Frequently Asked Questions.  Click On The Question To Get The Answer.

The term "muscular dystrophy" covers a group of different muscle conditions with weakness and wasting; Myotonic Dystrophy is just one of these conditions. all the different types of muscular dystrophy differ in how they affect the muscles, which muscles they affect and which other parts of the body they affect.

No, if you were going to develop serious muscle problems you would almost certainly have done so before 60. Many relatives in the older generations of a family show cataracts as the only problem throughout their life, and remain healthy otherwise. Regular check ups should help to reassure you on this.

Myotonic dystrophy is also known as Steinert’s disease, myotonic muscular dystrophy or dystrophia myotonica. It is shortened as DM or MyD. There are also two types of myotonic dystrophy: type 1 and type 2. Type 1 is much commoner in the UK and is the type that has been known for longest. Type 2 has been discovered more recently and is also known as Proximal Myotonic Myopathy (PROMM) or Ricker’s disease.

Most people with Myotonic Dystrophy do not, but this could be a possibility if he is one of the minority whose weakness is already bad and is continuing to worsen. Even if he were to need one, it is important to look on aids as ways of keeping a person active and healthy. Sometimes a wheelchair can be very useful outdoors, over uneven ground and when long distances could be tiring.

Yes, you should certainly tell the school, as it will help them to know that he has a medical condition. Some of his problems may be due to poor speech from his face and jaw muscles being affected, daytime sleepiness or due to difficulties paying attention.. Where the condition has been present from early childhood there can be true learning difficulties, and he may need psychological testing to see if this is the case or not. He may be eligible for a statement of special needs which would allow him to have assistance with his schooling.

The heart is made of muscle, and can be affected, especially the part that conducts the heartbeat. Some patients develop an irregular heartbeat which may need specialist tests and treatment, and some develop a slow heartbeat because if slow conduction through the heart tissue. It can be picked up at an early stage by ECG, and this is advisable since it is simple and painless. There is no increased risk of having a "coronary thrombosis". The symptoms you might experience if you are having heart problems are blackouts, feeling faint, actually fainting, feeling dizzy, intermittently going very pale or having a feeling of your heart beating very fast or irregularly (palpitations). If you have any of these you should see your doctor about them.

Myotonic Dystrophy affects both sexes equally and can be passed on by both men and women. it is quite different in that respect from other muscular dystrophies, especially the duchenne type, which only affects males but is passed on by healthy females. Any child of an affected person has a 50% risk of inheriting the disorder. If a family member is unaffected and shown to be free of it by full testing, it is most unlikely to be passed on by that person.

You should seek expert advice before starting a pregnancy. There are genetic centres in all parts of the country where your questions (and those of your partner) can be answered and any necessary tests arranged. If your examination and tests (including new DNA tests for the gene) are normal, then the chance of developing Myotonic Dystrophy yourself or passing it on to your children will be very small indeed and you will not need tests in pregnancy. If you do prove to be mildly affected or to carry the gene, then tests in early pregnancy are possible if you wish, and they can be discussed in advance. It is also important for your own health to know if you are mildly affected (see risks of surgery).

It is probably best to leave well alone at present, if as you say, she has no symptoms or other features to suggest Myotonic Dystrophy. If you do have any concerns then a careful physical examination by an expert would be sensible. If this is entirely normal then most people feel that tests for the gene should be delayed until she is older and can understand the reasons since these would be genetic rather than medical. The exact age will of course vary depending on her own personality and maturity as well as on your family situation. In general it is felt that tests for the genes that might cause disease in later life are an area where people need to make up their own minds, rather than having parents decide for them. This is a difficult subject and needs careful thought.

This is the most severe form of Myotonic Dystrophy and often occurs when a parent (usually the mother) is only mildly affected. It is often fatal because the breathing muscles are poorly developed. Children who survive often have problems, though they may improve during childhood. The main problems for infants are breathing or swallowing difficulties. Older children will usually have a learning difficulty, but less problems with their muscles until they are adults. It could happen again and a further affected child would be likely to be severely affected. You are strongly advised to see your genetic counsellor about the risks of this and for advice about genetic testing.

