The heterogeneity of distal arthrogryposis

A study of distal arthrogryposis is described including neurology, electromyography, cerebral and muscular CT-scanning, and muscle and nerve biopsies. In four cases presenting with congenital distal contractures, various neuromuscular disorders were diagnosed. They were respectively, congenital myopathy with core-like structures, congenital hypertrophic neuropathy, axonal neuropathy and anterior horn cell disease. The role of cerebral disorders in the pathogenesis of distal contractures is also considered. The significance of abnormal dermatoglyphics in the determination of the prenatal time of onset of congenital myopathies and arthrogryposis is discussed. Our findings provide evidence for the hypothesis that distal arthrogryposis may not be a distinct clinical entity with an autosomal dominant inheritance pattern, but a symptom, indicating various cerebral, neuromuscular and connective tissue disorders, present in numerous congenital syndromes with different modes of inheritance. In addition the value of electromyography, nerve conduction velocity studies, muscle and cerebral CT-scanning, and histology of muscle and nerve biopsies in the differential diagnosis of (distal) arthrogryposis is stressed.