Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

Neuromuscul Disord. 2017 May;27(5):487-491. doi: 10.1016/j.nmd.2017.01.006. Epub 2017 Jan 16.


Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected. Vocal cord palsy was diagnosed shortly after. We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management.

Keywords: Autosomal recessive neuropathy; CMT4B1; MTMR2; Vocal cord palsy; Vocal fold laterofixation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / complications*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Charcot-Marie-Tooth Disease / physiopathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Mutation*
  • Phenotype
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Vocal Cord Paralysis / etiology*
  • Vocal Cord Paralysis / genetics*
  • Vocal Cord Paralysis / pathology
  • Vocal Cord Paralysis / physiopathology


  • MTMR2 protein, human
  • Protein Tyrosine Phosphatases, Non-Receptor

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 4B1