Motor Unit Patterns Correlate With Severity in Symptomatic Patients With Spinal Muscular Atrophy.

ABSTRACT:

Background

We systematically evaluated the different components of the motor unit using an integrated set of noninvasive electrophysiological techniques across a broad spectrum of disease severity in symptomatic adolescents and adults with spinal muscular atrophy types 1-4.

Methods

We performed detailed electrophysiological mapping of the median nerve, including the compound muscle action potential scan, and repetitive nerve stimulation, in 104 genetically confirmed patients with SMA (aged ≥ 12 years, types 1c-4) before the start of DMT. We compared data to a reference group of 65 healthy controls.

Results

Motor unit patterns were significantly altered in patients with SMA, showing severe motor unit loss and enlarged motor units. Distinct patterns reflected disease se

SUBMITTER: Ros LAA 

PROVIDER: S-EPMC12690616 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature