Arthrogryposis

Abstract

Arthrogryposis is non-progressive, congenital contractures of at least three joints in multiple body areas, occurring in 1 per 3,000–5,000 live births. Arthrogryposis is not a specific diagnosis, but rather a descriptive term. Clinically, arthrogryposis presents as three distinct types: classic arthrogryposis (amyoplasia), distal arthrogryposis, and syndromic arthrogryposis. Patients with classic arthrogryposis (amyoplasia) most commonly have lack of formation of normal musculature. The most common congenital contractures in the upper extremity are internal rotation of the shoulder with weak or absent shoulder girdle muscles; extension contracture of the elbow with weak or absent biceps and brachialis muscles; pronated, flexed, and ulnarly deviated wrists, with weak or absent wrist extension; and rigid digits with thumb and palm deformity. Distal arthrogryposis is a group of autosomal dominant disorders that mainly involve the distal aspects of the limbs, characterized by primary hand and foot involvement, limited involvement of proximal joints, and variable expressivity. Syndromic arthrogryposis includes multiple central nervous system (CNS) disorders or neuromuscular diseases, which include multiple congenital contractures. The goal of treatment for children with arthrogryposis is to improve their quality of life by facilitating functional independence. At birth, nonoperative measures are initiated, with range of motion exercises, muscle and joint stretching, and splinting of specific joints to improve passive range of motion. Treatment to improve the function of the upper limb requires comprehensive planning with simultaneous assessment of shoulder, elbow, wrist, forearm, and hand function.