Practice Essentials
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] Imaging and histologic studies are useful in the evaluation of patients with arthrogryposis. No completely successful approach to treat the condition has been found.
Signs and symptoms of arthrogryposis
Limb deformities include pterygium, shortening, webs, compression (eg, due to cord wrapping), absent patella, dislocated radial heads, and dimples.
Facies deformities include asymmetry, flat nasal bridge, and hemangioma. Jaw deformities include micrognathia and trismus.
Other deformities include scoliosis, genital deformities (cryptorchidism, lack of labia, microphallus), and hernia (inguinal, umbilical).
Craniofacial malformations may involve the central nervous system (CNS) (structural malformations, seizures, intellectual disability), skull (craniosynostosis, asymmetry, microencephaly), eyes (small and malformed eyes, corneal opacities, ptosis, strabismus), and palate (high, cleft, submucous cleft).
Workup in arthrogryposis
Use photography to document the extent of deformities (range of motion and position of arthrogryposis) and to assess progress during treatment.
Use radiography to evaluate the following skeletal and joint abnormalities:
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Bony abnormalities (eg, gracile bones, fusions, extra or missing carpals and tarsals)
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Disproportionately short stature (ie, skeletal dysplasias)
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Scoliosis
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Ankylosis
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Absence of patella
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Humeroradial synostosis
Ultrasonography can help in evaluating the CNS and other viscera for anomalies. Computed tomography (CT) scanning can be used to evaluate the CNS and the muscle mass. Magnetic resonance imaging (MRI) can be used to evaluate muscle mass obscured by contractures.
Patients should undergo genetic evaluation and genetic workup that include, but are not be limited to, chromosome studies/comparative genomic hybridization (CGH) array analysis.
Muscle biopsy is probably the most important diagnostic procedure. It should be included in all autopsies and at the time of surgery.
Management
No completely successful approach to treat arthrogryposis has been found. Goals include lower-limb alignment and establishment of stability for ambulation and upper-limb function for self-care. Early, gentle manipulation soon after birth improves passive and active range of motion.
Early, vigorous physical therapy to stretch contractures is very important in improving joint motion and avoiding muscle atrophy. Patients with amyoplasia or distal arthrogryposis respond well to physical therapy, with excellent functional outcome. However, physical therapy may actually be harmful in patients with conditions of bony fusion such as diastrophic dysplasia, because it may lead to joint ankylosis. Recurrence of deformities following stretching is common, and surgery is often indicated.
If surgery is contemplated, early (age 3-12 mo) one-stage (bone and tendon transfer) surgery should be performed. Fine-tuning procedures, such as opponensplasty, may improve function at a later stage.
Specific joint problems should be addressed with regard to treatment of other joints and the goals for the patient. Soft-tissue surgery should be performed early, with osteotomies carried out when growth is completed. In soft-tissue release procedures, tenotomies should be accompanied by capsulotomies. Long-term bracing and assistive devices are usually needed.
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.
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 found 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]
A literature review by Cirillo et al indicated that in patients with arthrogryposis, adults have a greater tendency to experience pain than do children, with self reports of pain being more common in individuals in whom multiple corrective procedures have been performed. [7]
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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An infant with amyoplasia. Note internally rotated and adducted shoulders, fixed extended elbows, pronated forearms, flexed wrists and fingers, and severe talipes deformity.
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An infant with distal arthrogryposis type I. Note medially overlapping fingers, tightly clenched fists, and positional foot contractures.
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The hands of a patient with contractural arachnodactyly (Beals syndrome). Note the long, thin fingers with interphalangeal joint contractures.
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A girl with an autosomal recessive type of multiple pterygium syndrome. Note the multiple joint contractures at the knees with marked pterygia, including intercrural webbing, affecting her stance and ambulation.
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A mother and child both affected with trismus pseudocamptodactyly. Note the small mouth (with limited ability to open) and flexion contractures of fingers on dorsiflexion.
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Twins with a lethal type of autosomal recessive multiple pterygium syndrome. Note the multiple joint contractures with marked pterygia, cardiac and lung hypoplasia, and characteristic facies.
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An infant with a lethal type of multiple pterygium syndrome. Note multiple joint contractures with marked pterygia and a cystic hygroma on the posterior aspect of the head and the neck.
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The photograph on the left shows an infant with fetal akinesia. Note depressed nasal bridge, micrognathia, flexion contractures of elbows, bilateral clubhands, and arthrogryposis of fingers. The radiograph on the right shows an infant with fetal akinesia. Note gracile ribs; thin, long bones with multiple fractures at mid diaphyses of the humeri, distal diaphyses of the femora, and proximal diaphyses of both tibiae and left fibula; and clubhands.
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An infant with Pena-Shokeir syndrome. Note characteristic facies (ocular hypertelorism; short nose with depressed bridge; small and markedly recessed jaw; low-set, malformed ears), short neck, mild contracture at the hip, moderate contractures at elbows and knees, severe ankle contractures, and camptodactyly with ulnar deviation of the hands.
