Charcot-Marie-Tooth disease axonal 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.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT2L
exact
Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8
exact
Charcot-Marie-Tooth disease type 2L
related
Charcot-Marie-Tooth disease, axonal, type 2L
related
HSPB8 Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2L
exact
SPBC3E7.02c SPCC338.06c