Degeneration of muscle spindles in a murine model of Pompe disease.

ABSTRACT: Pompe disease is a debilitating medical condition caused by a functional deficiency of lysosomal acid alpha-glucosidase (GAA). In addition to muscle weakness, people living with Pompe disease experience motor coordination deficits including an instable gait and posture. We reasoned that an impaired muscle spindle function might contribute to these deficiencies and therefore analyzed proprioception as well as muscle spindle structure and function in 4- and 8-month-old Gaa^-/- mice. Gait analyses showed a reduced inter-limb and inter-paw coordination in Gaa^-/- mice. Electrophysiological analyses of single-unit muscle spindle proprioceptive afferents revealed an impaired sensitivity of the dynamic and static component of the stretch response. Finally, a progressive degene

SUBMITTER: Watkins B 

PROVIDER: S-EPMC10121695 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature