Arthrogryposis multiplex congenita in an adult patient cohort: What are the limitations in activities in daily life?

Abstract

Arthrogryposis multiplex congenita (AMC) is a clinical diagnosis characterized by the presence of at least two joint contractures at birth. Causes of AMC are numerous involving CNS, neuromuscular system, connective and bone tissue. This study is the first to describe disability patterns of a cohort of adults with AMC. Thirty-nine patients (age 33.8 ± 11.5 years; 23 females) underwent between 2010 and 2016 a 4 day evaluation in the PMR ward during the multidisciplinary consultations for AMC at the Reference Centre of Congenital Anomalies in Grenoble: 25 with amyoplasia, 8 with distal arthrogryposis (DA), and 6 with other atypical diseases. All underwent the following functional assessments: functional independence measure (FIM) scale, functional ambulance classification (FAC) modified, six-minute walk test (SMWT), and a battery of functional tests for the upper limb (reaching, grasping, and pinches). Most patients suffering from AMC had modified independence, with an average FIM= 113.8 ± 12.3 (min = 71, max = 126, median = 117). Nearly all subjects had satisfactory Cognitive-FIM (34.9, min = 33, max = 35), while motor items of the FIM were altered (motor-FIM =78.4, min = 36, max = 91) especially bathing (5.9), upper body dressing (5.7), lower body dressing (5.3), toileting (5.4) and stairs (5.3). Regarding mobility limitation, the mean FAC score was 6.1/8. Only 34 patients could complete SMWT, with a limited mean distance: 338.6 ± 134 m (min = 100 m, max = 700 m). Walking was a major activity limitation for many patients, 28 patients needed to walk slowly on plain ground with surveillance or technical aids, 3 patients couldn’t walk. Regarding the upper limb, they could achieve 11.0 ± 5.5 of 16 tasks testing reaching movements (min = 1, max = 16), and 17.9 ± 6.8 of 22 tasks testing bilateral fine hand and finger movements (min = 0, max = 22). Activity limitations tended to be less severe in patients with DA. Despite obvious disabilities, most persons with AMC can live independently with few technical aids and compensations. Rehabilitation options were proposed accordingly, and patients’ satisfaction for this expert evaluation was high.