Physical handicaps may be severe. Intelligence is usually unimpaired or mildly abnormal. Other abnormalities occurring together with arthrogryposis include microcephaly, cleft palate, cryptorchidism, and cardiac and urinary tract anomalies. Diagnosis, Prognosis, and Treatment A thorough assessment should be made for any associated malformations. Electromyography and muscle biopsy are useful to diagnose neuropathic and myopathic disorders.
Muscle biopsy shows amyoplasia, with fatty and fibrous replacement of tissues.
Early orthopedic and physical therapy evaluations are indicated. Joint manipulations during the first few months of life may produce considerable improvement. Orthotics may be helpful. Surgery may be needed later to align the angle of ankylosis, but mobility is rarely enhanced. Incidence is highest in male infants, who often also have undescended testes.