Further Outpatient Care
Carefully monitor the patient, watching for postoperative complications.
Further Inpatient Care
Admit the patient for surgical intervention.
Transfer
Patients may need to be transferred for further diagnostic evaluation and surgical intervention.
Deterrence/Prevention
Identifying the causes of arthrogryposis remains vital for determining the management, prognosis, predicting recurrence risks and counselling couples. Early diagnosis allows for institution of appropriate investigations and offering patients informed choice including the option of termination if indicated. Multidisciplinary work by obstetricians, geneticists, neonatologists, and pediatric pathologists optimizes the chances of achieving a diagnosis and providing parents with accurate and appropriate information to enable them make informed choices with regards to their pregnancy. [43]
Recurrence risk depends on whether the contractures are extrinsically or intrinsically derived. Extrinsically derived contractures have a low recurrence risk, whereas the recurrence risk for intrinsically derived contractures depends on etiology. Arthrogryposis may be inherited in the following ways with different recurrence risks, and the patient and parents should know this information [44] :
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Autosomal dominant: Recurrence risk to offspring is 50% (eg, distal arthrogryposis).
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Autosomal recessive: Recurrence risk to offspring is 25%, and both parents are obligatory carriers (eg, lethal multiple pterygium syndrome).
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X-linked recessive: All daughters of affected males are carriers. Their sons have a 50% chance of being affected, and their daughters have a 50% chance of being carriers (eg, severe lethal, moderately severe, and resolving types of X-linked arthrogryposis).
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Multifactorial: Combined effects of multiple genes and environmental factors cause multifactorial traits. For most multifactorial diseases, empirical risks (risks based on direct observation of data) have been derived. For example, empirical recurrence risks of neural tube defects for siblings of an affected individual range from 2-5% in most populations.
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Mitochondrial: A small but significant number of diseases are caused by mitochondrial mutations. Because of the unique properties of mitochondria, these diseases display characteristic modes of inheritance (ie, inherited exclusively through the maternal line) and wide phenotypic variability. Only females can transmit the disease mutation to their offspring (eg, distal type IIB arthrogryposis).
Sporadic
For families in which a specific diagnosis cannot be made, the empiric recurrence risk to unaffected parents of an affected child, or to the affected individual with arthrogryposis, ranges from 3-5%.
Complications
The most common perioperative issues include difficulties with airway management, problematic intravenous access, and intraoperative hyperthermia.
Anesthesia can be difficult because vascular access is often restricted. Intubation may pose problems for patients with a small underdeveloped jaw, limited movement of the temporomandibular joint, or a narrow airway. [45]
Osseous hypoplasia, which is associated with decreased mechanical use in developing bone, is prone to fracture at multiple sites. Multiple perinatal fractures have been observed in osteopenic bones.
Prognosis
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.
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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
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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 [46]
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. [47]
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). [48]
Patient Education
See the list below:
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The birth of a child with arthrogryposis may be a catastrophic event for parents and family. They may experience anger, feelings of guilt, denial, disappointment, repulsion, or depression. Family members may have difficulty understanding or accepting the diagnosis, and they may have a tendency to look for magical answers. Family members may also be concerned about additional unrecognized malformations, risk of intellectual disability, and recurrence risk.
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The following up-to-date resources should be made available to families:
AVENUES
(A National Support Group for Arthrogryposis Multiplex Congenita)
PO Box 5192 Sonora, CA 95370
Phone: 209-928-3688
email: info@avenuesforamc.com
National Organization for Rare Disorders, Inc. (NORD)
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Phone: 800-999-6673
Fax: 203-798-2291
email: orphan@rarediseases.org
NIH/National Arthritis and Musculoskeletal and Skin Disease Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Phone: 301-495-4484
Shriner's Hospital for Children
Dr. Richard McCall
3100 Samford
Shreveport, LA 71103
Phone: 318-222-5704
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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.
