Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 4
Definition
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
Also known as axonal motor sensory neuropathy with deafness and intellectual disability, Charcot-Marie-Tooth disease with deafness and intellectual disability, Charcot-Marie-Tooth disease with deafness and mental retardation, Charcot-Marie-Tooth disease X-linked recessive type 4, Charcot-Marie-Tooth disease, X-linked recessive, 4, CMT4X, CMTX 4, CMTX4, cowchock syndrome, Cowchock syndrome, X-linked recessive, COWCK, NADMR, NAMSD, X-linked Charcot-Marie-Tooth disease type 4 — per MONDO