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

Table 2.

Sentences of the arthrogryposis multiplex congenita definition and expertise consulted

Overall sentence Complete sentence Expertise consulted for each sentence
Sentence 1: general description of arthrogryposis multiplex congenita (AMC) AMC is a term used to describe a group of congenital conditions characterized by joint contractures in two or more body areas Epidemiology, genetics, and orthopedics
Sentence 2: causes 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 Genetics and neurology
Sentence 3: impact on joints and muscles Individuals with AMC have limited joint movement, with or without muscle weakness, in the involved body areas Plastic surgery and orthopedics
Sentence 4: evolution of the clinical presentation Contractures vary in distribution and severity, do not progress to previously unaffected joints, but may change over time due to growth and treatment Physiotherapy, plastic surgery, and dentistry
Sentence 5: impact on the spine Spinal deformities may be present at birth or develop throughout childhood and adolescence Orthopedics
Sentence 6: impact on other body systems Depending on the underlying diagnosis, other body systems such as the central nervous system (CNS), respiratory, gastrointestinal, and genitourinary systems may be affected Neurology, genetics, epidemiology, and dentistry
Sentence 7: impact on cognition and sensation Cognition may be affected if the CNS is involved; sensation is usually intact Neurology and orthopedics
Sentence 8: impact on function The impact on mobility, activities of daily living and participation is variable Lived experience, genetics, occupational therapy, and dentistry