MD-PREV (Prevalence and impact of genetic muscle disorders in NZ)
Funded by the Health Research Council and the Brendel Trust.
When pushing for improvements in services and health care delivery, it is important to be able to provide evidence for why changes need to be made. In the area of genetic muscle disorders it is difficult to make these arguments, as there is little information about who and how people are affected by these disorders.
The study aimed to find out how many adults and children in New Zealand are diagnosed with a genetic muscle disorder and the impact the conditions have on them and those close to them. The study also looked into previously hidden financial costs to families and gaps in current services. The findings were used to identify how services can be improved to assist those living with these conditions.
Genetic muscle disorders included are:
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Emery Dreifuss muscular dystrophy
- limb-girdle muscular dystrophy
- facioscapulohumeral muscular dystrophy
- myotonic muscular dystrophy
- oculopharyngeal muscular dystrophy
- distal muscular dystrophy
- congenital muscular dystrophy
- myotonia congenita
- paramyotonia congenita
- central core disease
- nemaline myopathy
- myotubular myopathy
- GNE myopathy
- periodic paralysis
- Pompe's disease
It is hoped this study will help to provide accurate information as to how many people are affected by genetic muscle disorders in New Zealand and also to inform health care service delivery both in New Zealand and internationally.