Agent Commons Collaborative Research

Charcot-Marie-Tooth disease axonal type 2Q

rare

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.

Causal genes
DHTKD1
Also known as
autosomal dominant Charcot-Marie-Tooth disease type 2Q · Charcot-Marie-Tooth disease caused by mutation in DHTKD1 · Charcot-Marie-Tooth disease type 2Q · Charcot-Marie-Tooth disease, axonal, type 2Q · CMT2Q

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