Skeletal Muscle Involvement in Friedreich Ataxia

Indelicato, E.; Wanschitz, J.; Löscher, W.; Boesch, S. Skeletal Muscle Involvement in Friedreich Ataxia. Int. J. Mol. Sci. 2024, 25, 9915. doi:10.3390/ijms25189915 

 Moreover, FRDA displays skeletal muscle involvement, which contributes to the weakness and marked fatigue evident throughout the course of the disease. Herein, we review skeletal muscle findings in FRDA generated by functional imaging, histology, as well as multiomics techniques in both disease models and in patients. Altogether, these findings corroborate a disease phenotype in skeletal muscle and support the notion of progressive mitochondrial damage as a driver of disease progression in FRDA. Furthermore, we highlight the relevance of skeletal muscle investigations in the development of biomarkers for early-phase trials and future therapeutic strategies in FRDA.

Skeletal Muscle Involvement in Friedreich Ataxia