/Charcot-Marie-Tooth disease axonal type 2U

Charcot-Marie-Tooth disease axonal type 2U

Rare Disease

MONDO:0014566

Also Known As

CMT2UCharcot-Marie-Tooth disease type 2 caused by mutation in MARSCharcot-Marie-Tooth neuropathy type 2UMARS Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutationautosomal dominant Charcot-Marie-Tooth disease type 2Uautosomal dominant axonal Charcot-Marie-Tooth disease type 2UCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2UCharcot-Marie-Tooth disease, axonal, type 2UCharcot-Marie-Tooth neuropathy, type 2U

Definition

Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.