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.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2B
related
CMT2B
exact
Charcot Marie Tooth disease type 2B
related
Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A
exact
Charcot-Marie-Tooth disease, axonal, type 2B
related
Charcot-Marie-Tooth disease, neuronal, type 2B
related
Charcot-Marie-Tooth disease, type 2B
exact
HMSN2B
exact
RAB7A Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2B
exact
hereditary motor and sensory neuropathy 2 B (HMSN 2 B)
related
peripheral sensory neuropathy, autosomal dominant (PSN)
related
SPBC405.04c SPAPB1A10.10c