Arthrogryposis

Updated: Mar 02, 2015
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Overview

Background

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  • Arthrogryposis, or arthrogryposis multiplex congenita (AMC), comprises nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. [1]
  • The term is currently used in connection with a very heterogeneous group of disorders that all include the common feature of multiple congenital joint contractures. [2]
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Pathophysiology

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  • The major cause of arthrogryposis is fetal akinesia (ie, decreased fetal movements) due to fetal abnormalities (eg, neurogenic, muscle, or connective tissue abnormalities; mechanical limitations to movement) or maternal disorders (eg, infection, drugs, trauma, other maternal illnesses). Generalized fetal akinesia can also lead to polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord.
  • During early embryogenesis, joint development is almost always normal. Motion is essential for the normal development of joints and their contiguous structures; lack of fetal movement causes extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movement and further aggravating the joint contracture. Contractures secondary to fetal akinesia are more severe in patients in whom the diagnosis is made early in pregnancy and in those who experience akinesia for longer periods of time during gestation.
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Epidemiology

Frequency

United States

  • The frequency is about 1 in 3,000 live births. [3, 4]

International

  • Arthrogryposis multiplex congenita is more common in isolated populations such as Finland and the Bedouin community in Israel. [5]

Mortality/Morbidity

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  • The life span of affected individuals depends on the disease severity and associated malformations but is usually normal.
  • About 50% of patients with limb involvement and CNS dysfunction die in the first year of life.
  • Scoliosis may compromise respiratory function.

Race

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  • No racial predilection has been described.

Sex

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  • Males are primarily affected in X-linked recessive disorders; otherwise, males and females are equally affected.

Age

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  • Arthrogryposis is detectable at birth or in utero using ultrasonography.
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