Today’s pick in #apaperaday “Women and Duchenne” special is a letter to the editor by Wang et al in the journal of cardiac failure. 10.1016/j.cardfail.2022.03.359 The letter is short but makes an important point. It reflects on an earlier publication in the journal on the importance of cardiac care and monitoring for Duchenne patients.
A Parallel Need for Cardiovascular Care for Female Carriers of Duchenne and Becker Muscular Dystrophy
Authors here stress to ALSO include female carriers in the monitoring practice. 2/3 mothers with a Duchenne son will be a carrier. Carriers of the dystrophin mutation have 7-16% chance of developing dilated cardiomyopathy. Research has shown that up to 48% of female carriers have fibrosis in their hearts.
Guidelines prescribe checking for heart function in carriers starting in adulthood. This involves a physical examination, ECG and imaging every 3-5 years and more frequent if results dictated this.
Authors stress however that this does not happen in reality. In their institute (Penn Medicine Center) they have now launched a dedicated clinic to focus on long term care and monitoring of female carriers.
As the #WDAD2022 theme is Women and Duchenne, I thought it was important to stress this point. Two out of three mothers with a son with Duchenne is at risk of developing dilated cardiomyopathy. Once this is identified, action can be taken (intervention with drugs and careful monitoring).
Today we kick off with a paper from the Journal of Medical Genetics by Lindenbaum et al from 1979 on a female with Duchenne. Since the dystrophin gene, which is mutated in Duchenne is located on the X-chromosome, Duchenne occurs primarily in males. DOI 10.1136/jmg.16.5.389
Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm
First some context: Females have 2 X-chromosomes so they have a back-up copy, while men have only 1 X-chromosome so if their dystrophin gene is not functional, they have no dystrophin. In 1979 the dystrophin gene (formally called DMD gene) was not yet identified.
Researchers knew it had to be on the X-chromosome but did not know where. This made genetic counseling very difficult, so researchers were ‘hunting’ for the location of the gene. Notably, females with Duchenne with a specific mutation type (translocation) have been crucial for finding the location!
A translocation is when part of one chromosome is exchanged with part of another chromosome (say chromosome 1). When this occurs with the X-chromosome, the ‘break’ can go through the dystrophin gene. Now part of the gene is on chromosome 1 and part is on chromosome X. This disrupts the code because it cannot longer be produced from start to end.
However, the other X-chromosome of the woman still has the functional dystrophin gene. Why is that not used to produce dystrophin? This is due to a process called X-inactivation. When a female embryo is ~200 cells, each cell will inactivate one of its 2 X-chromosomes randomly. That pattern is then inherited by all daughter cells.
Generally, this occurs with 50% of cells inactivating the X-chromosome inherited from the father and 50% inactivating the X-chromosome inherited from the mother. However, when a translocation occurs, the X-chromosome that is combined with part of chromosome 1 will inactivate also part of chromosome 1.
This is not compatible with life. So, the cells in which that happens will die and only the cells where the non-translocated X-chromosome is inactivated will survive. This means that this female embryo will not be able to produce dystrophin. The X-chromosome with the functional dystrophin gene is not active.
Now to the paper: Authors report a girl who at 5 years of age showed all the signs and symptoms of Duchenne:
Hypertrophic calves
High CK
Difficulty with walking and stair climbing
Gowers maneuver
The girl required a wheelchair at age 8 (this was before steroids were used).
A biopsy was done and the analysis revealed the typical features of Duchenne (inflammation, regeneration, fibrosis). Note that this was before the gene and the protein were found, so authors could not check whether dystrophin was present or absent and had to rely on symptoms and histology only.
Chromosomal analysis revealed a translocation between chromosome 1 and chromosome X. Due to finding the location of this translocation breakpoint, and those of 2 other females with translocations and Duchenne, researchers could zoom in on the location of the dystrophin gene on Xp21
This later resulted in the identification of the gene in 1986 and the dystrophin protein in 1987. Already in 1985 genetic counseling could be offered to some families using the regions known to be part of the dystrophin gene identified with this ‘gene mapping’ technique.
