Healthy Living

The Different Ways of Testing for Duchenne and the Appearance of a New Method

Diagnosing Duchenne

Right now, the most popular way to determine a correct diagnosis regarding Duchenne is muscular biopsy, directly extracting a small part of the muscular tissue and analyzing it.  Total absence of dystrophin is in most cases caused by Duchenne.

Other signs of Duchenne are muscular fibers with necrosis, an increase on the level of fat and connective tissues, same that replace dead tissue. In order to confirm diagnoses, studies are done using electric stimulation (electromyography).

Using different methods for genetic detection, laboratories are able to confirm the presence of Duchenne. Once the biopsy has been done and the sample is extracted, it is submitted to different techniques such as the PCR multiplex in order to determine different alterations that may have happened in the past (such as deletions, duplications and mutations).