/Charcot-Marie-Tooth disease type 1F

Charcot-Marie-Tooth disease type 1F

Rare Disease

MONDO:0011902

Also Known As

CMT1FCharcot-Marie-Tooth disease type 1 caused by mutation in NEFLCharcot-Marie-Tooth disease, type 1FCharcot-Marie-Tooth neuropathy type 1FNEFL Charcot-Marie-Tooth disease type 1CMT 1FCharcot Marie Tooth disease type 1FCharcot-Marie-Tooth disease, demyelinating, type 1FCharcot-Marie-Tooth neuropathy, type 1F

Definition

A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..