Congenital Fibre Type Disproportion

Abstract

A case of a 4-9/12 years old boy with congenital fibre type disproportion is presented. The clinical picture consisted of severe muscular hypotonia and weakness, areflexia, underweight and kyphoskoliosis. Intercostal weakness, leading to cyanosis during sleep and repeated lung infections, necessitated tracheostomy and artificial respiration for periods of increasing length.