SummaryTwo members of an Italian family are affected with progressive spinal muscular atrophy. One, a male, has had the disease since his early infancy and, though severely disabled, is still living at the age of 13. In his sister, the first symptoms appeared at the age of 15, and the disease seems to be rapidly advancing. Their parents were consanguineous. Their mother, however, married twice, her second marriage being nonconsan-guineous and producing no affected children.The study of this family and an analysis of the literature led to the following conclusions: (a) early onset of the disease does not necessarily mean that the course will be malignant; (b) the disease usually has a similar onset and course in subjects belonging to the same family.In many families, however (and these have been examined in the present paper) malignant Werdnig-Hoffmann disease is found to coexist with the Werdnig-Hoffmann disease with a prolonged course, the Wohlfart-Kugelberg-Welander disease with infantile onset, and the Wohlfart-Kugelberg-Welander disease with juvenile onset. We feel, therefore, that from a genetic point of view all these forms should be included into one and the same group.
Chronic generalized spinal muscular atrophy of infancy and childhood: Arrested Werdnig-Hoffmann disease