Optimal rehabilitative approach and treatment in Muscular Dystrophy. Case report

Abstract

Introduction: In children with muscular dystrophy (MD) delayed psychomotor development is frequent. This entity is part of the differential diagnosis of neonates and infants with muscular hypotonia, a complete anamnesis, and a detailed neurological examination aimed at ensuring diagnostic suspicion. Its approach and timely rehabilitation treatment are part of multidisciplinary strategies to ensure the overall health of the child with MD. Case description: Male patient, 8 years old, referred to Teleton at 7 months of age due to developmental delay. Initial evaluation revealed poor head control and hypotonia of 4 limbs. He started an individualized pediatric rehabilitation program, achieving head control at 13 months and gait at 30 months. At 6 years of age, he was able to run and started school. Follow-up showed lumbar hyperlordosis, tiptoe gait, positive Gowers sign, generalized hypotonia, and decreased shoulder girdle and pelvic muscle strength. Neuroelectrophysiological and serological tests (total creatine phosphokinase and transaminases) were ordered, with results consistent with DM. In January 2023, the 7-year-old patient became a wheelchair user, requiring greater assistance in daily activities, and continuing in school and rehabilitative treatment. Conclusion: Muscular dystrophies are degenerative diseases whose clinical and diagnosis suspicion can be difficult. Despite the natural progression of the disease, the rehabilitation approach focuses on neurostimulation, increasing independence, facilitating home care, reducing complications, and providing a better quality of life.