The challenge in rare diseases is insufficient knowledge. This can lead to under-diagnosis, misdiagnosis, delays in diagnosis and inappropriate treatment. Research helps to address this. Here we provide links to current research, reviews, and recent papers.
Cochrane Reviews are systematic reviews of primary research in human health care and health policy. They explore the evidence for and against the effectiveness and appropriateness of treatments. There are two reviews about aspects of McArdle Disease.
IamGSD does not undertake formal research, but is able to engage the muscle GSD community in projects such as surveys and workshops. Valuable insight can be gained and this can help to inform the research agenda.