Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
Also known as autosomal dominant Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A, Charcot-Marie-Tooth disease, type 2B, CMT2B, HMSN2B, RAB7A Charcot-Marie-Tooth disease type 2 — per MONDO