[Charcot-Marie-Tooth Disease: Historical Evolution and Present Understanding].

Area of Science:

• Neurology
• Genetics
• Medical History

Background:

• Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy.
• Characterized by progressive distal muscle weakness, atrophy, and sensory impairment.
• Original descriptions by Charcot, Marie, and Tooth date back to 1886.

Purpose of the Study:

• To review the historical development of Charcot-Marie-Tooth disease.
• To analyze evolving classification systems based on clinical, electrophysiological, and genetic findings.
• To provide an overview of current diagnostic and emerging therapeutic strategies for CMT.

Main Methods:

• Review of original 1886 publications by Charcot, Marie, and Tooth.
• Analysis of historical and current literature on CMT classification.
• Examination of diagnostic strategies combining clinical evaluation and genetic testing.
• Overview of emerging therapeutic approaches, including gene-based interventions.

Main Results:

• Over 140 causative genes identified complicate traditional CMT classifications.
• Current diagnostics integrate clinical assessment with genetic testing.
• Emerging therapies include siRNA and CRISPR-Cas9 targeting PMP22 for CMT1A.

Conclusions:

• The understanding and classification of Charcot-Marie-Tooth disease have evolved significantly.
• Genetic discoveries have transformed diagnostic approaches.
• Advances in molecular biology offer promising new therapeutic avenues for CMT.