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Charcot-Marie-Tooth disease type 4H

ORPHA99954
Synonym(s) CMT4H
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • G60.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy

It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria.

Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction.

CMT4H is caused by mutations in the FGD4 gene (12p11.1).

Nerve conduction velocities were severely reduced and histological studies revealed loss of myelinated fibers, onion bulbs, circumscribed myelin swellings and proliferation.

CMT4H is transmitted in an autosomal recessive manner.

Expert reviewer(s)

  • Dr Carmen ESPINÓS
  • Pr Francesc PALAU

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Detailed information

Anesthesia guidelines
  • ES (2014,pdf)
  • EN (2014,pdf)
Clinical genetics review
  • EN (2013)
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