/Charcot-Marie-Tooth disease axonal type 2Q

Charcot-Marie-Tooth disease axonal type 2Q

Rare Disease

MONDO:0014012

Also Known As

CMT2QCharcot-Marie-Tooth disease caused by mutation in DHTKD1Charcot-Marie-Tooth neuropathy type 2QDHTKD1 Charcot-Marie-Tooth diseaseautosomal dominant Charcot-Marie-Tooth disease type 2Qautosomal dominant axonal Charcot-Marie-Tooth disease type 2QCharcot-Marie-Tooth disease type 2QCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2QCharcot-Marie-Tooth disease, axonal, type 2QCharcot-Marie-Tooth neuropathy, 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.