The ENMC is funded by several European patient organisations and supported by a company forum (made up of members from pharmaceutical, biotech and medical device companies with an interest in neuromuscular disorders), including Muscular Dystrophy UK. Here, we share a summary of two of the most recent workshops with you.
The effect of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) on brain function
29 November – 1 December 2019, Netherlands
In this workshop, the group of experts discussed topics related to brain function in people with DMD and BMD including:
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How many people have brain-related symptoms and how severe these symptoms are?
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How can brain imaging help?
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What are the recommended standards of care for these symptoms?
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What should be the focus of future research?
We know that up to 50% of people with DMD and those with BMD will have symptoms related to brain function, such as behavioural difficulties. Patient representatives explained the impact that these symptoms can have and the lack of attention placed on early diagnosis and treatment for brain-related symptoms.
The group will continue to work together and this collaboration will be assisted by a recently awarded grant from the EU Horizon2020 programme.
Read the whole report here.
Polyglucosan storage myopathies
13 – 15 December 2019, Netherlands
Polyglucosan myopathy is a genetic muscle-wasting condition caused by the build-up of large, complex molecules (called polysaccharides) in cells, including muscle and nerve cells.
In this workshop, the group of experts discussed topics related to the rare condition including:
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New and known information about polyglucosan storage myopathies
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Ways the condition could be treated
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Current pre-clinical research that has shown to reduce the build-up of the polysaccharides in a mouse model
Read the whole report here.
You can read the reports of over 251 workshops on a range of muscle-wasting conditions on the ENMC website.
If you have any questions about any of the topics, or any other questions related to research, contact our Research Line on 02078034813 or research@musculardystrophyuk.org