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Updated: Aug 8, 2026
05:58
Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Muscle channelopathies: A review
Bridget R McGowan1,2, Abigail N Schwaede1,2, Lenika De Simone2,3
1Division of Neurology Ann and Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA.
Annals of the Child Neurology Society
|August 7, 2026
Summary
Muscle channelopathies are rare disorders affecting muscle function. Early suspicion, neurophysiological, and genetic testing aid diagnosis, enabling trigger avoidance and targeted treatments for better patient outcomes.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Muscle channelopathies are rare, heterogeneous disorders impacting adults and children.
- These conditions present clinical challenges and functional disability.
- Understanding of pathophysiology, phenotypes, diagnostics, and treatments has evolved significantly.
Purpose of the Study:
- To provide a comprehensive review of muscle channelopathies, including nondystrophic myotonias and periodic paralyses.
- To classify these disorders based on the presence or absence of myotonia.
- To detail historical background, genetics, pathophysiology, phenotypes, and treatment strategies.
Main Methods:
- Classification of disorders based on clinical and electrophysiological myotonia.
- Review of historical data, genetic underpinnings, pathophysiology, and clinical presentations.
- Analysis of neurophysiologic testing responses and genetic findings.
Main Results:
- Disorders exhibit both shared characteristics and unique phenotypic nuances.
- Neurophysiologic testing differentiates responses, aiding differential diagnosis.
- Genetic advances pinpoint causative ion channels.
Conclusions:
- A high index of suspicion and phenotype knowledge are crucial for diagnosis.
- Neurophysiological and genetic testing guide diagnostic pathways.
- Diagnosis facilitates trigger avoidance and targeted, channel-based therapies.
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