/Charcot-Marie-Tooth disease axonal type 2L

Charcot-Marie-Tooth disease axonal type 2L

Rare Disease

MONDO:0012096

Also Known As

CMT2LCharcot-Marie-Tooth disease type 2 caused by mutation in HSPB8Charcot-Marie-Tooth neuropathy axonal type 2LHSPB8 Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2Lautosomal dominant axonal Charcot-Marie-Tooth disease type 2LCharcot-Marie-Tooth disease type 2LCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2LCharcot-Marie-Tooth disease, axonal, type 2LCharcot-Marie-Tooth neuropathy, axonal, type 2L

Definition

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.