/Charcot-Marie-Tooth disease axonal type 2F

Charcot-Marie-Tooth disease axonal type 2F

Rare Disease

MONDO:0011687

Also Known As

CMT2FCharcot-Marie-Tooth disease type 2 caused by mutation in HSPB1Charcot-Marie-Tooth neuronal type 2FCharcot-Marie-Tooth neuropathy type 2FHSPB1 Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2FCMT 2FCharcot Marie Tooth disease type 2FCharcot-Marie-Tooth disease type 2FCharcot-Marie-Tooth disease, axonal, type 2FCharcot-Marie-Tooth disease, neuronal, type 2FCharcot-Marie-Tooth neuropathy, type 2F

Definition

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.