It is possible to help improve the quality of life and life expectancy of individuals with Duchenne.1,2
With the right care and access to adequate therapeutic strategies, healthcare teams have been able to:1,3
For your patient, this can mean leading a fulfilling, independent life into adulthood.
Read a mother’s account of family life after receiving a Duchenne diagnosis for her son.
Never will I forget the sunny day in March, many years ago, when the paediatrician announced: "Your son has a serious, incurable muscle disease." He looked at me cautiously, as if waiting for a reaction. A sign that I understood what he had just said. But there was nothing. My head was fuzzy.
From the recognition of symptoms to treatment and supportive care, there are multiple stages in the management of a patient with Duchenne. In the video below, Paediatric Neurologist Dr. Damjan Osredkar discusses his centre's experience in the diagnosis and management of Duchenne. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.
Duchenne care can be complex.
It requires neuromuscular, respiratory, cardiac, orthopaedic, endocrine, psychosocial and rehabilitative interventions – all of which evolve over the course of the disease.1
As such, international care guidelines for Duchenne recommend a coordinated, multidisciplinary approach to care.1
By assembling a group of providers in a multidisciplinary team, the patient can benefit from:1
Click each icon to find out more
Please note that the information in this figure is intended to provide an overview only and is not exhaustive information. Please refer to the international care guidelines and any local guidelines for more information.
Adapted from Birnkrant 2018 part 1; Muscular Dystrophy UK1,4
Studies have shown that early diagnosis and care can help slow Duchenne progression and minimise the risks and complications of the disease.1,2,11–13
This means that patients may:1–3,11–13
Glucocorticoids for the treatment of muscle strength and function1,14
Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) for the treatment of heart disease5
Bisphosphonate therapy for the treatment of osteoporosis5
Hormone replacement therapy for the treatment of impaired growth, delayed puberty, and adrenal insufficiency1
*Please note this is not an exhaustive list
Therapeutic strategies include:*2
Mutation-specific therapies or gene replacement therapies aiming to restore dystrophin production
Muscle membrane stabilisation and/or upregulation of compensatory proteins which are structurally and functionally similar to dystrophin
*Some of these treatments have been approved by regulators while others are near, or in, regulatory review and might become available in the future 1,2
Treatment with glucocorticoids remains a mainstay of Duchenne treatment and it is recommended that individuals should continue taking glucocorticoids after loss of ambulation.1 Recent studies have also demonstrated the benefits of early glucocorticoid treatment, before significant physical decline.1,13,15
The long-term effects of glucocorticoid therapy have been shown to include*:
*compared to untreated patients
The 2018 International Care Guidelines recommends following an initial consultation with the family, a discussion regarding side effects and a nutritional consultation should occur before any corticosteroid treatment is initiated.1 Well documented side effects of long-term corticosteroid use can include; weight gain and obesity, acne and warts, cushingoid features, growth retardation and delayed puberty, cataracts, immune/adrenal suppression, glucose intolerance, hypertension, adverse behavioural changes, gastro-oesophageal reflux, peptic ulcer, gastritis, osteoporosis and myoglobinuria.16
For more information, Click here for the International Duchenne Care Considerations summaries.
This information is for EU Healthcare Professionals only and not intended for UK nor Ireland Healthcare Professionals. By clicking OK you are confirming that you are a Healthcare Professional based in the EU
If you are not a Healthcare Professional, visit Duchenne and You for more information on signs and symptoms and support following a Duchenne diagnosis.
Never will I forget the sunny day in March, many years ago, when the paediatrician announced: “Your son has a serious, incurable muscle disease.” He looked at me cautiously, as if waiting for a reaction. A sign that I understood what he had just said.
But there was nothing. My head was fuzzy.
l sat there numb, and had no idea how to start getting my head around this word. I just couldn’t grasp it. But two thoughts crossed my mind.
Was this man off his head giving me such a terrifying diagnosis after just watching my son stand up once? At the same time the thought came: of course, he’s right, and I knew it!
Despite all the reassurance from doctors, physiotherapists and other people, I had always suspected that something was wrong. If I were not so shocked, I might have felt a fleeting sense of satisfaction. Finally, I was no longer the neurotic mother who was always imagining things.
A dark time followed that fateful March day. For days I felt like I was in freefall. Not once was I able to remember the words ‘muscular dystrophy’, because my consciousness refused to accept this diagnosis. All I could think about was that my barely five-year-old, innocent, blonde, curly-haired boy would die of this disease. That thought ripped my heart out.
Why my child? As hard as it was, I kept asking myself the same question. I quarrelled with God and the world – especially with God. What had I done to deserve this? What had my child done? I looked for answers in religion, read books on coping strategies, and looked for advice from other parents of ‘special’ children, gradually learning to give up meaningless and difficult questions.
Naturally, my little boy did not suspect what was going on, and his older sister went about her life. That was maybe my salvation: I was forced to carry on as normally as possible. After a few weeks this hard time ended and I began to deal with the illness. I spoke to the nursery, primary school, friends and neighbours. I turned to the church and I researched self-help groups. Sometimes I had to swallow a lot but the more I talked about the disease, the easier it became for me. I decided that we would have a good life despite this devastating diagnosis. The idea of life expectancy faded into the background and disappeared for many years. I stopped searching for research and concentrated on life instead.
Important decisions had to be made again and again. Which school is suitable? How would he get on there? Does he need a teaching assistant, or could he manage without? How will I deal with the topic of school trips? Will he be bullied? Should he take steroids or not? How can I tell him why he is so different from his friends? How do I find the right words?
When will he need a wheelchair? How can we deal with the situation as a family? Will I be able to do justice to his sister? Many sleepless nights came and went, and it was always my son who gave me courage and strength.
Naturally our life was very different to those of our family, neighbours and friends, simply because we thought differently.
My son went to the only local primary school along with his friends, unfortunately on a hill. Sending him to the nearest special school would certainly have made many things easier, but I didn’t feel he belonged to that world yet. The children in his class were totally at ease with him and the school went out of their way to make school trips manageable. He felt fine, was almost always in good spirits and carried on like a normal person. The moments when he was sad or stressed were rare and never lasted long.
As he got older he started to think about his situation. He kept his thoughts to himself. Text books say you should only answer the questions your child asks. But he did not ask questions. He seemed to sort things out on his own. Without any fuss, he just seemed to accept his fate. I was worried because for a long time I thought he needed to know what was the matter with him. But I found out many years later that he had in fact known for a long time, but just didn’t talk about it. Still, I felt it was time to put my son in touch with other children with Duchenne. So, in the hot summer of the football world championship in Germany, we drove to a rehabilitation clinic in Weserbergland for the first time.
I was surprised to discover how relaxed and happy the mood was between the parents and children; even families with older boys were having fun. I was even more surprised that we became part of a big family. To this day, our rehabilitation stays in Hoxter are one of the highlights of the year.
And so the years went by. There were several surgeries and long hospital stays. The need for financial assistance steadily increased, there were many battles with health insurance, and there was always the ongoing worry about his health, his muscle loss and loss of function, ventilation and heart medication.
I watched his playmates progressing while he went backwards, and that hurt a lot. On the other hand, I learned to live in the present – a skill I had always wanted. His illness always gave me the time to grow into it and keep up. I grew into it and made my peace with Duchenne.
Today my son is a smart, polite and, above all, compassionate person who always makes me laugh with his dry humour. He is a gift: my wonderful Duchenne son!
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