Duchenne Common Questions (FAQ)

Lack of dystrophin occurs due to an error in the dystrophin gene, this is found on the X chromosome. Because boys only have a single X chromosome, the error causes them to have Duchenne Muscular Dystrophy. On the other hand, girls tend to be carriers of the genetic error. However, a girl can get Duchenne Muscular Dystrophy but is extremely rare.

The error can be interested from a female character, but It can also by caused spontaneous genetic mutation. Therefore this can happen to anyone.

If you are worried that your child may have Duchenne or they have shown symptoms, visit a doctor. The following tests may be carried out:

• Blood test for DMD
• Genetic test for DMD
• Muscle biopsy for DMD

Generic testing can help determine whether or not a woman is a carrier. Speak to a doctor. It's important for all women in a Duchenne household to get tested if looking to have kids in the future. 

It's also important to understand that not all mother's of DMD are carriers. 30% of cases are caused by spontaneous genetic mutations. Once again, this can happen to anyone.

Each child deteriorates at different speeds, some faster than others. Normally symptoms show up around the age a toddler learns to walk. Some early symptoms include:

• Frequently falling
• Delay in movement and in the ability to sit and stand independently
• Difficulty running & jumping
• Using the Gower’s Manouevre to get up from the floor (using their hands and arms to “walk” up their own body from a squatting position). - Duchenneuk

Scoliosis is an another serious issue for Duchenne sufferers. This is when the spine starts to curve, this could potentially block the airways making breathing difficult. Surgery can be done to  the spine, however surgery can be avoided completely by ensuring the sufferer keeps their spine straight from the beginning. Good posture is key for example a wheelchair with a specialised backrest. Furthermore, the child could sit with it's back resting against a wall when sitting on their bed.

Although life expectancy may be low and there is no cure, people with DMD have been able to live until their 30s and 40s. Due to medicine advancements and technology, the life expectancy is increasing. Future treatments could include stem cell or gene therapy. Currently there are hundreds of clinical trials happening worldwide. One day we will find a cure. Having muscular dystrophy is not the end, and life can still be enjoyed to the fullest.