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 aims 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 will also look into previously hidden financial costs to families and gaps in current services. The findings will be used to identify how services can be improved to assist those living with these conditions.
We are interested in hearing from anyone who has been diagnosed with a genetic muscle disorder, whether they are affected by the condition or not. Every story is important.
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
Participants will be asked to take part in an assessment of the impact of their own and/or their child's condition. Assessments will be completed in-person at the person's home or other preferred location, over the phone, or they can be self-completed online.
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.
If you're interested in finding out more about this study, please contact the team on;
Freephone: 0800 MDPREV (0800 637738)
Text: 021245 85907
This study is being funded by the Health Research Council of New Zealand.