As the year comes to an end, we reflect on the shared moments that define EURO-NMD. This season, we extend our warmest wishes to the expert healthcare professionals, support staff, patient advocates and partners who make our network thrive.

Their commitment to excellence and compassionate care has created a strong foundation for health and well-being. May the holiday season bring you moments of joy, rest, and the appreciation you all truly deserve.

Wishing you and your loved ones a festive season filled with warmth, peace, and a bright outlook for the year ahead!

The ERN EURO-NMD coordination team in Paris

The ERN EURO-NMD Coordination team is pleased to announce that the 7th ERN EURO-NMD Annual meeting will take place on 21-22-23 February 2024 at the Pitié-Salpêtrière Hospital in Paris.

Please click here to see the preliminary programme. More details on sessions and speakers will be added soon.

Registrations:

Important: if you have received a personal invitation to the meeting, please use the registration link included in the email that was sent to you. The registration form linked below is for anyone who would like to attend the annual meeting but has not received a personal invitation.

Please note that the number of participants is limited, therefore we will accept registrations on a first come, first serve basis. The exact location of the meeting venue and other details will be sent to confirmed participants.

Click here to register!

#EURONMD educational videos on Rare Peripheral Neuropathies to raise awareness are now subtitled in 10 languages!

We produced a series of educational videos on rare peripheral neuropathies to raise awareness, primarily, among general practitioners; first line professionals who play a decisive role in patient care.

💡 This work contains patient testimonials and explanations from clinicians’ experts in the field of rare peripheral neuropathies, who provide detailed information about the care and treatment options available to patients.

#Share them with your network because building bridges and breaking down barriers in the field of rare neuromuscular diseases is an adventure we're eager to continue.

Dear EURO-NMD Healthcare Providers,

We are pleased to invite you to participate in the survey “Current screening and treatment to optimize bone strength in neuromuscular disorders: a survey among medical specialists”. This is part of the preparation for the upcoming 274th ENMC workshop in January 2024. We were encouraged by patients involved in EURO-NMD to organize a workshop on this topic based on their experience of suboptimal bone health care. They approached our team because of our recent review [1]. Background information on the topic is provided below.

Below you find the link to the survey (presented in Castor). We would like you to answer the questions as a representative of your centre. If someone else in your team is a better candidate to do this, please forward this email to him or her. We expect that it takes you approximately 10 to 15 minutes to complete. We encourage you to complete the survey by January 12th 2024.

If you have any questions please contact : Nicol.Voermans@radboudumc.nl

[1] Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen  MCH, Voermans NC, Draaisma JMT, Erasmus CE. Bone Quality in Patients with a Congenital Myopathy: A Scoping Review. J Neuromuscul Dis. 2023;10(1):1-13

In partnership with ERN-RND for Rare Neurological Diseases & European Academy of Neurology, we are running a series of webinars every Thursday in January. This month's topic is rare muscle diseases. Each webinar will last approximately 1 hour with an opportunity for viewers to ask questions about the topic.

Sign up and learn virtually from experts in neuromuscular diseases!

This month's programm:

Thursday, January 4th 2024 at 16:00 CET
"Cognitive Symptoms in Myopathies" delivered by Dr. Jens Reimann (Department of Neurology, University Hospital Bonn, Germany)
 

Thursday, January 11th 2024 at 16:00 CET
"Respiratory insufficiency in Neuromuscular Diseases" delivered by Dr. Maxwell Damian (Consultant Neurologist and Clinical Neurophysiologist, Intensive care expert, NHS, UK)

 
Thursday, January 18th 2024 at 16:00 CET

"Rhabdomyolysis" Delivered by Prof. Antonio Toscano (University of Messina, Italy)
 

Thursday, January 25th 2024 at 16:00 CET
"Distal Myopathies" delivered by Prof. Bjarne Udd (Director of the Tampere Neuromuscular Center, Tampere University Hospital, Finland​)

16. January 2024, 3-4 pm CET
Dystonia - In whom, when and how genetic testing should be applied? Delivered by Sylvia Bösch (Medical University Innsbruck, Austria)

12 March 2024, 3 - 4 pm CET
The spectrum of genetic synucleinopathies 
Delivered by Leonidas Stefanis (University of Athens Medical School, Athens, Greece)

Muscular Dystrophy Canada (MDC) and the Neuromuscular Disease Network for Canada (NMD4C) are pleased to invite to their CPD-Accredited webinar ‘Understanding the molecular mechanisms of Myotonic dystrophy Type 1 to develop therapeutic strategies’.

