Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:101078

X-linked Charcot-Marie-Tooth disease type 4

Also called CMT4X, CMTX4, Cowchock syndrome

Body system
Neurological diseases
Inheritance pattern
X-linked recessive
Typical age of onset
Childhood, Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:101078 is classified under "Neurological diseases" in the Orphanet nomenclature.

Common signs

  • Areflexia
  • Pes cavus
  • Distal muscle weakness
  • Skeletal muscle atrophy
  • Sensorimotor neuropathy
  • Decreased nerve conduction velocity