Charcot-Marie-Tooth disease X-linked recessive 4

Disease Overview

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.

Synonyms

• CMT4X
• CMTX 4
• CMTX4
• COWCK
• Charcot-Marie-Tooth disease X-linked recessive type 4
• 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, 4
• Cowchock syndrome, X-linked recessive
• NADMR
• NAMSD
• X-linked Charcot-Marie-Tooth disease type 4
• axonal motor sensory neuropathy with deafness and intellectual disability
• axonal motor sensory neuropathy with deafness and mental retardation
• cowchock syndrome
• neuropathy, axonal motor-sensory with deafness and intellectual disability
• neuropathy, axonal motor-sensory with deafness and mental retardation
• neuropathy, axonal motor-sensory, with deafness and intellectual disability
• neuropathy, axonal motor-sensory, with deafness and mental retardation