Frequently Asked Questions

I get a lot of cramping abdominal pain and bowel symptoms that my doctor says are due to ‘irritable bowel’. Could this be connected with my Myotonic Dystrophy?

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.

My father has had Myotonic Dystrophy for a long time and is now getting a lot of chest infections. Are these connected?

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.

I know that a lot of research is going on. Is it likely that this will result in a treatment that will help?

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.

Should I be on regular medicines?

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.

I have been told that anaesthetics and operations can be dangerous for people with Myotonic Dystrophy. Is this true? What can I do about this?

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 anaesthetist 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.

Are exercises or a special diet of any use in Myotonic Dystrophy?

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.

Is it all right to continue driving? Everyone tells me that I drive safely and it is important to help me continue working.

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.

I have been told that I should have regular heart tests. Why is this needed if Myotonic Dystrophy is a muscle disease?

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.