A form (OMIM:614436) of Charcot-Marie-Tooth disease* characterised by axonal degeneration without obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
*A disorder of the peripheral nervous system characterised by progressive weakness and atrophy, initially of peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies—designated CMT1 when they are autosomal dominant and CMT2 if they are primary peripheral axonal neuropathies.
Molecular pathology Defects of LRSAM1, which encodes a ring finger protein involved in various cell activities–e.g., regulating signalling pathways and cell adhesion, mediating self-ubiquitylation, and sorting endogenous and exogenous proteins, have been associated with Charcot-Marie-Tooth disease 2P.
Synonyms Charcot-Marie-Tooth neuropathy, CMT2P