Medical considerations of long-term survival of Werdnig-Hoffmann disease

To report intercurrent nonrespiratory complications of unprecedented survival for Werdnig-Hoffman disease (spinal muscular atrophy type 1 [SMA 1]).

A retrospective chart review and caregiver questionnaire for 103 consecutively referred SMA 1 patients for whom death was prevented during infancy.

Overall, 15 of 63 (23.8%) respondents had severe, symptomatic bradycardias. Thirteen of 25 males had bilateral cryptorchidism, and two were unilateral. Ten of 42 (24%) respondents had recurrent oral candidiasis, and eight (19.0%) had recurrent nonoral candidiasis. All patients had hip dislocation/subluxation. They had collapsing spines and scoliosis by 1 yr of age. Ninety-six had indwelling gastrostomy/nasogastric tubes before 24 mos of age. Twenty-six underwent fundoplication to decrease reflux. Fifty-seven were on modified elemental diets with reported benefits. About one half had early pubarche. Three patients had episodes of acute pancreatitis. One untreated patient died of candidal endocarditis at 4 mos of age, and a second child had mitral valve candidiasis on autopsy.

Prolonged survival of SMA 1 results in a high incidence of concomitant medical conditions that need to be addressed.