So, women with Duchenne have played a crucial role in finding the dystrophin gene as back then the techniques could not pick up the deletions within the gene that occur in most men with Duchenne.
Join the educational event on Women and Duchenne that will launch on September 7, 15:00 CEST. This event is for anyone interested in how we can create a better future for people living with Duchenne and Becker MD.
This year’s World Duchenne Awareness Day, we are highlighting the various aspects of Women and Duchenne. The educational event is taking place in Rome, Italy, and is accessible via YouTube.
In Duchenne and Becker Muscular Dystrophy the spotlight is –almost always– on the boys and the men living with the rare muscle-wasting disease. No wonder, as it is an X-linked disease. The genetic mutation is located on the X-chromosome of which boys and men only have one. Women have, in general, two chromosomes, thus have a ‘spare’ gene which still encodes for dystrophin.
In addition to women with DMD, this theme Women and Duchenne includes all women. The women supporting the boys and men with Duchenne, the caregivers, the spouses, the sisters, the clinicians, the scientists and the patient advocates.
Main objective
The main goal of World Duchenne Awareness Day 2022 is to raise awareness about Women & Duchenne. First, we will give the podium to women, to address their needs and challenges. Secondly, we are providing information about optimal clinical, psychological and social support for carriers. Third, we will put the spotlight on the female caregivers. Lastly, we are highlighting the engagement of strong female scientists, clinicians and advocacy leaders.
Agenda
Click on the image below to open the agenda in high resolution.
Event Women and Duchenne
Carriers: Women who are carriers of the mutation can have clinical symptoms. This can vary from no symptoms at all to being as severely affected as boys and men with Duchenne MD.
It is important for Duchenne mothers, sisters, and aunts to be tested if they are carriers. Being a carrier can influence their daily life and mental wellbeing. Every Duchenne carrier, showing symptoms or not, need regular medical checks and should receive support.
Mothers: Not all mothers are carriers but all mothers need support and their challenges should be addressed. How to combine being a Duchenne MD mother with raising siblings, having a job, be a patient advocate, fundraiser or a mentor for others? We will discuss caregiver burden, mother love, how to look after other family members, how to look after yourself.
To illustrate what it means to be a Duchenne mother, Nicoletta Madia is interviewing mothers across the globe to collect their experiences. In addition to mothers, we invited a Duchenne sister and wife to share their stories, needs and challenges.
Lastly, we will discuss strong women in advocacy and science. Why did they choose Duchenne Muscular Dystrophy as field of expertise? Why are they so extremely dedicated? We hear from top professors and advocacy leaders in the field of Duchenne and Becker Muscular Dystrophy.
Why you should join
With extensive experience across care, science, policy, inclusion and research, this educational event is offering a unique perspective on Women & Duchenne, and how we can overcome challenges.
To conclude, this event is for anyone interested in how we can create a better future for people living with Duchenne and Becker Muscular Dystrophy. The online event is an initiative by the World Duchenne Organization.
Why for World Duchenne Awareness Day 2022, women are in the spotlight.
In Duchenne and Becker Muscular Dystrophy the spotlight is –almost always– on boys and the men living with the rare muscle-wasting disease. No wonder, as it is an X-linked disease. This means that the genetic mutation is located on the X-chromosome of which boys and men only have one. Women have, in general, two X chromosomes. This means women have a ‘spare’ gene that is still encoding for dystrophin.
The role of dystrophin
The muscle breakdown is being caused by missing the genetic information to produce dystrophin. This is well-known in the field of Duchenne. A loss of dystrophin is leading to loss of motor functions, difficulties in breathing and coughing, and weakening of the heart muscles. At a later stage, the smooth muscle function may be affected. Additionally, dystrophin is also playing a role in the brain. Although there is still a lot to learn about the exact role of dystrophin in the brain, we see a higher percentage Duchenne boys and men with learning and behavioral issues.
