has material basis in germline mutation in KIF5A autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation https://www.malacards.org/card/autosomal_dominant_charcot_marie_tooth_disease_type_2_due_to_kif5a_mutation CMT2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. MEDGEN:1633598 GARD:0021447 SCTID:764730007 MONDO:0017940 UMLS:C4707173 Orphanet:324611 Charcot-Marie-Tooth disease type 2 KIF5A-related neurological disorder