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


METHODS
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.


CONCLUSIONS
Prolonged survival of SMA 1 results in a high incidence of concomitant medical conditions that need to be addressed.
Bach
John R
JR
Department of Physical Medicine and Rehabilitation and Neurosciences, UMNDJ New Jersey Medical School, Newwark, New Jersey 07871, USA.
D001919:Bradycardia / Q000150:complications*; D002177:Candidiasis / Q000150:complications* / Q000401:mortality; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008499:Medical Records; D010195:Pancreatitis / Q000150:complications; D011788:Quality of Life; D012121:Respiration, Artificial; D012141:Respiratory Tract Infections / Q000150:complications; D012189:Retrospective Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D011795:Surveys and Questionnaires; D016019:Survival Analysis; D014139:Tracheostomy