MUSCLE impairments are a significant yet understudied burden in patients with osteogenesis imperfecta (OI), with consequences that extend far beyond bone fragility. A new narrative review highlights that individuals with OI, a rare genetic connective tissue disorder, consistently exhibit lower muscle strength and power, poor balance, and increased fatigability, findings that compound their risk of falls, fractures, and functional limitations.
OI is widely recognized for its hallmark skeletal complications, including deformity and bone fragility. However, this review underscores a broader systemic impact, focusing on the pronounced deficits in skeletal muscle health. Muscle impairments in OI are driven by reduced muscle mass and quality, but are also exacerbated by accompanying dysfunctions in metabolic, sensory, and ventilatory systems. These combined deficits diminish not only mobility but also the ability to perform basic daily tasks safely and independently.
Despite the clear functional implications, the epidemiology of muscle impairments in OI remains poorly characterized. More severe phenotypes appear to correlate with greater deficits in muscle mass and strength, but there is a lack of detailed population-level data that could inform tailored interventions. Moreover, current evidence on therapeutic strategies, from physical activity to pharmacologic interventions, is limited and inconclusive. This leaves clinicians without robust guidance on how to support muscle health in this vulnerable patient group.
The review calls for a nuanced approach to evaluating and managing muscle function in OI, considering individual variation in disease severity. Future research should prioritize the identification of effective, personalized interventions to mitigate muscle-related disability and enhance quality of life. With mobility and independence so closely tied to muscle function, addressing this gap may offer substantial gains in overall patient outcomes.
Reference:
Ireland A et al. Muscle impairments in osteogenesis imperfecta: a narrative review. JBMR Plus. 2025;9(8):ziaf099.
