Charcot-Marie-Tooth disease axonal type 2Q
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.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT2Q
exact
Charcot-Marie-Tooth disease caused by mutation in DHTKD1
exact
Charcot-Marie-Tooth disease type 2Q
related
Charcot-Marie-Tooth disease, axonal, type 2Q
related
DHTKD1 Charcot-Marie-Tooth disease
exact
autosomal dominant Charcot-Marie-Tooth disease type 2Q
exact