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Revista Med

versão impressa ISSN 0121-5256versão On-line ISSN 1909-7700

Resumo

CHAUSTRE R., DIEGO M.  e  CHONA S., WILLINGTON. DUCHENNE MUSCULAR DYSTROPHY: PERSPECTIVES FROM THE REHABILITATION. rev.fac.med [online]. 2011, vol.19, n.1, pp.37-44. ISSN 0121-5256.

Duchenne Muscular Dystrophy (DMD) is a type of severe neuromuscular disease that occurs during childhood. It affects approximately 1 in 3500 to 6000 live male births; it is associated with the recessive X chromosome, and it manifest itself in a slightest way as Becker Muscular Dystrophy, due to a mutation in the dystrophin gene located in Xp21. This is a disabling disease that inevitably occurs until a progressive deterioration of the muscles leads to the patient's death, usually from cardiorespiratory complications. From the point of view of rehabilitation, a series of management strategies have been developed in multidisciplinary groups ranging from gym work with stretch therapists to wheelchair prescriptions, and the development of noninvasive mechanical ventilation which, while they do not modify the genetic basis of the disease, do significantly improve the patient's independence as well as the care given by family and caregivers, and provide a better quality of life.

Palavras-chave : Duchenne muscular dystrophy; dystrophin; rehabilitation.

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