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):
