/Charcot-Marie-Tooth disease X-linked recessive 4

Charcot-Marie-Tooth disease X-linked recessive 4

Rare Disease

MONDO:0010689

Also Known As

CMT4XCMTX 4CMTX4COWCKCharcot-Marie-Tooth disease X-linked recessive type 4Charcot-Marie-Tooth disease with deafness and intellectual disabilityCharcot-Marie-Tooth disease with deafness and mental retardationCharcot-Marie-Tooth disease, X-linked recessive, 4Cowchock syndrome, X-linked recessiveNADMRNAMSDX-linked Charcot-Marie-Tooth disease type 4axonal motor sensory neuropathy with deafness and intellectual disabilityaxonal motor sensory neuropathy with deafness and mental retardationcowchock syndromeneuropathy, axonal motor-sensory with deafness and intellectual disabilityneuropathy, axonal motor-sensory with deafness and mental retardationneuropathy, axonal motor-sensory, with deafness and intellectual disabilityneuropathy, axonal motor-sensory, with deafness and mental retardation

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.