol. 2013 Mar;17(2):212-8. doi: 10.1016/j.ejpn.2012.08.002. Epub 2012 Sep 7.

Authors

Marcio Leyser¹, Fernanda J P Marques, Marco Aurelio C Elias, Marcia C Diniz Gonsalves, Odilon Soares da Silva Jr, Ricardo S Carvalho, Cynthia Costa e Silva, Marcio Moacyr de Vasconcelos, Osvaldo J M Nascimento

Affiliation

¹ The SARAH Network of Neurorehabilitaion Hospitals, SARAH International Center for Neurorehabilitation and Neuroscience, Brazil. marcioley@hotmail.com

PMID: 22959238
DOI: 10.1016/j.ejpn.2012.08.002

Abstract

Duchenne and Becker muscular dystrophies (DMD/DMB) are neuromuscular diseases linked to chromosome X and affect mainly male individuals. Duchenne muscular dystrophy is the most severe form of the disease, leading to a decreased patient survival compared with individuals with Becker type and female carriers of the mutated gene. In this paper we present the case of a female adolescent whose clinical picture and disease course closely resembled male individuals.

Publication types

Case Reports

MeSH terms

Adolescent
Child
Dystrophin / genetics
Female
Heterozygote
Humans
Muscular Dystrophy, Duchenne / complications*
Muscular Dystrophy, Duchenne / genetics*
Muscular Dystrophy, Duchenne / physiopathology*

Substances

DMD protein, human
Dystrophin