Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen.

ABSTRACT:

Objective

Spinal muscular atrophy (SMA) is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. Prior work in models and patients has demonstrated electrophysiological and morphological defects at the neuromuscular junction (NMJ). Therapeutic development has resulted in clinically available therapies to increase SMN protein levels in patients and improve muscle function. Here we aimed to investigate the effect of SMN restoration (via nusinersen) on NMJ transmission in adults with SMA.

Methods

Participants undergoing nusinersen treatment underwent 3 Hz repetitive nerve stimulation (RNS) of the spinal accessory nerve to assess compound muscle action potential amplitude decrement. Maximum voluntary isometric contraction (MVICT), Revised Upper Limb

SUBMITTER: Arnold WD 

PROVIDER: S-EPMC8362737 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature