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Neuromuscular Disease Models and Analysis.

Robert W Burgess1, Gregory A Cox2, Kevin L Seburn2

  • 1The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA. robert.burgess@jax.org.

Methods in Molecular Biology (Clifton, N.J.)
|May 7, 2016
PubMed
Summary

Assessing mouse models of neuromuscular diseases requires integrated histological, anatomical, and electrophysiological analysis of nerve and muscle. Understanding these complex phenotypes is crucial for evaluating disease progression and quality of life measures.

Keywords:
Amyotrophic lateral sclerosis (ALS)Charcot-Marie-Tooth diseasesCongenital myasthenic syndromesDuchenne’s diseaseHereditary motor and/or sensory neuropathies (HSMNs)Motor neuron diseasesMuscular dystrophiesNeuromuscular junctionPeripheral neuropathiesSpinal muscular atrophy (SMA)

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Area of Science:

  • Neurology
  • Neuroscience
  • Animal Models

Background:

  • Neuromuscular diseases impact peripheral neurons, axons, synapses, or target tissues.
  • Examples include Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth diseases, myasthenias, and muscular dystrophies.

Purpose of the Study:

  • To describe methods for assessing neuromuscular disease phenotypes in mouse models.
  • To highlight the integrated approach needed for comprehensive characterization.

Main Methods:

  • Histological and anatomical examination of nerve and muscle.
  • Functional assessment using electrophysiology.
  • Evaluation of gross motor performance and quality of life measures (e.g., gait, grip strength).

Main Results:

  • Integrated analysis reveals inter-relatedness of neuromuscular disease phenotypes.
  • Observed defects correlate with disease onset, severity, and progression.

Conclusions:

  • A multi-faceted approach is essential for accurate assessment of neuromuscular disease models in mice.
  • Interpreting results requires consideration of the complex interplay between different disease manifestations.