Early predictors of poor outcome in congenital fiber-type disproportion myopathy
C. F. Torres and R. T. Moxley
Department of Neurology, University of Rochester, Medical School. NY.
We report the cases of eight children with histologic findings in the
muscle of congenital fiber-type disproportion myopathy. Five had severe
muscle weakness at birth; three of them died at 6 months, 18 months, and
6.5 years of age, respectively, and the other two are ventilator dependent
and need total care at 2.5 and 4 years of age. The five children with
severe weakness at birth had profound respiratory muscle weakness and
needed assisted ventilation since early infancy. They also had severe
facial and bulbar muscle weakness that required tube feeding, and four had
gastrostomy. Ptosis and marked external ophthalmoparesis were also noted.
Our study shows that the presence of the above constellation of signs at
birth or in early infancy is a predictor of a high rate of mortality in
infancy and poor developmental outcome in the survivors.
