We and several of our collaborators have developed a set of guidelines called “Best Practices in PKAN.” These guidelines provide recommendations and instructions for taking care of a child or adult with PKAN. They cover everything from the initial diagnostic workup to recommended long-term care. This project was funded by the NBIA Disorders Association, Hoffnungsbaum, e.V., and Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro.
The guidelines were developed by consulting with knowledgeable specialists in various fields, such as neurology, nutrition, ophthalmology, and physical therapy, who manage patients with PKAN. We also sought input from the PKAN community because their personal experiences added valuable insight. The combined knowledge and experience of all these individuals was used to create a set of gold standards for the diagnosis and management of PKAN. We hope this document will be a valuable resource for patients themselves and for any doctors they see who are not familiar with PKAN.
The best practices document has now been completed and was published in the journal of Molecular Genetics and Metabolism.
© 2016. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/