Axonal Charcot-Marie-Tooth disease type 2L (CMT2L) is an autosomal dominant neuromuscular disorder characterized by muscle weakness and atrophy and sensory impairment of the distal lower and upper limbs resulting from a length-dependent axonal peripheral neuropathy. The lower limbs are predominantly affected, resulting in slowly progressive walking difficulties. Some individuals have involvement of the proximal lower limbs. Electrophysiologic studies are consistent with a axonal neuropathy, and muscle imaging shows muscle atrophy and fatty replacement in the lower limbs. Sural nerve biopsy shows loss of large myelinated fibers and abnormal axonal morphology (Tang et al., 2004; Nakhro et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). [from
OMIM]