Catalog

Charcot-Marie-Tooth disease type 2L

No MMS code

Link to WHO Definition

Charcot-Marie-Tooth disease type 2L – http://id.who.int/icd/entity/1592118409

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.