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Registry impact and activity

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We regularly present registry data in posters at patient or scientific meetings and conferences, to improve understanding of these conditions and raise awareness of the registry. Posters from the last 2 years are available to view below:


Reqistry enquiries

Anyone can make a request to use the registry or its data to support their research, and this is called a registry enquiry. Each enquiry is reviewed and voted on by the Registry Steering Committee to check whether it is appropriate, in-line with registry aims, and in the best interests of patients. To proceed, enquiries must be approved by at least two-thirds (67%) of committee members.

Registry enquiries approved to date:

  • Academic: Data on neurological involvement in XLMTM
  • Academic and patient group collaboration: Expansion of registry questionnaires to collect data on liver involvement.
  • Industry: Data on genetically confirmed, living and deceased MTM and CNM patients, examining disease severity by affected gene. 
  • Industry: Data on living and deceased XLMTM patients with genetic confirmation.
  • Academic: Recruitment for a survey on fatigue, social activities, sleep and mood in young people with neuromuscular conditions.
  • Industry: Recruitment for interventional clinical trial.
  • Industry: Recruitment for a survey on wearable devices for motion capture.
  • Academic: Recruitment for a survey on conception, pregnancy and the postpartum period in patients with neuromuscular diseases.
  • Academic: Recruitment for a survey on the impact of swallowing difficulties on individuals with a neuromuscular condition and their carers.
  • Academic: Recruitment for a survey on muscular symptoms of female XLMTM carriers in Europe.
  • Academic: Recruitment for a survey on the use and effects of Acetylcholinesterase Inhibitors (Mestinon) in patients with CNM.
  • Individual patient: Data on patient numbers by causative gene.
  • Academic: Recruitment for a survey to understand the range of experiences of power wheelchair users in cities, towns and on public transport.



The registry has contributed to the following publications: