Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal 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.
Also known as autosomal dominant Charcot-Marie-Tooth disease type 2F, Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1, CMT2F, HSPB1 Charcot-Marie-Tooth disease type 2 — per MONDO