CMT type 5
Også kjent som: X‑linked Charcot‑Marie‑Tooth disease type 5
Engelsk navn: X-linked Charcot-Marie-Tooth disease type 5
Engelske synonym: CMT5X,CMTX5
Definisjon
A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.
Fra Orphanet
ORPHA: 99014
Klassifiseringsnivå: Disorder
ICD-10: G60.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
