What is the prognosis of arthrogryposis multiplex congenita (AMC)?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Answer

In neonates, ventilator dependence is associated with a poor prognosis. Prenatal factors that potentially predict respiratory insufficiency include decreased fetal movements, polyhydramnios, micrognathia, and thin ribs. Developmental milestones often are delayed because of limitations of movement.

Some patients develop skeletal changes secondary to the original deformities; these may include scoliosis and deformed carpal and tarsal bones, and they worsen the patient's overall condition. Limbs may undergrow after long-standing contractures. External genitalia are often abnormal (eg, cryptorchidism, absent labia majora) because of abnormal hip position.

Prognosis depends on whether defects are intrinsically or extrinsically derived. Extrinsically derived contractures carry an excellent prognosis, whereas intrinsically derived contractures carry a prognosis that depends on the etiology.

Prognosis also depends on the condition's natural history and the patient's response to therapy.

  • Natural history

    • Developmental landmarks (attainment of motor, social, and language milestones)

    • Growth of affected limbs

    • Progression of contractures

    • CNS damage (lethal, stable, improving)

    • Asymmetry of contractures (improving, worsening)

    • Changes in trunk or limbs

    • Intellectual ability

    • Socialization

  • Response to therapies

    • Spontaneous improvement

    • Response to physical therapy

    • Response to casting

    • Types of surgery at appropriate time

    • Development of motor strength proportionate to limb size [40]

Despite severe handicaps, the prognosis for most children with normal intelligence may be good enough to allow for independent, productive lives. However, many remain partially dependent on others, such as parents, relatives, and government subsidy. Dependency is related more closely to personality, education, and overall coping skills than to the degree of physical deformity.

Properly sequenced corrective surgical procedures are required to maximize musculoskeletal function.

In addition to appropriate surgical correction, good family support, a proper educational environment, and promotion of independence at an early age are required to achieve maximal function.

A study by Nouraei et al that looked at long-term outcomes with regard to function and mobility in people with arthrogryposis found that 75% of the study’s participants lived on their own or with a partner, as opposed to with family members. The respondents, which included 177 individuals from more than 15 countries, were also almost three times more likely than the general population of the United States to possess a graduate degree. However, physical function scores were lower in persons with arthrogryposis than in the general US population, although scores were similar or greater for other quality-of-life domains of the 36-Item Short Form Health Survey (SF-36). [41]


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