/Charcot-Marie-Tooth disease X-linked recessive 5

Charcot-Marie-Tooth disease X-linked recessive 5

Rare Disease

MONDO:0010699

Also Known As

CMT5XCMTX5Charcot-Marie-Tooth disease X-linked recessive type 5Charcot-Marie-Tooth disease, X-linked recessive, 5Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessiveCharcot-Marie-Tooth disease, X-linked recessive, type 5Charcot-Marie-Tooth neuropathy X type 5Charcot-Marie-Tooth neuropathy X-linked recessive 5Charcot-Marie-Tooth neuropathy, X-linked recessive, 5Rosenberg Chutorian SyndromeRosenberg-Chutorian syndromeX-linked Charcot-Marie-Tooth disease type 5familial opticoacoustic nerve degeneration and polyneuropathyoptic atrophy, polyneuropathy, and deafnessoptic atrophy, sensorineural hearing loss and polyneuropathy

Definition

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.