The effect of genetical factors on the risk of carpal tunnel syndrome occurrence: a review

Andrzej Żyluk


Carpal tunnel syndrome (CTS) is the most common compression neuropathy in the upper limb. Mechanical compression and local ischemia of the median nerve result in paresthesia, pain, and sensory and motoric disturbances. There are some aspects of the disease that suggest the potential role of genetic predispositions. This article presents a review of the literature about the significance of genetic factors in the etiology of CTS. It discusses the effect of selected gene mutations on constitutional and anthropometric features which may predispose to CTS. These genes are involved in the organization of an extracellular matrix
architecture, as well as in bone, cartilage, and tendons development pathways. Therefore they may be potentially responsible for the observed relationship between anthropometric/constitutional factors and CTS.
The findings from the studies provide reliable information on the association between genetic risk factors and the development of CTS.


carpal tunnel syndrome etiology; carpal tunnel syndrome – genetic predispositions; collagen synthesis; ADAMTS genes; COL genes

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