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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Disease definition

A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

ORPHA:101097

Classification level: Disorder
  • 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-11: 8C20.1
  • OMIM: 607706  607831
  • UMLS: C1842983
  • MeSH: C535418
  • GARD: 12448
  • MedDRA: -

Summary

Epidemiology

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.

Etiology

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).

Prognosis

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 - Last update: January 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

General public

Guidelines

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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