We report a rare case of paternally transmitted congenital myotonic dy
strophy (DM). The proband is a 23 year old, mentally retarded male who
suffers severe muscular weakness. He presented with respiratory and f
eeding difficulties at birth. His two sibs suffer from childhood onset
DM. Their late father had the adult type of DM, with onset around 30
years. Only six other cases of paternal transmission of congenital DM
have been reported recently. We review the sex related effects on tran
smission of congenital DM. Decreased fertility of males with adult ons
et DM and contraction of the repeat upon male transmission contribute
to the almost absent occurrence of paternal transmission of congenital
DIM. Also the fathers of the reported congenitally affected children
showed, on average, shorter CTG repeat lengths and hence less severe c
linical symptoms than the mothers of children with congenital DM. We c
onclude that paternal transmission of congenital DM is rare and prefer
entially occurs with onset of DM past 30 years in the father.