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