Charcot Marie Tooth disease 2S (CMT2S)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Charcot Marie Tooth disease 2S (CMT2S). This is caused by mutations in the IGHMBP2 gene on chromosome 11q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the IGHMBP2 gene on chromosome 11q
  • It is also linked to distal spinal muscular atrophy type 1 (dSMA1)
  • The onset age is from 6 months to 10 years

Clinical features

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Occasional features

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Differential diagnosis

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Acronym

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References

  1. Cottenie E, Kochanski A, Jordanova A, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 2014; 95:590-601. 
  2. Schottmann G, Jungbluth H, Schara U, et al. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology 2015; 84:523-531.
  3. Bektaş H, Şener N, Bilgin N, et al. Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation. Neuromuscul Disord 2026; 59:106309.

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