Duchenne Muscular Dystrophy: Challenges and Essential Support for Families

World Duchenne/Becker Muscular Dystrophy Awareness Day is celebrated on September 7th

APN – Portuguese Neuromuscular Association joins the global movement proposed by the World Duchenne Organization (WDO) to once again mark World Duchenne/Becker Muscular Dystrophy (DMD/BMD) Awareness Day, which is celebrated on September 7th for the 12th consecutive year.

This year, the theme is “Family: The Heart of Care” , highlighting the fundamental role of families in supporting people living with this serious, rare, genetic neuromuscular disease, which primarily affects male children.

"Duchenne and Becker Muscular Dystrophy (DMD/BMD) imposes enormous fragility on those affected, manifesting through the progression of motor, respiratory, and cardiac limitations due to the absence of dystrophin, a protein essential for muscle tissue regeneration. In addition to the physical challenges, the emotional and social dimensions are equally demanding. The family is not only a caregiver; they are also the primary psychological support throughout the irreversible progression of the disease. Parents, siblings, grandparents, uncles, aunts, and other family members are the true pillars of support, and all play an essential role in the daily lives of those living with DMD/BMD," explains Joaquim Brites, president of the APN.

He adds: "This rare disease, which affects 1 in 3,500 male children, has dominated much of the research into neuromuscular diseases, but there is still no cure. Therefore, it is essential to ensure access to specialized medical care, rehabilitation therapies such as physical and occupational therapy, and accessible environments, whether at school or in the community where they live, to improve well-being and promote inclusion. It is crucial to ensure integrated health services, multidisciplinary consultations, education in adapted environments, and, preferably, academic training that allows these individuals to actively participate in society through a professional and contributing career, to the limit of their resilience."

Regarding treatments and new gene therapies under development, Joaquim Brites expresses concern about the lack of Reference Centers, the lack of preparedness of Health Services, regulatory bodies, and even the policymakers responsible for approving innovative drugs that will inevitably be very expensive. "Although highly debatable and controversial, a serious debate is necessary regarding the best solutions and policies that we will have to address and prepare, perhaps sooner than we think…" he notes.

This day, in Portugal and around the world, is marked with events, scientific conferences, and awareness-raising initiatives aimed at promoting early diagnosis and greater knowledge about this disease. The APN (National Health Authority) is supporting this initiative by promoting it on its social media channels, across all communication channels that want to highlight the date, and in local authorities and healthcare units nationwide.

Duchenne Muscular Dystrophy (DMD) is a rare, very disabling genetic disease linked to the X chromosome.

At a time when the challenge of genetics is present in many scientific debates, we seek to identify the best opportunity to launch a public discussion on the usefulness of neonatal screening, in Europe and in many countries around the world that believe this to be the great hope for families.

On this awareness day, the APN also intends to urge all parents to be aware of small signs in children that, early on, can indicate the disease.

These include difficulty getting up from the floor, climbing stairs, frequent falls, tiring easily, and some physical “laziness.”

In these cases, it's recommended to consult a doctor and request a Creatine Phosphokinase (CPK) test. Depending on the results, genetic confirmation should be performed.