What is myotonic dystrophy (MD disease)?
Myotonic dystrophy (MD) is a genetic muscle disease. In this disease, the muscles gradually become weaker and thinner. Also, some muscles can not relax properly after exercise. This feels like a kind of painless cramp.
In addition, the disease can lead to cataracts, cardiac arrhythmia and in the worst case to a mental handicap.
There are four types of MD. A very severe form, between two shapes and mild. Children of someone with MD often have a more severe form of the disease than their parents.
The disease is well establish with DNA testing. With prenatal diagnosis is to examine whether an unborn child has the disease.
MD is incurable. The treatment consists of exercises and, if necessary, medication or surgery to relieve symptoms. If the muscle weakness worse, tools may be required. For example, a wheelchair or walking aids.
Symptoms of myotonic dystrophy (MD disease)
There are four types of myotonic dystrophy (MD):
- Type I (mild form) begins after the fiftieth year. Patients often get cataracts. They have no or mild muscle complaints.
- Type II (adult form) begins between puberty and the fiftieth year. The muscles in the face, weakening the hands, the forearms and lower legs. The face is expressionless and hang the eyelids. Chewing and swallowing are difficult and patients often slurred. They are less convenient and foot shuffling and stumbling. Sometimes the muscles can no longer properly relax (myotonia). Later arise concentration problems and severe fatigue. Also gastrointestinal problems, lung problems, hormonal problems and heart arrhythmias occur. Thirty to have forty years after the onset of the disease will probably need a wheelchair. People with type II MD are on average aged between 45 and 65 years. The cause of death is often pneumonia (swallowing problems) and arrhythmia.
- Type III (the child's form) is created between the first year and puberty. Children do not always have muscle problems, but often learning difficulties and digestive complaints. Life expectancy is about the same as in type II.
- In type IV (the congenital form) a child is seriously ill at birth. Through breathing and swallowing difficulties dies 10 to 20% of these children within a year. 80 to 90% of these children to survive their first year though. They develop good and often first learn to walk. But later weaken the muscles anyway. Many of these children are mentally retarded and can not live independently. They are generally not older than forty years. This form occurs almost exclusively in children whose mothers also has MD.
Myotonic dystrophy is inherited?
Myotonic dystrophy (MD) is an autosomal dominant inherited disease. This means that if one parent has the disease, each child has a 50% chance that it will also get the disease.
The gene defect in MD is known: in this disease a little bit of an abnormal gene is often repeated. The number of repetitions determines the type. The more the sicker. As someone with MD, a child, that child may have a different number of repetitions. Usually, that there are (much) more. The child will then receive a worse type of MD or older. This unusual pattern of inheritance is called "anticipation".
Treatment for myotonic dystrophy (MD)
Myotonic dystrophy (MD) is not curable. Only the symptoms are treated.
To control heart rhythm and muscle stiffness (myotonia) are medications. If it is necessary you get a pacemaker to improve your heart rhythm. The drugs cause against myotonia sometimes arrhythmias and are therefore not always suitable for MD.
A doctor in a rehabilitation center can help you if you fall a lot and stumbles. An ankle-foot orthosis can make walking much easier.
In cataract surgery, the ophthalmologist can heal your cataracts.
Against fatigue are also medications. Ask your doctor which way is right for you.
The hope for the future is gene therapy. The first experiments with this MD are just beginning. It will take more than a decade before it can be optionally used.
Dealing with myotonic dystrophy (MD)
The more serious types of MD involving progressively weaker muscles. Therefore you will probably need tools. For example, a wheelchair or a walking aid. But perhaps also home modifications or adjustments to your work needs. An occupational therapist can these things together with you to find out.
For problems with speaking or swallowing can get help from a speech therapist.
By myotonic dystrophy (MD) you have a general anesthetic more likely to have problems than healthy people. This is due to weak respiratory muscles and potential cardiac arrhythmias. Also you by MD extra sensitive to certain painkillers and anesthetics.
If surgery is needed, the doctor looks together with the anesthetist or instead of general anesthesia, local anesthesia or an epidural is possible.