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Case 28 - Charcot–Marie–Tooth Disease (CMT) Type 2 A and Type 2B
from Peripheral Neuropathies
Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
Book:

Neuromuscular Disease

Published online:

29 November 2024

Print publication:

19 December 2024, pp 149-150
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Summary

A 40-year-old man was referred because he wished to be informed about the genetic nature of his disorder. He was diagnosed with Charcot–Marie–Tooth (CMT) disease. At 14 months of age, he started walking, but awkwardly due to a bilateral drop foot for which braces were prescribed. On first examination at age 2 years and 8 months, there was marked atrophy, hypotonia, and areflexia of the lower legs, and slight wasting of the thenar and hypothenar. At that time, nerve conduction studies showed normal motor conduction velocities of arm nerves. No motor unit action potentials could be recorded in the lower leg muscles on concentric needle examination.