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. 2019 Jul 7;181(3):288–299. doi: 10.1002/ajmg.c.31721

Table 1.

Consensus‐based arthrogryposis multiplex congenita definition

Arthrogryposis multiplex congenita (AMC) is a term used to describe a group of congenital conditions characterized by joint contractures in two or more body areas. While the precise cause may be unknown for some individuals, causes are variable and may include genetic, parental, and environmental factors, as well as abnormalities during fetal development. Individuals with AMC have limited joint movement, with or without muscle weakness, in the involved body areas. Contractures vary in distribution and severity, do not progress to previously unaffected joints, but may change over time due to growth and treatment. Spinal deformities may be present at birth or develop throughout childhood and adolescence. Depending on the underlying diagnosis, other body systems such as the central nervous system (CNS), respiratory, gastrointestinal, and genitourinary systems may be affected. Cognition may be affected if the CNS is involved; sensation is usually intact. The impact on mobility, activities of daily living, and participation is variable.