Mutations of the gene encoding HSPB1 have been associated with different neuromuscular diseases; in particular, autosomal dominant hereditary distal axonal neuropathies, including Charcot Marie Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN). The gene discussed is HSPB1; the disease is Charcot-Marie-Tooth disease type 2.