Charcot-Marie-Tooth disease type 2A (CMT2A)

Charcot-Marie-Tooth disease (CMT) is a sensory and motor polyneuropathy caused by the alteration of genes responsible for the formation and/or functioning of neuronal proteins (axon or myelin). Some of those genes and their respective roles are still unknown to date. CMT2A, thus representing the most frequent subtype of CMT2 diseases, is caused by mutations in the mitofusin 2 gene (MFN2). The MFN2 gene is codified for a protein localized in the mitochondrial outer membrane involved in mitochondrial fusion.

CMT2A is an autosomal dominant inheritance disease characterized by progressive muscle weakness, associated with atrophy, loss of sensation and motor difficulties. The most debilitating  features for patients are mainly determined by the dysfunction of the axons of motor neurons which results in progressive muscle paralysis.

The phenotypes described show a remarkable diversity for severity and clinical manifestations (in some cases also with Central Nervous System involvement), but in most cases there is a peripheral sensory-motor involvement.

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