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Related Experiment Video

Updated: Feb 14, 2026

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
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Neuropathy.

Chiara Pisciotta1, Michael E Shy1

  • 1Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.

Handbook of Clinical Neurology
|February 27, 2018
PubMed
Summary

Genetic neuropathies, primarily Charcot-Marie-Tooth disease (CMT), are common inherited disorders. Advances in genetic diagnosis and understanding disease mechanisms are paving the way for future therapies.

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Journal of the peripheral nervous system : JPNS·2026
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ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world cases.

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Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network.

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Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.

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Area of Science:

  • Neurology
  • Genetics
  • Medical Research

Background:

  • Genetic neuropathies are a diverse group of disorders.
  • Charcot-Marie-Tooth disease (CMT) is the most prevalent form, affecting 1 in 2500 people.
  • CMT encompasses various inherited sensory and/or motor neuropathies.

Purpose of the Study:

  • To review the clinical features of CMT.
  • To suggest genetic testing strategies for inherited neuropathies.
  • To provide an update on new-generation sequencing techniques in this field.

Main Methods:

  • Review of clinical features of Charcot-Marie-Tooth disease.
  • Analysis of genetic testing strategies.
  • Update on next-generation sequencing applications.

Main Results:

  • The number of identified CMT disease genes has rapidly increased.
  • Accurate genetic diagnosis is becoming more feasible.
  • Research into pathogenesis is advancing understanding and therapeutic approaches.

Conclusions:

  • Despite no current specific therapies, research is progressing.
  • Understanding CMT pathogenesis is key to developing rational therapeutic strategies.
  • New-generation sequencing offers improved diagnostic capabilities for inherited neuropathies.
Keywords:
Charcot–Marie–Toothdiagnosisgenetic testinginherited neuropathynew-generation sequencing

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