The majority of CDG don’t have a specific treatment, hence the management of the clinical symptoms and presentations is fundamental for patients and families well being and quality of life.
In an unprecedented effort, researchers, medical professionals and patient advocates of the CDG & Allies-PPAIN network and the APCDG, teamed up to combine their knowledge and to gather the existing scattered information across the literature.
This originated 3 research papers with management guidelines for the clinical symptoms and presentations for 3 CDG types:
1- PMM2-CDG,
2- MPI-CDG
3 – PGM1-CDG
These papers are of vital importance since they are tools to educate medical doctors about the symptoms presented by these patients and more importantly, the existing management solutions, which is vital for a swift treatment response.
These literature reviews are part of the CDG & Allies-PPAIN network strategy to raise awareness for CDG and to push for research and therapy development.