This webinar is primarily targeted at clinicians, academics, and trainees with an interest in neuromuscular disease.

Learning Objectives:

1. Myotonic dystrophy type 1 (DM1).
2. The extent of skeletal muscle impairments experienced by individuals living with DM1.
3. The fundamental molecular mechanisms that underlie this disease.
4. Present and future therapeutic avenues for addressing muscular impairments in DM1.

📆 January, 9th 2024 - 17:00 ET

Click here to register!

As part of the training activities proposed by EJP RD, an 3-day training course on “Training on strategies to foster solutions of undiagnosed rare disease cases” is being organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP RD partners. The training will be held in Rome, Italy on 13-15 March 2024.

Through the presentation of sample use cases that have long eluded diagnosis, the course will provide participants with with useful tools, instruments and knowledge on novel strategies to foster solutions of undiagnosed rare diseases cases. Moreover, the course will facilitate networking among professionals involved in undiagnosed rare conditions.

The course is open to the international research community, to clinicians and to medical specialists who have experience and concrete interest in the diagnosis and research on rare diseases.

To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted.

Registration is mandatory and is currently open. 
Registration closes on February 15th.

The international congress dedicated to neuromuscular science, MYOLOGY 2024, will take place in PARIS on April 22th-25th, 2024. This 8th edition is expected to gather about 1,000 delegates from all over the world. In the wake of our past successful congress Myology 2022 in Nice, we look forward to welcoming even more participants in the capital city of France.

A few weeks before the Olympic Games, we will have more than ever the opportunity to highlight how our knowledge arising from neuromuscular diseases can lead to innovations also benefitting the general public. We will also have a global overview of the latest advances in muscle science with a specific focus on disease-modifying therapies and medical breakthroughs.

The United Nations has marked a momentous milestone for the global rare disease community by officially designating September 7th as World Duchenne Awareness Day, set to be observed annually from 2024. The adoption of the resolution “World Duchenne Awareness Day” is the UN’s first formal acknowledgment of a day dedicated to a rare disease.

The adoption of the resolution required a total of 97 votes from Member States. However, as a testament to the collaborative efforts and dedication of advocates, patient organizations, and key individuals, the resolution was adopted by consensus unanimously by all Member States on November 29. The resolution was co-sponsored by 128 Member States, the highest number of co-sponsorships in the 78th session as of today for a resolution tabled by one country.

Primary mitochondrial disorders (PMD) continue to be without any curative or evidence-based therapies, but in many cases, clinicians use one or more vitamins or cofactors to support the patient's mitochondrial function/metabolism and thereby help to alleviate the patient's health complaints.

In order to improve our understanding of which vitamins and cofactors clinicians use to support patients with PMD, the MetabERN’s Pyruvate metabolism mitochondrial oxidative phosphorylation disorders, Krebs cycle defects, disorders of thiamine transport and metabolism subnetwork [PM-MD (Mito)] has prepared a questionnaire.

The aims of this survey are:

1. to map the daily practice of vitamin and cofactor use among physicians treating children and adults affected by PMD
2. to use information from the survey to begin developping recommendations for the use of vitamins and cofactors to support patients affected by PMD 

The questionnaire is open to all PMD specialists from around the world until December 31, 2023. Answering takes 15-20 minutes. Please share this questionnaire with your colleagues in other centers/countries!

Thank you for your cooperation!

An exciting opportunity has arisen for a Research Business Manager in the internationally recognised John Walton Muscular Dystrophy Research Centre (JWMDRC). Ideally you will have experience of a leadership role within Clinical Research role already and this role will lead on overseeing the operations of the centre, working with the supportive leadership team to shape the future of research excellence in neuromuscular disease.

Apply before 2 January 2024