Women can be carriers with or without symptoms. Carriers of the Duchenne mutation can have symptoms in line with those seen in males living with Duchenne.
Women with Duchenne exist. When a woman’s ‘other’ X-chromosome is not existing or not ‘turned on’, she can have exactly the same symptoms and course of the disease. These women have the diagnosis Duchenne MD and should be included when talking about Duchenne.
All over the world there are extraordinary women playing an important role in the Duchenne field, in advocacy, research and care. Their work and impact will be highlighted during WDAD 2022
With a longer life expectancy in Duchenne, a new group is emerging: those of the partners and spouse.
Mothers as primary caregiver
First and foremost: for all mothers, carrier or not, it is important to pay more attention to wellbeing and self-care. Not only by themselves. This should be encouraged by clinicians looking after their sons, friends and family members. A famous quote is: ‘You first have to look well after yourself before you can look after others.’ Many Duchenne mothers miss their regular health checks. In addition to this, research showed they are significantly less fit than other women their age. Having a healthy lifestyle including time for yourself is important for your mental health.
Duchenne Carriers
Secondly, carriers, whether they are mothers, sisters, aunts or any other carrier, need regular checks and support. For example for heart function, muscle weakness, and psychosocial issues. Learning difficulties may need to be checked. The intensity of these visits and support depends on how severe the symptoms are.
Women living with Duchenne
There are girls and women lacking dystrophin, having the same clinical features as boys and men. However, girls and women are often diagnosed with more difficulties and delays, because Duchenne and Becker MD are considered a male only disease. Often, women need to explain that they too, can be affected with Duchenne MD. We as Duchenne Community should raise more awareness for this.
Women in Duchenne science and care
The Duchenne Community is blessed with involvement of exceptional women working in the field of research and care for everyone affected with a dystrophinopathy. They are ambassadors and mentors at the same time. They are spearheading the translation of research and care recommendations for families.
DMD Partners and spouse
Over the past decades, life expectancy of people living with Duchenne and Becker Muscular Dystrophy has increased significantly. Young boys are growing up and become young men, and adults. Partners and spouses play an increasing role in their lives. In other words, partners and spouse are becoming a new group in the Duchenne community. We should include their unique perspective.
Goals of World Duchenne Awareness Day 2022
Support mothers as primary caregivers
Acknowledge carriers and their clinical needs
Recognize women living with Duchenne
Celebrate strong female leaders in DMD research and advocacy
Include the perspective of partners and spouse
This World Duchenne Awareness Day, we are honoring and learning from the extraordinary women in the Duchenne and Becker MD field. This is going beyond the carriers and women with Duchenne MD. The patient advocates fighting for new developments, the women organizing support groups and the researchers and clinicians who continue to make a big difference in the lives of everyone affected by Duchenne and Becker MD.
Educational event on September 7
Moreover, on September 7, the World Duchenne Organization will host an educational event on women and Duchenne. During this virtual event, experts share their knowledge, stories and experiences surrounding women and girls in the field of DMD/BMD. The event is open for everyone and registration is not needed.
Download materials
There are official materials that can be used to raise awareness for World Duchenne Awareness Day. Visit the Download Materials page to access the visuals and texts. All materials are available in multiple languages. In addition to finding the press kit, people can find Did-You-Knows, social media banners, and high resolution logo’s.
For questions and inquiries, please contact Suzie-Ann Bakker:
September 7 is World Duchenne Awareness Day. On this day we raise awareness for Duchenne and Becker muscular dystrophy around the globe. As every year, we have a special theme that deserves more attention. This year that will be ‘Women & Duchenne‘.
Awareness raising materials, such as the official press pack, high resolution logos, key visuals and images can be found here.
