Arthrogryposis Arthrogryposis multiplex congenita (AMC) Arthrogryposis Congenital joint contractures in two or more areas of the body. Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints.

AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic. * Amyoplasia : severe joint contractures and muscle weakness. * Distal arthrogryposis mainly involves the hands and feet. Primary neurological or muscle disease belong to the syndromic group.

* 84% all limbs * 11% only the legs * 4% only the arms shoulder (internal rotation), wrist (volar and ulnar), hand (fingers in fixed flexion and thumb in palm), hip (flexed, abducted and externally rotated, frequently dislocated), elbow (extension and pronation) and foot (clubfoot).

Pulmonary hypoplasia, cryptorchidism, congenital heart defects, tracheoesophageal fistulas, inguinal hernias, cleft palate, and eye abnormalities. Causes : Genetic and environmental factors Any factor that curtails fetal movement can result to congenital contractures The exact causes of arthrogryposis are unknown.

Extrinsic factors: Decreased intrauterine movement, oligohydramnios (low volume or abnormal distribution of intrauterine fluid), and defects in the fetal blood supply Hyperthermia, limb immobilization and viral infections. Myasthenia gravis The major cause in humans is fetal akinesia Intrinsic factors: Molecular, muscle- and connective tissue development disorders or neurological abnormalities.

Diagnosis : Routine ultrasound scanning showing a lack of mobility and abnormal position of the foetus 4D ultrasound Physical examination MRI Muscle biopsy

Treatment : Occupational therapy Physical therapy Surgery The goals of treatments: Increasing joint mobility, muscle strength The development of adaptive use patterns for walking * I ndependence with activities of daily living. The treatment varies between patients depending on the symptoms.

手術前 足踝畸形 兩階段 手術後

Conclusions: A common birth defect and are associated with morbidity and economic burden. Identify the etiology and understand the pathogenesis are an important area of pediatric health-care research. The distal arthrogryposes are autosomal dominant disorders. Genetic or environmental factors Congenital contractures remains an active area of investigation

Q & A Dr. 熊永萬 Dr. Bear