Arthrogryposis

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

Background

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

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Pathophysiology

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 3000 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

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 central nervous system (CNS) dysfunction die in the first year of life.

Scoliosis may compromise respiratory function. A retrospective study by Li et al indicated that arthrogryposis patients with concomitant scoliosis have worse pulmonary function than do individuals with adolescent idiopathic scoliosis. In study patients with arthrogryposis/secondary scoliosis, mean values for forced vital capacity (%FVC), forced expiratory volume in 1 second (%FEV1), and the ratio of FEV1 to FVC (%FEV1/FVC) were 48.8, 45.3, and 92.1, respectively, compared with 70.3, 69.7, and 96.9, respectively, for subjects with adolescent idiopathic scoliosis. [6]

Race

No racial predilection has been described.

Sex

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

Age

Arthrogryposis is detectable at birth or in utero using ultrasonography.

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