Charcot-Marie-Tooth disease type 2C
Charcot-Marie-Tooth disease type 2CAn autosomal dominant axonal form (OMIM:606071) of Charcot-Marie-Tooth disease, which is a disorder of the peripheral nervous system characterised by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups based on electrophysiology and histopathology: primary peripheral demyelinating neuropathies (CMT1) and primary peripheral axonal neuropathies (CMT2). CMT2 neuropathies are characterised by axonal regeneration in absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
Defects in TRPV4, which encodes a nonselective cation channel that is thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.