Published April 8, 2026
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DISTROFIA MUSCULAR DE DUCHENNE
Description
Justification: Duchenne Muscular Dystrophy is characterised as a rare recessive disease, of a genetic nature, related to the X chromosome, generally due to the deletion of the Xp21 locus, which causes deficiency of the functional dystrophin protein, generally occurring in male individuals. Objective: disseminate initial information on the main signs and symptoms that may lead physiotherapy professionals and paediatric dentists to identify and refer patients for diagnosis and treatment of Duchenne Muscular Dystrophy. Methodology: exploratory-explanatory research, with search in the SciELO database and Virtual Health Library, through the descriptor "Duchenne Muscular Dystrophy", in Portuguese, Spanish, French, Russian and English in an open period and, the team's experience in rare orofacial syndromes. Conclusion: There is still no cure for Duchenne Muscular Dystrophy. However, many therapies have emerged to improve the signs and symptoms, offering a better quality of life for patients and their caregivers. Physiotherapy has been fundamental in delaying some of the sequelae of Duchenne Muscular Dystrophy, whether in respiratory strength, muscle preservation, among other benefits to the patient. Aquatic physiotherapy stands out as an important resource due to the physical qualities of water. In paediatric dentistry, the prevention and correction of open bite, crossbite, treatment and prevention of caries, bruxism, malocclusion, periodontitis, masticatory dysfunction, dysphagia, among others, must be constant. Care at all stages of these patients' lives should have a humanised approach, including their caregivers and family members.
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