Autosomal dominant Charcot-Marie-Tooths sykdom type 2F


Engelsk navn: Autosomal dominant Charcot-Marie-Tooth disease type 2F
Engelske synonym: CMT2F


Definisjon

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

Fra Orphanet

ORPHA: 99940
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)