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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Orpha number ORPHA101097
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
Neonatal
ICD-10
  • G60.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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. 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

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Detailed information

Anesthesia guidelines
  • ES (2014,pdf)
  • EN (2014,pdf)
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