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Myotonic Dystrophy/Congenital Myotonic Dystrophy
Congenital myotonic dystrophy
Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease). Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth. It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form. Congenital means 'from birth' because the condition is usually identified at birth or soon after; myotonic means 'involving muscle stiffness'; and dystrophy is 'muscle wasting and weakness'.
Congenital myotonic dystrophy can vary considerably in severity from child to child. If a child is diagnosed with the condition soon after birth, symptoms are likely to be severe.
Operations and anaesthetics can be risky. It is very important that any surgeon and anaesthetist should know a child has congenital myotonic dystrophy before surgery is planned.
Inheritance patterns
The condition follows a 'dominant' inheritance pattern which means that, on average, half of the children of a woman with myotonic dystrophy will be affected themselves. It affects both sexes, but the mother is usually the affected parent. Congenital Myotonic Dystrophy does not occur in the rare type 2 muscular dystrophy or PROMM (Proximal Myotonic Myopathy) families.
Prenatal diagnosis
Prenatal testing may be available at an early stage of pregnancy.
Psychological and behavioural characteristics
Given the comments above regarding the significance of age at onset, it is unsurprising that the outcome for individuals with the congenital form of myotonic dystrophy is less favourable than that for the later onset form.
Most infants with congenital myotonic dystrophy show signs of early developmental delay. Babies may have difficulties in breathing, sucking and swallowing, and therefore in feeding. Muscle weakness may reduce facial expression and affect speech pronunciation. Acquisition of other self-care skills, such as toileting, can also be delayed.
In the longer term, most individuals display a learning disability, usually in the mild to moderate range.
Myotonic dystrophy
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