Duchenne Muscular Dystrophy Awareness Week

Observed in February, Duchenne Muscular Dystrophy (DMD) Week is all about calling attention to DMD, supporting affected families, raising money to help the victims and advancing research in DMD medication. Duchenne Muscular Dystrophy is one of nine types of muscular dystrophy, a genetic disorder that causes progressive muscle degeneration and subsequently, weakness. This loss of muscle mass is brought about by abnormal genes or mutations that interfere with dystrophin—a protein that helps form healthy muscles. What’s more, DMD is more prevalent in young boys and the symptoms manifest from age three to five.

Stages of DMD

As noted earlier, muscle loss in Duchenne victims can be detected from childhood. Symptoms to look out for include loss of strength, function and flexibility, especially in the hips, thighs, pelvis or shoulders. Moreover, affected children may appear to have large calves due to muscles in the legs being replaced with less malleable, bulky scar tissue and may need help getting on their feet. However, after diagnosis, the condition progresses through four stages: early ambulatory, late ambulatory, early non-ambulatory and late non-ambulatory. 

Early Ambulatory

While the symptoms are few and may go unnoticed at the early ambulatory stage, you may observe that the child has difficulty climbing stairs or keeping up with their peers on the playground. Children will also tire faster than others and may experience achy leg muscles.

In the event where you may be caring for a child displaying DMD symptoms, it’s recommended that you consult a neuromuscular expert in addition to a physical therapist (PT) or physical medicine and rehabilitation (PMR) doctor for treatment. While physical or occupational therapy is recommended, the responsible dosage of steroids (corticosteroids) are also proven to help reduce muscle weakness and are the only medications approved to treat Duchenne patients, with studies reporting up to an additional 2-3 years of movement. 

Late Ambulatory

Often considered as a transitional phase, challenges such as fatigue when walking long distances and difficulty keeping up with peers are usually evident at this point, calling for a scooter, carriage or manual wheelchair.

Treatment should take priority! At this stage the plan-of-care should include working with a physical therapist and PMR to safely stretch as well as explore a reasonable steroid regimen to help prevent muscles from locking. Additionally, counseling and mental health should be addressed as the patient starts to think about their future. If you have a loved one living with DMD, you can help by encouraging and supporting their efforts to take more control of their own care as well as nurture their potential career prospects or interests.

Early Non-Ambulatory

The early non-ambulatory stage often marks the beginning of apparent heart and lung muscle issues. It is vital to continue working with a physical therapist to explore noninvasive means for oxygen flow while sleeping as well as delve into safer exercises, such as assisted swimming. At this point, steroid treatment may be monitored to determine if it’s still helpful, but in the event that the side effects are more apparent than the benefits, it’s recommended to discontinue use.

Another significant factor to consider during the early non-ambulatory stage is that teens with Duchenne have to navigate the same hurdles that all adolescents face in addition to the challenges of DMD. Despite these difficulties, independence alongside planning for the future should be encouraged, including taking personal responsibility for medical care and decision-making.

Late Non-Ambulatory

Also called the adult stage, the late non-ambulatory stage may introduce locked muscles for some, in addition to the symptoms from youth. Patients in this phase should continue to see their physical therapists, neuromuscular specialists as well as occupational therapists to maintain stretching routines and achieve healthy, independent habits. Often by this stage, steroid use is discontinued.

How You Can Help

No single person, company or organization can end Duchenne alone, but thanks to Parent Project Muscular Dystrophy (PPMD), this community is bigger than ever and there are so many ways for you to support the cause, including:

  • Fundraising directly through PPMD, starting a DIY fundraiser or even pledging your birthday on Facebook
  • Becoming part of the PPMD advocacy network, which will support and fuel your social awareness efforts
  • Attending Duchene-related events such as the Advocacy Conference and the End Duchenne Tour

Support For Families

Duchenne can be extremely disruptive to affected families and requires more strength in support from each other than ever before. So how does PPMD come in handy? This project helps families find local connect groups or community forums where they can exchange ideas, organize events and spread news.

Additionally, you can access various educational materials on the PPMD website, including FAQs for newly diagnosed families, links to certified Duchenne centers, guides for transitioning to adulthood, care team assembly tips, community resources and much more.

Here at Raintree, we recognize the critical role that therapy and rehabilitation providers play in helping individuals living with DMD achieve the best quality of life. Through our technology-enabled solutions, we are dedicated to our mission of humanizing healthcare and are proud of our role in helping therapists deliver better care, so that individuals with DMD can live more fulfilling lives. If healthcare awareness articles like this one interest you, please subscribe to our blog for upcoming advocacy topics.