Charcot-Marie-Tooth disease type 2B

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: CMT2B, Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A, Charcot-Marie-Tooth disease, type 2B, HMSN2B, RAB7A Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2B, CMT 2B, Charcot Marie Tooth disease type 2B

9 clinical trials for this condition and its sub-types, 0 tagged with Charcot-Marie-Tooth disease type 2B itself.