Data overview

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

Registry data overview (correct on 28 July 2017):

Map showing aggregated registration numbers:


A history of registrations since the start of the registry:


Diagnosis (as reported by participants):