Motor Function Changes in Duchenne Muscular Dystrophy: A Case Series Using Conventional and Spinal Muscular Atrophy-Based Assessments During Viltolarsen Treatment.

BACKGROUND: Motor function tests (MFTs) in Duchenne muscular dystrophy (DMD) are useful in the early stage but may miss subtle changes in the advanced stage due to floor effects. Conventional DMD-specific MFTs primarily assess proximal motor function and may not adequately detect distal motor function. Based on our clinical experience in spinal muscular atrophy (SMA), fine motor assessments such as the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) have been observed to be effective in detecting changes even in severely affected patients. Therefore, the aim of this study was to assess treatment response to viltolarsen in patients with DMD using both DMD-specific and SMA-based MFTs.

METHODS: We retrospectively evaluated three patients with genetically confirmed DMD: two nonambulatory adolescents aged 17 and 19 years treated with viltolarsen for 36 months, and 1 ambulatory 6-year-old patient treated for 10 months, assessed at baseline and final visits using conventional DMD-specific MFTs, including time to stand from supine, 10-meter walk/run, Brooke upper extremity scale, and SMA-based MFTs such as CHOP-INTEND.

RESULTS: In the ambulatory patient, the time to stand from supine showed a slight increase that did not reach the minimal clinically important difference, while the 10-meter walk/run test showed a slight decline. In contrast, both nonambulatory patients showed marked improvements in CHOP-INTEND scores, despite no change in conventional MFTs.

CONCLUSIONS: These findings suggest that CHOP-INTEND may capture subtle but clinically meaningful improvements in advanced-stage DMD. In conclusion, selecting stage-appropriate MFTs based on disease severity is important when evaluating treatment-related changes in patients with DMD.