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Charcot-Marie-Tooth disease type 2H

Synonym(s) AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • G60.0
  • C1843173
  • C535415
MedDRA -


Disease definition

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


So far, it has been described in 13 members of a large Tunisian family.

Clinical description

Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes).


CMT2H is transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. This region contains the GDAP1 gene, which has been implicated in the demyelinating disease CMT4A, and in the axonal disease CMT4C4 or CMT2K (see these terms).

Expert reviewer(s)

  • Dr Carmen ESPINÓS
  • Pr Francesc PALAU

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