Audio
Clinical Professionals
Charcot-Marie-Tooth Disease: Patterns, Genes, and Early Presentation
Reviews the major Charcot-Marie-Tooth phenotypes, dominant genes, and the childhood or young-adult presentation pattern.
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Duration
00:03:05
File size
1.76 MB
Practitioner-Guided Note
Use inheritance pattern, foot deformities, and age at onset to recognize hereditary neuropathy early. Genetic testing is most useful when the phenotype fits a classic CMT pattern.
Key Takeaways
CMT1 is demyelinating and CMT2 is axonal; PMP22, MFN2, and MPZ are major genes; Most genetically confirmed cases involve a small core gene set; Symptoms often start in childhood or young adulthood; Foot deformities and delayed motor milestones are classic clues