I recently had a meeting with my school district because Jackson will be entering Kindergarten and I wanted to make everyone was aware of what Duchenne is and not overwhelm them with TONS of information. I feel like little doses of information is the best way to go, so I created some handouts to give to the teachers, principal, and others he will be working with. I only put some background info about DMD and also what issues he may have pertaining to his age (6 years) this coming year. The team seemed very excited about the handouts and learning about Duchenne!

About Duchenne

Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood,

affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year).

Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.

Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties. There is no cure.

Cardiac problems eventually occur with Duchenne and may start early or during the teenage years. Boys typically lose their ability to walk between the ages of 10-14 years old. By their late teens, young men lose the strength in their upper bodies, including the ability to move their arms and usually need help with breathing at night.Over time their breathing or respiratory systems weaken and they require constant support. Young men typically survive into their 20’s.

Physical symptoms

1. The boy will typically move slower or with more difficulty than other children his age.
2. He may appear clumsy and fall frequently, and have difficulty climbing, jumping, or running.
3. Because of his muscle weakness, he will become tired more easily, or will have low energy.
4. He may ask to be carried frequently, or need the use of a stroller for longer distances.
5. Some of his muscles (in particular his calves) may appear enlarged or overdeveloped. This happens because muscle cells are being replaced by scar tissue.
6. This process may also result in him being less flexible and having loss of elasticity in the joints (also known as contractures).

Transitional phase- 6 to 9 years old

During this time, a boy with Duchenne will have more and more difficulty walking as his quadriceps (muscles in front of the thighs) grow weaker. This causes him to be off balance as he shifts his weight while walking. He may walk on the balls of his feet or toes to stay balanced.

Trunk Weakness

In order to compensate for their weak trunks, a boy with Duchenne may stick out his belly and throw his shoulders back as he walks. When asked to stand, he will put his bottom up first and then use his arms for support by “walking” his arms up his legs until standing (Gower Maneuver).

Muscle Weakness

Although not apparent, he may begin to have heart problems requiring medication. Most have difficulty carrying books or other school materials (even when using a backpack).

Fatigue

Fatigue is very common and he may need the use of a stroller, lightweight wheelchair, or electric scooter for longer distances.