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50% chance of inheritance from an affected parent.

What is Congenital Myotonic Dystrophy?

The beginning of your journey.

Congenital Myotonic Dystrophy is a genetic condition which presents itself in early childhood. It is a multi-systemic Neuromuscular disorder, under the umbrella of 'Muscular Dystrophy'.

Myotonic Dystrophy is hereditary, and if a child is born with CDM, one of the parents WILL have it. This is quite a daunting realisation, and if there is no prior knowledge if the disorder in the family, it can be a scary thing to come to terms with.

CONGENITAL MEANS 'AT BIRTH'

This is very important, as the diagnosis of Congenital DM is given if symptoms are apparent from birth. There are other variants of DM (Childhood onset, Adult onset, and DM2), however, Congenital DM is the most severe form.

MYOTONIC MEANS CONTRACTION OF MUSCLES.

Myotonia often presents itself in the hands, and is an inability to release grip, due to the contraction of the muscles. (with Congenital this is often one of the later symptoms)

DYSTROPHY REFERS TO THE WASTAGE OF MUSCLES.

 

There are many different effects of this disorder, no two people will present in the same way. Despite being the most common form of Adult Onset Muscular Dystrophy, it is still very rare. New information is being discovered all the time. Myotonic Dystrophy is actually twice as common as Huntingtons (an interesting statistic for you)

CDM is USUALLY inherited from the Mother, however, on rare occasions, it can be passed down Paternally. This is relatively new information, as previously it was believed only inherited Maternally. Current thinking is that there is less than a 1% chance of it being passed down from the father - however it does happen!  Unlike adult onset DM1/DM2 which can be inherited equally from both parents. 

A child with CDM is often, but not always, diagnosed at birth or fairly soon after. They will likely have spent some time in Neo-natal Intensive care, with help with breathing and feeding.

Once discharged/diagnosed, your child is likely to have many appointments with different specialists. Such as:

Speech and Language, Occupational Therapy, Physical Therapy, Ophthalmology, Sleep Clinic, Cardiology, and most importantly, a specialist Neurologist.

All of these appointments may seem daunting, but they are important. We are here to provide support, so please do not hesitate to contact us.

The Fight Fund and MDUK would strongly recommend reaching out to your local Neuromuscular Care Advisor. You can see a list of them HERE. If you would like any help with making this connection please do contact us and we will be happy to help. Having a Care Advisor really does help take some of the stress away from families, as they can help co-ordinate and support.

 

 

Click the image to be taken to the MDUK information sheet.