Monday September 7 marked the 6th edition of World Duchenne Awareness Day. This international day dedicated to raise awareness about Duchenne and Becker muscular dystrophy (DMD & BMD) continues to grow since its launch in 2014. Many events were organized and over 50 countries participated in the awareness effort.

WDAD in numbers

• From virtual walks in Canada to personal stories in Kenya and from educational meetings in Argentina to documentaries in the Czech Republic, many of virtual events took place in countries across the globe.
• The ‘Together, we are stronger’ campaign video was translated in 15 languages and attracted over 1 millions views globally.
• The official press kit with messages about the conditions and an explanation about the theme was translated in 17 languages, including Arabic, Hebrew and Russian.
• As the evening set in, iconic landmarks and monuments were illuminated to show solidarity for the Duchenne and Becker community. The bridge in Turkey, Niagara Falls in Canada and the famous Sagrada Familia in Barcelona were part of the more than 27 landmarks around the globe turned red!

Duchenne and the brain

This year’s educational theme focuses on brain involvement in DMD and BMD, a previously overlooked area. The online program ‘Duchenne and the Brain’ where researchers, clinicians and families shared their experience on brain involvement in DMD/BMD collected over 2K views in the first week already. Subtitles are available in Spanish and Dutch, and the community is working on subtitles in German, French, Ukrainian and Russian.

Did you host or attend an activity or event? Please send us your pictures, video or press clippings!

Thanks to the European NeuroMuscular Centre, last November a workshop on the role of brain dystrophin in muscular dystrophy; Implications for clinical care and translational research took place. The ENMC kindly gave the World Duchenne Organization permission to publish the lay report of this meeting on the WDAD website.

The workshop report of the 249th ENMC workshop on brain dystrophin is now online as journal pre-proof. The DOI of the article is: 10.1016/j.nmd.2020.08.357.

Click here to read the full lay report (English)

This lay report is currently translated into several languages including German, French, Italian, Danish and Dutch. We generously thank the ENMC for hosting this workshop and the translators of the report: Prof U Schara, Dr C. Vaillend, Prof. A. Ferlini, Prof J. Vissing, Dr M. van Putten and Dr N. Doorenweerd for their general contribution to making information more accessible to the global muscular dystrophy community.

The European Neuromuscular Centre (ENMC) was founded in 1992 by a group of European patient associations that dedicated itself to bring leading researchers and clinicians from all over the world together. To achieve this goal, ENMC applies a concept unique in the scientific world, which consists of organising and financing workshops on application basis. Topics of the workshops vary from outcome measures, clinical trial readiness and preclinical studies, to diagnosis and care for neuromuscular diseases.

On September 7, we are launching a live online program for everyone interested in Duchenne care and research. Experts are sharing their experience and knowledge about Duchenne and Becker in relation to the brain. The full program can be found below. The livestream is available with Spanish subtitles.

Details

Date: Monday September 7

Time: 9am EDT, 2pm GMT, 3pm CEST

Link: https://youtu.be/yuB_87NoxGU

Add invitation to calendar

The two-hour online program will be a livestream starting Monday September 7 3pm CEST. WDO Chair Elizabeth Vroom invites Prof. Mercuri, Dr. Doorenweerd, Dr. Hendriksen, Kathi Kinnett, and Prof. Muntoni to share their expertise and experience on Duchenne and Becker in relation to the brain. Next to experts in the field of DMD and BMD, we have parents explaining the impact of having a child with DMD/BMD who is experiencing learning difficulties and/or behavior problems.

Speakers

Prof. Eugenio Mercuri, pediatric neurologist Policlinico Gemelli, Rome

As a pediatric neurologist specialized in neuromuscular diseases, professor Mercuri’s areas of interest include neonatal neurology and the clinical and molecular aspects of childhood neuromuscular diseases. He will share his experience and perspective as a clinician about the impact of brain involvement in DMD/BMD.

François Lamy, DMD father from France 

Father of 2 children, one of them is Luka who was diagnosed with Duchenne at an early age when he already showed differences in communicative skills. Francois explains what help they needed since then to support Luka with his behavior and learning skills.

Dr. Nathalie Doorenweerd, researcher LUMC and University of Newcastle (UK)

Most families know that the fact dystrophin is missing in the brain of individuals with Duchenne is causing problems. Dr. Doorenweerd’s research is looking into the changes in the brain and brain tissue in absence of dystrophin. She’s using techniques like MRI to measure metrics such as brain volume, and perfusion (how much blood flows through the brain) in boys with DMD and BMD.

Martha Stein Carotta Henriques, DMD mother from Brazil 

Martha’s son with Duchenne muscular dystrophy was diagnosed very late. Martha will tell about their journey and explains what it means for a boy not to be understood by the outside world. 

Dr. Jos Hendriksen, neuropsychologist Kempenhaeghe (NL)

Dr. Hendriksen is a pioneer and one of the most experienced clinical neuropsychologists  in the field of DMD/BMD and brain involvement. For about 25 years he has been working on the subject which is the theme of this year’s WDAD. He is also the author of the handbook Neuropsychology of Duchenne, which is translated in 6 languages. He will present the different kinds of behavioural and learning issues we see in people with DMD/BMD, and how we can help them with the knowledge of today. Next to this he also pleas for standardization and dissemination of knowledge on this topic.

Kathi Kinnett, clinical care advisor PPMD (USA)

With a longstanding involvement in clinical care at PPMD USA and crowned godmother of Duchenne family guide, Kathi Kinnett is an expert in bringing people together to reach consensus on care and in translating these scientific guidelines to families. Kathi will talk about what she hears from families and what is needed to improve care regarding learning and behavioral issues. 

Prof. Francesco Muntoni, pediatric neurologist GOSH, London (UK)

Professor Muntoni is pediatric neurologist and director of a leading clinical and research institution for children affected by a neuromuscular disorder. He is one of the leading clinicians and researchers in DMD and BMD in the world and is also involved in the development of new treatments for DMD. He will share his experience as clinician, researcher and as the leader of the BIND consortium. He will explain what are the next steps in order to improve the understanding of Brain involvement in Dystrophinopathies (Duchenne and Becker)

Elizabeth Vroom, chair World Duchenne Organization (NL)

Mother of a son with Duchenne muscular dystrophy. She has a longstanding interest in improving Duchenne care including earlier diagnosis, early screening for neuropsychological issues and adequate support and treatment for those affected.

An online program about brain involvement in Duchenne and Becker muscular dystrophy will launch on World Duchenne Awareness Day. This initiative is organized by the World Duchenne Organization and will take place on September 7. 

The theme of this year’s World Duchenne Awareness Day is ‘Duchenne and the Brain’. Because of this, the World Duchenne Organization organizes a global livestream directed towards families, clinicians, researchers, teachers, basically everybody involved and interested in Duchenne care and research. The live stream will be launched with Spanish subtitles.

Program

• Stories of Duchenne families dealing with the burden related to brain involvement in Duchenne;
• Update on the current state of knowledge about the comorbidities;
• The need for early and adequate screening and support.

About the theme

This theme was chosen to raise much needed awareness on brain comorbidities such as autism, ADD and ADHD and learning difficulties in people affected by rare disease Duchenne and Becker muscular dystrophy. This crucial aspect was already recognized when the condition was first described in 1861 by Duchenne de Boulogne. International research to create standardized assessment and treatment options is currently being worked on.