NEUROPATHY-CHARCOT MARIE TOOTH (CMT)

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SUMMARY

1. Motor and sensory neuropathy, is by far (90%) the most common inherited peripheral polyneuropathy.

2. There are 7 "types" composed of > 30 separate disorders, all caused by mutations in myelin genes that are variably inherited.

3. CMT diseases are demyelinating and are differentiated based on genetic markers, with sensory-motor impairment and present within the first 2 decades of life.

4. Diagnosis is with genetic testing and EMG/NCS is rarely required, treatment is supportive.

5. Gait: bilateral foot-drop, wide-based, high-steppage gait.


Reference(s)

Wilkinson, I., Furmedge, D. and Sinharay, R. (2017). Oxford handbook of clinical medicine. Oxford: Oxford University Press. Get it on Amazon.
Feather, A., Randall, D. and Waterhouse, M. (2020). Kumar And Clark’s Clinical Medicine. 10th ed. S.L.: Elsevier Health Sciences. Get it on Amazon.
Hannaman, R. A., Bullock, L., Hatchell, C. A., & Yoffe, M. (2016). Internal medicine review core curriculum, 2017-2018. CO Springs, CO: MedStudy.
Therapeutic Guidelines. Melbourne: Therapeutic Guidelines Limited. https://www.tg.org.au [Accessed 2021].

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