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Questions and Answers!

Sometimes its hard to read pages of information to find the answer to those questions you have. This page is a quick Q and A page.

If you have a question you'd like to see on this page - please email us and we will do our best to add it.



“How come we didn’t know Myotonic Dystrophy was in the family before now. Other children have been born, surely we would have known then?”

Answer: Myotonic Dystrophy is a very complex, genetic disorder. It has a unique way of presenting itself which is confusing and complicated. It is a progressive disorder, so often symptoms don’t show themselves until adulthood (Adult Onset DM) It is ALWAYS passed down to a child by one of the parents (50% chance, so previous children may not be affected, or may only be mildly affected and not show symptoms until teenage/adult years) It doesn’t miss generations, and you can’t simply be a ‘carrier’ – you either have the gene expansion or you don’t.

If your parent has DM, there is a 50% chance you will also. Even if you don’t show symptoms until you are older. Myotonic Dystrophy symptoms get worse with each generation due to ‘anticipation’.

When a person is diagnosed with Myotonic Dystrophy, it affects the whole family.

So, how come we didn’t know it was in the family until one member was diagnosed?

Answer: There seems to be 2 main ways this disease is diagnosed in a family, most often it seems to be through a severely affected baby (Congenital Myotonic Dystrophy) being born. The mother or father of the baby may be showing little or no symptoms, or may have been given other explanations for the symptoms they are showing. This is often a big shock to the family involved.

With every generation, the disease becomes more severe. It may only be slightly (which is why grandparents, uncles, parents etc. are showing very few symptoms) or it could take a big leap (which is why the new-born may be severely affected).

The symptoms and progress of the disorder cannot be predicted. All we know is, the ‘anticipation’ of the disorder means that each generation in a family will be more affected than the last. (I believe there is only one documented account of the expansion being less than that of the parent)

It is sometimes diagnosed the other way round too – when a mother or father hits adulthood or becomes elderly, and their symptoms get worse. They may be diagnosed, and then it is realised that any offspring may also have a 50% chance of having Myotonic Dystrophy.

So why are people not diagnosed earlier? This is the million dollar question. It often comes down to lack of awareness or experience with Myotonic Dystrophy amongst medical and support professionals. We often hear of people being mis-diagnosed or just told there is no medical reason for their deterioration, until one day they meet someone who has seen DM before.

This is one of the aims of Cure DM. Raising awareness of Myotonic Dystrophy is the first step to finding treatments and cures. It is a progressive disorder which gets worse throughout a persons life – we want to reach these people early!

How is Congenital Myotonic Dystrophy Inherited? Isn’t it just from the mum?

Answer: Congenital Myotonic Dystrophy is the more severe form of the condition, ‘Congenital' meaning ‘apparent at birth'.

There is some information on the internet which suggests that only a woman can parent a child with Congenital Myotonic Dystrophy. This is untrue. It was once believed to be the case, however over the last decade there has been more understanding of the condition, and more cases of Congenitally affected children being born (or documented as being born) from the Paternal side.

It is true, however, that it is still a rare occurrence. Congenital Myotonic Dystrophy is most often inherited maternally. There is, however a 13% chance that a father with Myotonic Dystrophy will parent a baby with CDM.

So, what are the chances of having a baby with CDM if you have the condition yourself? Unfortunately there is no straight answer to this. There is always a 50% chance of passing the gene on to your children (whether you be male or female), but the chances of that baby being born with the Congenital form isn’t something you can predict. It has no bearing on how severe the condition is within yourself, often a baby with CDM is born from a parent with no symptoms whatsoever.

However, if you do have Myotonic Dystrophy and would like to have children, it is possible to have PGD ‘Pre-implantation Genetic Determination’ which is a form of IVF. This is possible, free, on the NHS in the UK.

Dregan inherited CDM from his father. You can read his story here!