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Myotonic Dystrophy/Congenital Myotonic Dystrophy
Myotonic dystrophy
People with myotonic dystrophy, like those with other muscular dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that myotonic dystrophy patients may have. These may include the following:
Operations and anaesthetics can be risky, even for mildly affected people. It is most important that any surgeon or anaesthetist should know a patient has myotonic dystrophy before surgery is planned.
An 'alert card' should be carried and is available from the UK Myotonic Dystrophy Support Group who also produce a valuable 'care sheet'.
Inheritance patterns
This condition follows a 'dominant' inheritance pattern which means that on average half of the children of an affected person are themselves affected. Both men and women are equally likely to be affected and to pass on the disorder, but affected women are more likely to have a severely affected child. In general (though not always) the disorder tends to be more severe in successive generations. This is because the mutation responsible for the condition (an expanded CTG repeat sequence) is unstable and tends to increase generation by generation. Healthy family members are not likely to pass on the condition, but should be thoroughly checked by an expert since minor features can easily escape detection.
Very few cases of myotonic dystrophy occur 'out of the blue.' Almost always, one parent proves to be affected, often very mildly. Careful study of the whole family often shows more members to be affected than would appear likely at first.
Prenatal diagnosis
In families known to have members with Myotonic Dystrophy, genetic testing is available which should be accompanied by full genetic counselling and clinical assessment. This permits accurate carrier detection and, if wished, prenatal diagnosis. Pre-implantation genetic diagnosis is becoming possible in a very few centres world-wide. A very small number of patients with similar features may show a different mutation - type 2 myotonic dystrophy or PROMM (Proximal Myotonic Myopathy).
Psychological and behavioural characteristics
The psychological characteristics of individuals with classical myotonic dystrophy may depend to some extent on their age at onset of symptoms. As noted above, age at onset is very variable and may itself represent variation in the size of the genetic anomaly. Also, the effects may be more severe if the condition is inherited from the mother rather than the father. In any case, the psychological effects of myotonic dystrophy are usually thought to be developmental rather than progressive.
Even in adult-onset cases there may be psychological problems in some patients. Visuospatial skills may be more affected than verbal abilities. Some individuals also experience memory problems.
Individuals with myotonic dystrophy can seem apathetic or lacking in motivation even if the muscular weakness is relatively mild. They are also at risk of developing emotional problems such as depression and anxiety, and of social withdrawal.
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