Doherty, Carolynne M;
Howard, Paige;
O'Donnell, Luke F;
Zuccarino, Riccardo;
Wastling, Stephen;
Milev, Evelin;
Banks, Tina;
... Reilly, Mary M; + view all
(2024)
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
Annals of Neurology
10.1002/ana.26934.
(In press).
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Abstract
Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot–Marie–Tooth disease type 1A (CMT1A) patients with lower baseline calf-level FF. We investigated the practicality, validity, and responsiveness of foot-level FF in this cohort involving 22 CMT1A patients and 14 controls. The mean baseline foot-level FF was 25.9 ± 20.3% in CMT1A patients, and the 365-day FF (n = 15) increased by 2.0 ± 2.4% (p < 0.001 vs controls). Intrinsic foot-level FF demonstrated large responsiveness (12-month standardized response mean (SRM) of 0.86) and correlated with the CMT examination score (ρ = 0.58, P = 0.01). Intrinsic foot-level FF has the potential to be used as a biomarker in future clinical trials involving younger CMT1A patients.
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