Spinal Muscular Atrophy and Arthrogryposis

Abstract

Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at Dartmouth, Lebanon, NH.

Keywords

• anterior horn cell loss
• neurogenic arthrogryposis
• respiratory failure