Molecular Genetic Testing
Muscle Dystrophy, Type Duchenne and Becker (DMD)


Indication and Diagnostic Value

Infantile progressive muscular dystrophy Type Duchenne (DMD) is an X-linked inherited myopathy with significantly decreased life expectancy. Only boys are affected. DMD is caused by deletions (60%), duplications (5%) or point mutations (30%) in the dystrophin gene. The consequence is a lack of dystrophin in muscle cells. This results in the symptoms of early onset dystrophic alterations of the hip and tights, delayed statomotoric development, frequent stumbling and difficulties to rise up.
The inherited myopathy type Becker (BMD) is also caused by defects in the dystrophin gene. These defects still permit the partial synthesis of dystrophin, which results in milder symptoms and longer life span.

Samples and Test Method

EDTA blood is required.

Evaluation according to a symptomatic indication:

PCR based screening for disease causing deletions and duplications in the dystrophin gene. The test specificity amounts to about 98%.
Turnaround time for this test is 2 weeks.

Carrier status evaluation:

The mutation can be transmitted X chromosomal (from the mother) to her sun. The analysis comprises affected family members with known genetic alterations to compare them with the dystrophin gene of the patient suspected to carry a mutated gene.

Turnaround time for this test is 2-4 weeks independence on the number of tested persons.

→ list of Molecular Genetic Tests offered by IMMD


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