/Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4F

Rare Disease

MONDO:0013959

Also Known As

CMT4FCharcot-Marie-Tooth disease type 4 caused by mutation in PRXCharcot-Marie-Tooth disease type 4 caused by mutation in PrxCharcot-Marie-Tooth disease, type 4FPRX Charcot-Marie-Tooth disease type 4Prx Charcot-Marie-Tooth disease type 4Charcot-Marie-Tooth disease, demyelinating, type 4F

Definition

Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.