Sarcopenia and Muscle Dysfunction in Osteogenesis Imperfecta: Insights from A Pilot Study.

OBJECTIVE

This study aimed to assess the prevalence of sarcopenia in adult patients with osteogenesis imperfecta (OI) and to identify its associated factors.

METHODS

Seventeen adult OI patients and 17 adult healthy controls matched for age, sex, and BMI were included. Assessments included handgrip strength (HGS), ultrasonographic muscle measurements, the International Physical Activity Questionnaire (IPAQ), Upper and Lower Extremity Functional Indices (UEFI & LEFI), the SARC-F questionnaire, and laboratory markers.

RESULTS

Left-handgrip strength was significantly lower in OI patients than in controls (21.8±4.9 kg vs. 25.3±4.2 kg, p = 0.034). Four OI patients had a SARC-F score ≥4, whereas none in the control group did. Handgrip strength was negatively correlated with thigh fat thickness (r = - 0.604, p = 0.010) and free T4 levels (p < 0.05) but positively correlated with gastrocnemius thickness, serum calcium, albumin, and triglycerides (p < 0.05).

CONCLUSION

Routine muscle strength assessments should be considered an integral component of OI management to optimize patient outcomes. This work is a pilot, hypothesis‑generating study; its preliminary findings require confirmation in larger cohorts with formal power calculations.