Preferred Label : Charcot-Marie-Tooth disease type 2B;
ICD-11 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.;
Origin ID : 1425224652;
Automatic exact mappings (from CISMeF team)
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.
