Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

Abstract

Arthrogryposes - multiple joint contractures - are a clinically and etiologically heterogeneous class of diseases, where accurate diagnosis, recognition of the underlying pathology and classification are of key importance for the prognosis as well as for selection of appropriate management. This treatment remains challenging and optimally in arthrogrypotic patients should be carried out by a team of specialists familiar with all aspects of arthrogryposis pathology and treatment modalities: rehabilitation, orthotics and surgery. In this comprehensive review article, based on literature and clinical experience, the authors present an update on current knowledge on etiology, classifications and treatment options for skeletal deformations possible in arthrogryposis.

Keywords: arthrogryposis; etiology; orthotics; rehabilitation; surgical treatment.

Figure 1

Clinical examples of multiple congenital contractures – arthrogryposis – in neonates

Figure 2

A clinical example of arthrogrypotic contractures involving upper limbs alone

Figure 3

Clinical examples of hand contractures in arthrogryposis

Figure 4

A, B. A clinical example of arthrogryposis with flexion contractures of the elbows, “clenched fist” deformities of the hands, knee dislocations, and bilateral congenital vertical talus

Figure 5

Skin ‘dimple’ overlying the knee joint

Figure 6

Antero-posterior standing spine radiograph demonstrating early onset scoliosis with significant thoracic and lumbar curve in 8 year old child with AMC

Figure 7

Examples of orthotic management for upper and lower extremities’ deformations in children with AMC: A – wrist-hand orthosis (WHO) correcting palmar flexion contracture; B – elbow and wrist orthosis increasing elbow flexion; C – knee-ankle-foot orthosis (KAFO); D – KAFO used for walking improving knee active extension

Figure 8

Clinical example presenting preoperative arthrogrypotic extension contracture of the elbow (A), intraoperative posterior capsulotomy, VY lengthening of the triceps brachii (B) and extent of surgically achieved passive elbow flexion (C)