Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Synonym(s) ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
  • G60.0
MeSH -
MedDRA -


Disease definition

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.


ARCMT2K was originally described in three Spanish families and has since been described in five additional Spanish kindreds, as well as in families from Morocco, France and Poland.

Clinical description

Onset occurs in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype; see this term) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies in ARCMT2K patients are indicative of a predominantly axonal neuropathy with some demyelinating features.


ARCMT2K is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Mutations in the same gene are associated with CMT4A and with a milder, later-onset autosomal dominant axonal form of CMT, CMT2K (see this term).


The prognosis for ARCMT2K may be severe, with two of the reported patients dying during in the fifth decade of life.

Expert reviewer(s)

  • Dr Carmen ESPINÓS
  • Pr Francesc PALAU

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Anesthesia guidelines
Clinical practice guidelines
Article for general public
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.