An educational event accessible to everybody will take place on September 7. The event launches at 15:00 CEST. Click the link below and select the bell icon to be notified when the event begins.
WOMEN & DUCHENNE
By creating specific educational materials World Duchenne Organization will highlight all the aspects connected with Duchenne and the female world:
On September 7, the World Duchenne Organization will be hosting an online event. During this event, experts share their stories and experiences surrounding women and girls in the field of DMD/BMD.
PRESS RELEASE
Click the picture below to see the official World Duchenne Awareness Day 2022 press release.
On 7 September 2021, the World Duchenne Organization hosted an online event on Adult Life & Duchenne. The event gathered people from over 50 countries to listen to stories and experiences surrounding DMD and adult life. The World Duchenne Awareness Day 2021 event ‘Adult Life & Duchenne’ is available with Spanish, Russian and Ukrainian interpretation.
The aim of the online event was to inspire young adults with Duchenne and their families to think and plan for the future, and to call for global action to everyone involved to facilitate adults with Duchenne to live a full life.
Speakers include Prof. Ros Quinlivan, Dr. Jos Hendriksen, Nicoletta Madia, Elizabeth Vroom and Hlawulani Mkhabela. Apart from these, Duchenne adults from different parts of the world will share their experience of living with Duchenne.
Guideline for Duchenne Adult Care
In addition to the online event, a new Consensus Guideline for Duchenne Adult Care was published. This document concludes the insights of a series of workshops with specialists from a wide range of clinical areas. The Consensus Guideline for Duchenne Adult Care aims to provide a framework to improve clinical services and multi-disciplinary care for adults living with Duchenne Muscular Dystrophy.
On 7 September 2021, many activities around the world were organized on the occasion of World Duchenne Awareness Day. Awareness-raising events were hosted in many countries by organizations, companies, healthcare professionals and families. This article summarizes World Duchenne Awareness Day 2021 events involving thousands of people across the world, under the theme ‘Adult Life & Duchenne’.
The 8th World Duchenne Awareness Day was a reminder of the importance of creating opportunities to improve the lives of adults living with Duchenne muscular dystrophy (DMD).
The World Duchenne Organization would like to thank everyone who created and participated in activities that were organized throughout the world. Elizabeth Vroom, chair: “During this extraordinary day, we were happy to see this big movement about the globe and the willingness to take action to achieve the goal of this day. Adults with Duchenne should be able to receive adequate care, have opportunities to live an independent life and to participate in society.”
Online Event on Adult Life & Duchenne
The World Duchenne Organization hosted an online event on Adult Life & Duchenne. The event gathered people from 59 countries to listen to stories and experiences surrounding DMD and adult life. The aim was not only to inspire and empower young adults with Duchenne and their families to think and plan for the future, but also call for global action to everyone involved to facilitate adults with Duchenne to live a full life including, social participation, jobs, independence and provision of optimal health care.
Apart from experts sharing their take on adult life, multiple interviews highlighted the perspective of adults living with Duchenne. In addition to care, other important aspects that were discussed included mental wellbeing, future perspective, and disability rights.
Consensus Guidelines for Adult Duchenne Care
With increased life expectancy for people living with Duchenne MD, new medical needs need to be addressed in international standards of care. The Journal of Neuromuscular Diseases published on WDAD the Consensus Guidelines for Adult Duchenne Care. Catherine Woodhead, Chief Executive of Muscular Dystrophy UK said: “I am extremely pleased that Muscular Dystrophy UK has been able to fund and support the development of the first published best practice standards of care for adults living with Duchenne muscular dystrophy. We hope that the pioneering work of Professor Ros Quinlivan and the Adult NorthStar Network will help to improve the consistency of high quality care for adults with Duchenne in the UK, but also across the world as these recommendations are adopted in other countries.”
