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