has material basis in germline mutation in HSPB8 Charcot-Marie-Tooth disease axonal type 2L https://www.malacards.org/card/charcot_marie_tooth_disease_axonal_type_2l OMIM:608673 Orphanet:99945 SCTID:719513008 GARD:0012432 Charcot-Marie-Tooth disease, axonal, type 2L HSPB8 Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2L MEDGEN:324826 autosomal dominant Charcot-Marie-Tooth disease type 2L 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. UMLS:C1837552 Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8 DOID:0110174 MONDO:0012096 CMT2L Charcot-Marie-Tooth disease type 2