31. Đánh giá chức năng vận động của bệnh nhân teo cơ tủy sống

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN) gene on chromosome 5q13. The condition is characterized by generalized muscle weakness, atrophy, and ultimately, disability and death. The Hammersmith Infant Neurological Examination Section 2 (HINE-2), the Hammersmith Functional Motor Scale (HFMS), and the Revised Upper Limb Module (RULM) are commonly used to assess motor function in SMA patients. This study aimed to evaluate motor abilities using these assessment tools in 121 SMA patients with confirmed diagnoses at the Vietnam National Children's Hospital from January 2021 to August 2023. Results: The lowest median HINE-2 score was in the SMA I group (3 points), while the highest was in the SMA III group (22.5 points). Regarding the Hammersmith scale, the median scores for the SMA II and SMA III groups were 17 points and 41 points, respectively, with no difference between age groups. Similarly, on the RULM scale, the median scores for the SMA II and SMA III groups were 17 points and 26 points, respectively, regardless of age. Conclusion: The SMA I group had the lowest motor function scores, while the SMA II and SMA III groups demonstrated higher scores. Higher scores on the scales corresponded to greater motor abilities.