arthrogryposis, distal, type 1A

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arthrogryposis, distal, type 1A

A form of distal arthrogryposis (OMIM:108120) characterised by congenital joint contractures primarily involving the distal extremities, in absence of a primary neurologic or muscle disease; camptodactyly, clubfoot, hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.

Molecular pathology
Caused by defects of TPM2, which encodes beta-tropomyosin, an actin filament-binding protein that binds to actin filaments in muscle and plays a central role in regulating striated muscle contraction.