Illuminated landmarks
As the evening set in on September 7, famous buildings, landmarks and monuments were lighting up in red to raise awareness for the rare muscle wasting disease. The Niagara Falls (Canada), Torre Glòries (Spain), and Legislatura (Chile), are only few of the many red landmarks. Next to a wave of red light, some of the initiatives included the projection of the logo, such as on the Stedelijk Museum (Netherlands).
Next Steps
The World Duchenne Organization is planning a series of webinars regarding adult life in Duchenne. Each webinar will focus on a specific care aspect. The Duchenne Care Conference that is taking place in April 2022 will be dedicated as well on Adult Life & Duchenne.
World Duchenne Awareness Day
World Duchenne Awareness Day has been celebrated annually by the Duchenne and Becker community since 2014. It aims to raise awareness and inspire action to improve life quantity and quality of people living with Duchenne and Becker muscular dystrophy. Through World Duchenne Awareness Day, the World Duchenne Organization works to highlight important aspects that deserve more attention.
Today on World Duchenne Awareness Day, the Journal of Neuromuscular Diseases published the consensus guideline for adult Duchenne care. The publication can be accessed by clicking on the link below. We are grateful for professor Ros Quinlivan for taking the lead on this, and would like to thank the Adult North Star Network (ANSN) and Muscular Dystrophy UK for their contributions.
There are growing numbers of adults with Duchenne Muscular Dystrophy living well into their fourth decade. These patients have complex medical needs that to date have not been addressed in the International standards of care. We sought to create a consensus based standard of care through a series of multi-disciplinary workshops with specialists from a wide range of clinical areas: Neurology, Cardiology, Respiratory Medicine, Gastroenterology, Endocrinology, Palliative Care Medicine, Rehabilitation, Renal, Anaesthetics and Clinical Psychology.
Detailed reports of evidence reviewed and the consensus building process were produced following each workshop and condensed into this final document which was approved by all members of the Adult North Star Network including service users. The aim of this document is to provide a framework to improve clinical services and multi-disciplinary care for adults living with Duchenne Muscular Dystrophy.
The World Duchenne Awareness Day is grateful to receive a message from Pope Francis. This year, he is once again giving his blessing for World Duchenne Awareness Day. Below, you can find the official message from Pope Francis. We are giving thanks to WDO Board member and president of ADM Argentina Santiago Ordóñez for this opportunity.
Translation:
I send warm greetings on this new World Duchenne Awareness Day. Adding myself to the hope of a better future for all people affected with this disease.
I pray for all of you and, please, I ask you to do it for me as well.
Today, the official World Duchenne Awareness Day 2021 promo video is launched. This video marks the start of the global awareness raising day on September 7. With the help of many patient organizations throughout the world, the promo video is available in 16 languages. The video shows various portraits of people living with Duchenne in daily life.
Produced by the World Duchenne Organization
The official promo video is initiated and produced by the World Duchenne Organization, and coordinated by Nicoletta Madia. “Words are important. Words can help make a difference. This is the theme that emerges from the video for World Duchenne Awareness Day 2021. The video shows various portraits of people living with Duchenne in daily life. Three words are highlighted that mean a lot to people living with Duchenne MD.”
Duchenne encompasses what it means to live with this pathology and the commitment of research and clinic in this field.
Community includes thousands of people globally committed to changing the quality of life of people living with this disease.
Awareness encompasses the importance of informing about this rare condition globally by reaching the greatest number of people. An objective that is at the center of this day and for which the World Duchenne Organization asks everyone to spread the word.
Raising awareness
The official hashtag for the awareness raising campaign is #spreadtheword. Everyone is encouraged to share this video with their friends and family to raise awareness for Duchenne and Becker muscular dystrophy.
How to share
Nicoletta: “In the previous years, the promo video was displayed on enormous billboards, many social media channels, and screens in hospitals and clinics. Our aim is to achieve this type of global coverage again, so we can truly make an impact. With the connected community we have right now, I’m positive that this will happen.”
