How is it assessed?
The diagnosis of these conditions is made clinically. The exact subtype or name of the condition will be determined by investigations. Investigations are used to confirm the diagnosis and give some idea of the prognosis. The tests carried out to confirm the diagnosis in these conditions are:
- Serum creatine kinase – this test measures the level of the muscle enzyme creatine kinase in blood. It is raised in most forms of muscular dystrophy. It does not confirm the diagnosis.
- Genetic testing – in Duchenne Muscular Dystrophy 60-80% of cases on dystrophin gene analysis will have an abnormality of the dystrophin gene and this will confirm the diagnosis. If the genetic test is normal this does not exclude the diagnosis, this is because the tests we have available are not sensitive enough to pick up small abnormalities of the dystrophin gene. In the other types an abnormality may or may not be found. In rare types of muscular dystrophy genetic testing can confirm the presence of suspected genetic abnormalities and confirm the diagnosis in some cases.
- Muscle biopsy – the muscle biopsy will confirm the presence of muscular dystrophy in all cases. In most cases it will confirm the type as well. In rare types special staining techniques will be used to determine which muscle proteins are abnormal. This will often enable a precise diagnosis of the type of muscular dystrophy the child has, giving useful information on prognosis of the condition.
