Spinal Muscle Degeneration in Dysferlinopathy Affects Gait and Identifies Cellular and Therapeutic Target

However, spinal pathology is often reported in dysferlinopathy patients. Through a cross-sectional magnetic resonance imaging (MRI) analysis of patients with dysferlinopathy and longitudinal analysis of dysferlinopathic mouse model we uncover early-onset and progressive adipogenic degeneration of spinal muscles as a hallmark of this disease.

This is caused by region-specific spinal muscle degeneration, with the iliocostalis, longissimus, and spinalis muscles being most affected. Notably, longitudinal analysis of mouse showed over five-fold greater adipogenic loss of spinal muscle compared to the limb muscles with spinal muscle degeneration preceded the limb muscles. Spinal muscle loss in mice causes decreased spinal tone causing flattening of the body along its length and onset of gait abnormalities.