Diagnosis Duchenne muscular dystrophy (DMD)

Most boys with Duchenne muscular dystrophy are not diagnosed until they start displaying symptoms, unless there is someone else in the family with the condition.

The first signs of Duchenne muscular dystrophy usually appear between the ages of one and three years and usually consist of problems with muscle function. Boys might start walking later than their peers, can fall more often or show difficulty running, jumping or getting up from the floor. They might have enlarged calf muscles.

Some boys with Duchenne muscular dystrophy have delayed speech development and this can be the first sign of the condition. If a blood test is done, high levels of a protein called creatine kinase (CK) are seen. CK is normally found in muscle but when muscles are damaged, such as in Duchenne muscular dystrophy, it leaks into the bloodstream.

The liver enzymes (aminotransferases, ALT and AST) are also often found to be high, as a consequence of muscle damage and not of a liver problem.

Duchenne muscular dystrophy has to be confirmed by genetic testing usually on a blood sample. Different types of genetic tests can provide specific and more detailed information about the DNA mutation.

Genetic confirmation is crucial. It enables families to make decisions about prenatal diagnosis in future pregnancies and for genetic testing to be available to other family members at risk of carrying the mutation in the dystrophin gene. Moreover, the genetic diagnosis will assist in determining if the boy qualifies for a number of clinical trials, which are currently running or are planned.

Your doctor may also recommend a muscle biopsy, which is the process of taking a small sample of muscle for analysis. Tests on the muscle biopsy can provide information on the amount of dystrophin protein present in the muscle cells.

These tests can also help in some cases to distinguish between Duchenne muscular dystrophy and a milder form of the condition, known as Becker muscular dystrophy. However, the clinical signs and the genetic test can usually distinguish between the two forms, without the need for a muscle biopsy.