A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases

Abstract

The case histories and clinical details of 141 children (67 males and 74 females) with chronic childhood spinal muscular atrophy (SMA) have been reviewed. Hundred of these children were alive at the time of the study. The cases comprise a consecutive unselected series of all with this disease who presented to two large English neurological centres over a 10-year tracing period. Chronic childhood SMA is defined here as a progressive disease of anterior horn cells with initial proximal selectivity, which does not of itself cause death before 18 months of age. Clinical signs are first manifest between birth and 8 years of age, but in 95% before 3 years. Cumulative frequency tables for motor skills are presented; 46% of children never walked, even with orthopaedic aids; 37.6% were able to walk unaided at some stage. No child was able to run after 12 years of age. Late-presenting sporadic cases retain motor skills longer than do familial cases. A sex influence on the clinical course of the disease has been demonstrated, males being more severely affected. Cumulative frequency curves for age-at-onset and age-at-presentation have been compiled. A sib of an affected index case, still clinically normal at 2 years of age, has passed 90 percent of his risk period; the use of such cumulative frequency curves for studies of carrier-frequency and incidence is discussed. The median age at death for this disease exceeds 10 years. The range encompassed by the clinical spectrum is discussed.