Charcot-Marie-Tooth disease axonal type 2U
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.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT2U
exact
Charcot-Marie-Tooth disease type 2 caused by mutation in MARS
exact
Charcot-Marie-Tooth disease, axonal, type 2U
related
MARS Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
exact
autosomal dominant Charcot-Marie-Tooth disease type 2U
exact
SPBC17A3.04c