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Updated: May 10, 2026
06:35
In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Published on: June 15, 2018
Inherited neuropathies: clinical overview and update
Christopher J Klein1, Xiaohui Duan, Michael E Shy
1Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
Muscle & Nerve
|June 27, 2013
Summary
Inherited neuropathies are common neurologic disorders. Comprehensive evaluations, including genetic testing, aid diagnosis and management, though treatments are mainly supportive.
Area of Science:
- Neurology
- Genetics
- Clinical Medicine
Background:
- Inherited neuropathies represent a common, genetically diverse group of neurologic disorders.
- Diagnosis can be challenging due to heterogeneous presentations and potential co-existing acquired factors.
- Current treatment strategies are primarily supportive, with exceptions for rare inherited metabolic types.
Purpose of the Study:
- To provide an updated clinical overview of inherited neuropathies.
- To outline diagnostic frameworks incorporating genetic testing.
- To discuss differential diagnoses and clinical features.
Main Methods:
- Review of clinical presentations and genetic etiologies of inherited neuropathies.
- Integration of neuromuscular evaluations: nerve conduction studies, laboratory tests, histopathology.
- Guidance on selecting and interpreting genetic tests.
Main Results:
- Detailed neuromuscular evaluations are crucial for identifying inherited components.
- Genetic testing is increasingly vital for definitive diagnosis.
- Diagnostic complexity arises from combined genetic and acquired influences.
Conclusions:
- A structured approach to inherited neuropathies, integrating clinical assessment and genetic testing, is essential.
- Evolving strategies aim to maximize the utility of genetic diagnostics.
- Supportive care remains the cornerstone of management for most inherited neuropathies.
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