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Villalaz, I., Ferdin, L., Lara, D., & Callender, E. (2023). Duchenne muscular dystrophy. Revista Semilla Científica, 1(4), 333–343. https://doi.org/10.37594/sc.v1i4.1281
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Abstract

Duchenne muscular dystrophy is one of the hereditary skeletal muscle myopathies, leading to disability in the first decade of life and then death from respiratory or cardiac failure. The gene responsible for the disease is known as DMD and is located on the short arm of the X chromosome. After analysis of the results obtained after the laboratory methodology was applied, the fetus was found to be sick, and the family opted for termination of the pregnancy. It is characterized by degeneration of the fibers. Objective: to make known the disease and the physiotherapeutic treatment that can be followed to help improve and control the disease. Methods: An observational and descriptive study was carried out, where the clinical histories of patients with the diagnosis of Duchenne muscular dystrophy were reviewed, where the clinical and paraclinical aspects of the entity were described. Results: The average age at the time of diagnosis was five years. Six had delayed psychomotor development and gait was found to be impaired in seven patients, this being the main reason for consultation together with frequent falls. Three patients had died by the end of the period under study. Conclusions: A multidisciplinary treatment is required to delay the evolution of the disease, as long as a curative treatment is not available. It is necessary to know the representative aspects of this disease in order to make an early diagnosis.

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References

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