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

Am J Phys Med Rehabil. 2007 May;86(5):349-55. doi: 10.1097/PHM.0b013e31804b1d66.


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

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

Results: 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.

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

MeSH terms

  • Bradycardia / complications*
  • Candidiasis / complications*
  • Candidiasis / mortality
  • Child
  • Child, Preschool
  • Cryptorchidism / complications*
  • Female
  • Humans
  • Infant
  • Male
  • Medical Records
  • Pancreatitis / complications
  • Quality of Life*
  • Respiration, Artificial
  • Respiratory Tract Infections / complications
  • Retrospective Studies
  • Spinal Muscular Atrophies of Childhood / complications*
  • Spinal Muscular Atrophies of Childhood / physiopathology
  • Spinal Muscular Atrophies of Childhood / therapy
  • Surveys and Questionnaires
  • Survival Analysis
  • Tracheostomy