Disease association ontology term - MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U
Term summary
- ID
- MONDO:0014566
- Name
- Charcot-Marie-Tooth disease axonal type 2U
- Ontology or CV name
- Disease association
- 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.
