Abstract

Clinical heterogeneity within the group of spinal muscular atrophies (SMA) in children can pose practical problems of diagnosis, prognosis and genetic counselling. In addition to the classic forms, unusual cases have been described. Five children with an atypical type of SMA are reported, characterised by early involvement of cervical muscles contrasting with initially mild or absent affection of peripheral muscles. Secondary involvement of respiratory muscles was responsible for the death of three children in the second to fourth year. The disorder may be recessively inherited.