Congenital myotonic dystrophy is a rare condition that affects both males and females. It is the early childhood form of myotonic dystrophy (also known as Steinert's disease). Congenital means 'from birth' which is when the condition is usually identified; 'myotonic' means 'muscle stiffness' and 'dystrophy' means 'muscle wasting and weakness.

A baby born with congenital myotonic dystrophy often has problems with breathing after delivery and may need help from a ventilator. The baby is often floppy because they have poor muscle tone so it's important that physiotherapy should be practised on him or her from a young age as this helps breathing and lung function. Muscle tone does often improve with age.

The motor and intellectual milestones (such as sitting up unaided and learning to read) tend to be delayed and the child may have speech difficulties. On the physical side, the child may have club feet (talipes) which, again, can be improved with physiotherapy.

The condition is inherited in an autosomal dominant pattern.

Congenital myotonic dystrophy can vary considerably in severitybetween children, even within the same family.

Return to the Congenital myotonic dystrophy home page.