Electrophysiological Assessment of CNS Abnormalities in Muscular Dystrophy

Abstract

Patients affected by muscular dystrophies often show CNS abnormalities. Patients with dystrophinopathies exhibit intellectual disabilities and mental retardation, while subjects with facioscapulohumeral muscular dystrophy (FSHD) often show epilepsy. Dystrophin and associated proteins have important roles in the CNS. Many patients with Duchenne and Becker muscular dystrophies (DMD/ BMD) have cognitive impairment, learning disability, and variable degrees of mental retardation in addition to progressive muscular weakness. Unfortunately, the assessment of cortical function with TMS in DMD patients has not been able to delineate a clear picture and has yielded contradictory results. No TMS studies have been performed on BMD patients. Repetitive transcranial magnetic stimulation (rTMS) modulates cortical excitability, possibly by inducing a short-term increase in synaptic efficacy, and can be used to investigate motor cortex excitability in BMD patients. Changes in the size and threshold of motor evoked potentials (MEPs) and cortical silent period (CSP) duration evoked by rTMS delivered in 5 Hz trains of stimuli at suprathreshold intensity can be tested. Impaired muscular function might be partially compensated by an enhancement of motor excitability at the cortical level and/or at α-motoneuron level. TMS may thus offer a reliable means to characterize also important neurophysiologic and pathophysiologic aspects of cortical involvement in muscular dystrophy.