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Registry data

We collect a range of clinical and genetic data from registry participants:

  • Contact details and demographics
  • Clinical diagnosis and genetic mutation
  • Upload of genetic report and muscle biopsy report
  • Details of clinician and genetic testing / muscle biopsy centres
  • Best and current motor function and wheelchair use
  • Respiratory function, ventilation type and chest infections
  • Feeding and heart function
  • Neuromuscular examinations and scoliosis surgery
  • Family history and other registries/studies joined

Data summaries (updated every 6 months)