The natural history of type I (severe) spinal muscular atrophy.

ABSTRACT

The clinical features of 36 patients who satisfied the diagnostic criteria for type I (severe) spinal muscular atrophy (Werdnig-Hoffmann disease) are reported. Survival data for both the whole cohort and for groups within the cohort subdivided on the age of onset are presented. These data suggest that the patients with onset at birth or within the first 2 months of life have a more uniformly poor prognosis with earlier death. This is of potential importance in any therapeutic trials in the future whose outcome may be based on length of survival.