Neurological problems
Catherine Nelson-Piercy in Handbook of Obstetric Medicine, 2020
The congenital syndrome includes: Severe generalized hypotonia and weakness.Difficulties in breathing, sucking and swallowing.Talipes.Arthrogryposis.Learning difficulties.Myotonia and cataracts are usually absent.
Neuromuscular disorders
Ashley W. Blom, David Warwick, Michael R. Whitehouse in Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Considering arthrogryposis as a whole, the conditions can be placed in three major categories: Those with total body involvement — typified by the condition formerly known as arthrogryposis multiplex congenita and now termed amyoplasia, but also including other congenital disorders showing widespread joint contractures.Those with predominantly hand or foot involvement — conditions with joint features similar to those of amyoplasia but usually limited to distal joints (wrists, hands, feet) and therefore termed distal arthrogryposis; included also are more severe types of distal myopathy such as the Freeman-Sheldon syndrome in which there are, in addition, abnormal facial features (the ‘whistling face syndrome’).Pterygia syndromes — conditions characterized by arthrogrypotic joint contractures with identifiable soft-tissue webs, usually across the flexor aspects of the knees and ankles (Figure 10.42).
Hands
Tor Wo Chiu in Stone’s Plastic Surgery Facts, 2018
Approximately 1 in 3000 live births are affected by arthrogryposis multiplex congenita. This is the presence of bilateral symmetric joint contracture affecting at least two areas (i.e. multiple), joints that are non-progressive and are associated with (intrauterine) motor unit defect with muscle wasting (and replacement with inelastic fibrofatty tissue). The lack of movement means that there are no flexion creases; sensation is normal. There is a characteristic posture: Shoulder internal rotation and adductionElbow extension, forearm pronationWrist and finger flexionThumb clasped into palmLower limbs – hip dislocation, knee subluxation and club feet
Design and development of the first exoskeletal garment to enhance arm mobility for children with movement impairments
Published in Assistive Technology, 2018
Martha L. Hall, Michele A. Lobo
The participants in this project were a 23-month-old with impaired bilateral arm function due to a diagnosis of arthrogryposis and his parents. This child had a history of muscle fibrosis, decreased muscle mass, and symmetrical contractures in his shoulders, elbows, hips, knees, and ankles. As a result, even after stretching restored functional passive range of motion in his arms, he could not fully lift his arms (shoulder flexion) or bend his elbows (elbow flexion) against gravity. The child was able to sit, transition from sitting to lying down, and roll on the floor independently. The child exhibited many typical cognitive abilities for his age, such as recognizing and seeking out his family, requesting desired toys, and cause–effect learning. Without assistance, the child could reach for and contact objects at his hip level, but could not actively move either arm against gravity into more than 15 degrees of shoulder flexion, and thus could not contact objects at chest or eye level. This article focuses on design process and device outcome, while impact of the Playskin LiftTM on function for this participant is more thoroughly detailed in Lobo and colleagues (2016).
Treatment considerations in myasthenia gravis for the pregnant patient
Published in Expert Review of Neurotherapeutics, 2023
Arthrogryposis is another rare condition that can appear in children of MG mothers. The skeletal abnormalities and joint contractures are caused by restricted movements in utero. Mothers’ AChR antibodies bind to the fetal type of AChR with gamma subunits [76]. MG is not a dominating risk factor for arthrogryposis in children [77]. A previous child with arthrogryposis or fetal AChR inactivation syndrome represents a strong risk factor in MG [60,76]. We recommend that all MG women who have given birth to a child with any of these conditions are treated with plasma exchange or IvIg shortly before and during all next pregnancies. If there are any signs of arthrogryposis or reduced fetal movements during the pregnancy at ultrasound or other examinations, plasma exchange or IvIg treatment should be started immediately to reduce the AChR antibody concentration in mother and child.
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders
Published in Disability and Rehabilitation, 2020
Caroline Elfassy, Vasiliki Betty Darsaklis, Laurie Snider, Cynthia Gagnon, Reggie Hamdy, Noemi Dahan-Oliel
Despite early intervention and the non-progressive nature of the condition, recurrence of joint contracture is common, particularly in skeletally immature patients [7]. Although early and continued intensive rehabilitation is justified for children with AMC and advocated by many researchers, very few studies have documented the rehabilitation process and services required for children with AMC and their families [11,12]. Indeed, the Second International Symposium on Arthrogryposis held in St-Petersburg in 2014 indicated an urgent need for guidelines to be developed regarding various therapies [12]. As such, no rehabilitation guidelines or practice recommendations currently exist to inform best clinical practice for this population.
Related Knowledge Centers
- Clubfoot
- Congenital Heart Defect
- Cryptorchidism
- Fibrosis
- Hemangioma
- Pulmonary Hypoplasia
- Contracture
- Amyoplasia
- Rocker Bottom Foot
- Freeman–Sheldon Syndrome