Yes. When the Myotonic Dystrophy gene was isolated in 1992, it was found that affected patients showed a change (mutation), in one end of the gene which is indeed unstable. This change is the expansion of a series of three building blocks (a 'triplet repeat'), from just a few copies in normal people to several hundreds in Myotonic Dystrophy patients. Once the change is established it often (not always) increases because it is unstable. We believe that the expansion in the gene interferes with it working normally in muscle and elsewhere. The bigger the change the more it will interfere with the function, though this is too variable to be of much help in the outlook for any particular patient.

Yes, it is very important that anyone with Myotonic Dystrophy knows the risk, even those who are mildly affected or those who might have the condition but have not yet been tested. Your family doctor should be told and any surgeon and anaethetist who treat you. Leaflets on detailed precautions are available, as is a warning card to carry (from the Myotonic Dystrophy Support Group - see the services page). If an operation is really necessary, it should be carefully planned and done in hospital with a proper back-up. Most problems happen because doctors (and patients) are not aware of the possibility. The main problems are because the breathing muscles are weak and sensitive to anaesthetics and drugs used after surgery, as well as because of the disturbances of the heart rhythm.

No, provided that you are really free from any muscle abnormalities. It is probably wise to be checked physically every few years to be sure that mild features have not appeared. It is worth remembering that everyone carries genes that can cause or contribute to diseases in later life. The abnormal genes are present through out our life, but they are not harmful in themselves, only when the disease they produce is present.

No. Of course because it is so common in later life, it may occur by coincidence in a Myotonic Dystrophy patient.

They could well be. The breathing muscles are often weak which can result in a cold or throat infection 'going to the chest'. This can be helped by starting antibiotics promptly rather than waiting. In some patients material may 'go the wrong way' into the lungs during the night. This may mean that the swallowing as well as the chest will need investigation. Repeated chest infections should certainly be investigated fully.

This type of symptom is certainly very common in Myotonic Dystrophy patients and can be very troublesome. Because the muscle in the bowel wall can be affected it may well be related but it is not well understood. Drugs used for 'irritable bowel' can be helpful but if the problem is troublesome it should be thoroughly investigated, bearing in mind also that the cause may be completely seperate. Some patients also have a weak anal sphincter, making it difficult to hold back faeces. In children this may go along with severe constipation.

It could be. Anyone with weak muscles is going to have to put extra effort into daily activities. Some Myotonic Dystrophy patients (and their families) find daytime sleepiness a problem, but remember this could be for quite seperate reasons, such as anaemia.

No drug or other treatment at present alters the natural course of the condition but medicines may be advised for particular symptoms such as muscle stiffness (myotonia) or heart irregularity.

It is important to keep generally active but you should avoid anything that might cause injury or muscle strain. Very strenuous exercise would be unwise if a heart abnormality is present. So far as diet goes it is important to avoid putting on extra weight; this just means an extra burden for weak muscles to carry around. If you have swallowing problems you may need to adjust your diet so as to stop losing weight but there is nothing to suggest that any specific diet or vitamins will alter the disease itself.

Yes certainly continue if this is the case, though you may be asked to have examinations at intervals for your license to be continued or renewed. It is worth getting expert advice on choosing or adapting a car before it is actually needed.

Yes, though no one can be sure on the timing of this we know what change in the gene is in Myotonic Dystrophy and also what kind of protein it is that the gene makes in normal people - until a few years ago we knew nothing about either. Now many people are working on exactly how the change in the gene and protein result in the muscle disease; once we are clear about this there are going to be possible ways of trying to block or prevent the changes. It is still too early to say what kind of treatment this will be and any treatment will have to be tested very carefully in "trials" before we can be sure that it works. This will be difficult as Myotonic Dystrophy is so variable, but looking ahead it is reasonable to be more optimistic now that the we know more about the basic cause. It is worth remembering that the recent advances have been made possible by patients and families taking part in research towards treatment, even though it may not be you yourself that will benefit directly.