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Case Reports
. 2024 May;31(5):e16199.
doi: 10.1111/ene.16199. Epub 2024 Feb 26.

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A

Pedro José Tomaselli  1 , Julian Blake  2   3 , James M Polke  4 , Osvaldo José Moreira do Nascimento  5 , Mary M Reilly  2 , Wilson Marques Júnior  1 , Matilde Laurá  2
Affiliations
Case Reports

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A

Pedro José Tomaselli et al. Eur J Neurol. 2024 May.

Abstract

Background and purpose: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported.

Method: Case report.

Results: Two genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin). Both individuals had upper limb motor NCVs above 38 m/s, with values ranging from 41.9 to 45 m/s in the median nerve and from 42 to 42.3 m/s in the ulnar nerve. They presented with a very mild phenotype, with CMT Neuropathy Score version 2 (CMTNSv2) of 6 and 5, respectively. In contrast, affected family members within both kinships exhibited a classical phenotype with more severe disease manifestation (CMTNSv2 ranging from 12 to 20) and motor NCVs below 30 m/s.

Conclusion: These cases, although very rare, highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities.

Keywords: PMP22; Charcot−Marie−Tooth disease; electromyography; hereditary sensory and motor neuropathy.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

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