Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2Q
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
Also known as autosomal dominant Charcot-Marie-Tooth disease type 2Q, Charcot-Marie-Tooth disease caused by mutation in DHTKD1, CMT2Q, DHTKD1 Charcot-Marie-Tooth disease — per MONDO