Neuromuscular Disease Models and Analysis

Abstract

Neuromuscular diseases can affect the survival of peripheral neurons, their axons extending to peripheral targets, their synaptic connections onto those targets, or the targets themselves. Examples include motor neuron diseases such as Amyotrophic Lateral Sclerosis, peripheral neuropathies such as Charcot-Marie-Tooth diseases, myasthenias, and muscular dystrophies. Characterizing these phenotypes in mouse models requires an integrated approach, examining both the nerve and muscle histologically, anatomically, and functionally by electrophysiology. Defects observed at these levels can be related back to onset, severity, and progression, as assessed by "Quality of life measures" including tests of gross motor performance such as gait or grip strength. This chapter describes methods for assessing neuromuscular disease models in mice, and how interpretation of these tests can be complicated by the inter-relatedness of the phenotypes.

Keywords: Amyotrophic lateral sclerosis (ALS); Charcot-Marie-Tooth diseases; Congenital myasthenic syndromes; Duchenne’s disease; Hereditary motor and/or sensory neuropathies (HSMNs); Motor neuron diseases; Muscular dystrophies; Neuromuscular junction; Peripheral neuropathies; Spinal muscular atrophy (SMA).