Arthrogryposis Multiplex Congenita

Abstract

Arthrogryposis multiplex congenita (AMC) is a term that is used to describe the presence of multiple joint contractures at birth. AMC can be seen singularly or in conjunction with other abnormalities. Historically, the term arthrogryposis was used as a disease diagnosis, but it is now clear that AMC is not a disease entity but a syndrome, involving a manifestation of many fetal and neonatal disorders of the neuromuscular system. Its etiology is multifocal, and there is a wide variation in the degree to which muscles and joints are affected. Early identification and implementation of a plan of therapy are essential. The purpose of this article is to provide an overview of the AMC 'syndrome, specifically, clinical features, etiology, diagnosis, therapeutic interventions, family support, and outcomes.

Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures

“…In this case, patient's symptoms were not only multiple contractures of joints, but also scoliosis, ptosis, pterygiums (on neck, elbows, wrists, and fingers), and muscular hypoplasia. Treatment must be planned according to the patient; long-term rehabilitation programs at home should be explained to the patients and caregivers [5]. Multidisciplinary approach is essential for the treatment; splints or serial casting, passive stretching, and range of motion exercises are particularly effective in the treatment of contractures [2, 12].…”

“…The etiology of the disease is unclear. Although several factors are accused, most frequently the absence of fetal movement is shown as the cause of the disease [2–5]. AMC affects mainly the extremities and it might also be involved in the other organs [2, 4].…”

Obstetric outcomes in women who sustained a spinal cord injury during pregnancy

“…6 Multiple causes are associated with AMC, including intrauterine vascular compromise (for example, severe blood loss), maternal teratogenic exposure (hyperthermia, infection, medications, alcohol, cocaine), maternal illness (for example, multiple sclerosis), genetic disorder of the foetus (for example, skeletal dysplasia) or extrinsic factors (for example, oligohydramnios). 7 Reduced foetal movement and contractures (for example, talipes) seen on prenatal ultrasound are suggestive of AMC. 6 Profound hypotension at the time of the SCI was probably the major cause of CP in case 1, as talipes were noted on ultrasound at 13 weeks, however, the fever at the time of delivery may have been an additional insult.…”

The Social Coping Experiences of a Female Child with Arthrogryposis Multitplex Congenita Shared by her Parents

“…As has been stated by Shrout (1994), in the case of AMC, the individual's limbs are fixed in a particular position, with some or all of the joints involved, meaning that the limbs could be turned inwards, making their functionality and movement problematic. As has been highlighted by O'Flaherty (2001), AMC was initially recognised as a disease; subsequently, however, it became classified as a syndrome impacting babies' neuro-muscular systems throughout the pre-natal development phases. Also from the perspective of O'Flaherty's (2001), it is believed that AMC should be recognised as a syndrome and not as a disease.…”

“…As has been highlighted by O'Flaherty (2001), AMC was initially recognised as a disease; subsequently, however, it became classified as a syndrome impacting babies' neuro-muscular systems throughout the pre-natal development phases. Also from the perspective of O'Flaherty's (2001), it is believed that AMC should be recognised as a syndrome and not as a disease. With this noted, it is stated that AMC 'is a condition often poorly understood in terms of its cause' (Fixsen, 2010, p. 183).…”