AMC: Amyoplasia and distal arthrogryposis

Abstract

Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The common pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint involvement is predominantly in the hands and feet. In a Swedish study, 131 patients with arthrogryposis were investigated. The most frequent diagnoses were amyoplasia and DA. In amyoplasia, muscle strength was found to be more important than joint range of motion (ROM) for motor function. In DA, muscle weakness was present in 44 % of investigated patients. The clinical findings were found to be highly variable between families and also within families with DA. Fetal myopathy due to sarcomeric protein dysfunction can cause DA. An early multidisciplinary team evaluation of the child with arthrogryposis for specific diagnosis and planning of treatment is recommended. Attention should be directed at the development of muscle strength with early stimulation of active movements. Immobilization should be minimized.

Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach

“…The key to providing the appropriate care to individuals with AMC is to understand that AMC is an umbrella term (i.e., a term for a condition that groups many diagnoses) rather than a specific diagnosis. In fact, knowing that etiologies of AMC are variable and that associated impairments can be present, depending on the underlying cause, is important to direct individuals with AMC to the appropriate health care professionals for thorough and complete care (Binkiewicz‐Glińska et al, ; Kimber, ; Rink, ). So far, available definitions of AMC have been medically centered and revolve mainly around body system impairments.…”

“…Given the variability and complexity of AMC, individuals with it require a multidisciplinary approach for diagnosis and treatment to ensure complete care (Kimber, ). Research continues to evolve on diagnostic methods, classifications, and treatments (Bamshad, Van Heest, & Pleasure, ; Hall, ; Hall & Kiefer, ; Hall, Kimber, & van Bosse, ; Kowalczyk & Feluś, ; Lowry et al, ).…”

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

“…Lack of fetal movement leads to excess deposition of connective tissue around the joints, less stretching of tendons, and decreased mobility, eventually leading to joint contractures. The muscles of the affected limbs are mostly underdeveloped or hypoplastic, replaced partially or completely by fat and fibrous tissue, resulting in a tube‐shaped limb with a soft, doughy feeling (Haliloglu & Topaloglu, ; Kimber, ).…”

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

“…Individuals with DA present mainly with joint contractures in the hands and feet as well as other physical abnormalities specific to each syndrome. Prevalence of DA syndromes is not yet known (Kimber, ). Distribution and severity of joint contractures are detailed further under Sentence 4.…”