How DMD Works
The cause of DMD is a mutation in the largest known human gene known as the dystrophin gene. This gene contains 79 unique parts, any number of which can be missing, duplicated, or malformed in Duchenne. The dystrophy gene produces a protein called dystrophin that protects the muscles when they contract. Without this protection, muscles are damaged, weakened, and unable to repair themselves after normal use or injury.
This damage is not reversible. There is no fix.
How It Starts
Duchenne primarily affects males at a rate of 1 in approximately 5,000 boys born worldwide. The reason DMD manifests mostly in males (XY) and not females (XX) is that the dystrophin gene is found on the X chromosome. Females can be carriers and unknowingly pass a mutated dystrophin gene copy to their child in utero.
However, in one third to nearly one half of DMD diagnosed cases, mothers were not carriers and the mutation is spontaneous.
DMD's Effects & Stages
Children affected by Duchenne are typically diagnosed from investigation surrounding noticed delays or difficulties with walking, speech, running, jumping, getting up from the ground, behavior and emotional control, learning, and fatigue. Until age 7, natural growth is outpacing the disease and material impacts may not be noticeable. At age 7, however, natural growth stabilizes and the disease started to outpace functional gains.
While disease progression can vary, there are defined age ranges for major stages.
3-5 Years
Diagnosis occurs with further investigation surrounding noted delays or difficulties with development such as walking, speech, running, jumping, getting up from the ground, behavior and emotional control, learning, and fatigue.
5-10 Years
Trunk muscles are predominantly affected, leading to increased instability in walking, climbing and standing. Falls become more frequent and children move to manual wheelchairs part time for safety and fatigue purposes. Children face challenges in school with behaviors and ability to control emotions.
8-12 Years
Loss of any ability to walk occurs. Move to full time power wheelchair use. dependency on other for daily living needs.
13+ Years
Upper body muscles in shoulder and arms are impacted making it difficult to raise the arms and reach for items. Teenagers experience decrease heart and lung function and dependency on caregivers for daily living needs increases.
Financial Challenges
In addition to understanding the disease itself, it’s critical to understand the social and economic challenges a Duchenne diagnosis places on the patient and families who are faced with needing:
- Access to and funding for approved therapies through insurance
- Accessibility in homes and public (bathrooms, beds, lifts, ramps, doorways, hallways)
- Caregiver / personal care assistance
- Specialized approaches to learning through IEP and 504 plans
- Aid assistance in schools
- Wheelchair accessible transportation
- Access to and funds to travel to Duchenne care centers
- Flexible work schedules to accommodate various medical appointments
- Social acceptance and inclusion
Contact Us
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