/Charcot-Marie-Tooth disease type 2B

Charcot-Marie-Tooth disease type 2B

Rare Disease

MONDO:0010949

Also Known As

CMT2BCharcot-Marie-Tooth disease type 2 caused by mutation in RAB7ACharcot-Marie-Tooth disease, type 2BCharcot-Marie-Tooth neuropathy type 2BHMSN IIBHMSN2BRAB7A Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2Bhereditary motor and sensory nueropathy IIBCMT 2BCharcot Marie Tooth disease type 2BCharcot-Marie-Tooth disease, autosomal dominant, type 2BCharcot-Marie-Tooth disease, axonal, type 2BCharcot-Marie-Tooth disease, neuronal, type 2BCharcot-Marie-Tooth neuropathy, type 2Bhereditary motor and sensory neuropathy 2 B (HMSN 2 B)hereditary motor and sensory neuropathy 2Bperipheral sensory neuropathy, autosomal dominant (PSN)

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.