Natural History of Pontocerebellar Hypoplasia Type 2 – A Guideline for Parents and Those Interested
After the patient brochure 1.0 from 2014, we are now pleased to present the current patient brochure 2.0.
Natural History of Pontocerebellar Hypoplasia Type 2 – A Guideline for Parents and Those Interested.
The first natural history study on PCH2 from 2014 formed the basis of the first patient brochure; in 2020, this study served as a starting point for a second natural history study, which was planned together with highly dedicated PCH parents and conducted over the following years as part of doctoral theses.
Thanks to the support of numerous parents of children with PCH who shared their experiences and data, the study was completed in 2023 under the direction of PD Dr. Wibke Janzarik (University of Freiburg).
The objective of the study was to update and expand the findings of the first study on the natural history of PCH2, this time using a larger number of patients. It focused on the medical treatment of symptoms and the nutritional situation as well as the growth and development of children with PCH2.
The patient brochure 2.0 has been created on the basis of this study, and – just like its predecessor – is aimed at parents, relatives and other interested readers, presenting the scientific results of the study in an edited format. It summarizes the latest findings on the natural history of the disease and the symptomatic treatment options known to date.
The brochure can serve as an initial guide, but also provides more in-depth knowledge, enabling readers to learn more about the disease, understand it better and provide better support for affected children.
Download the English version here.
Download the German version here.
For a donation, printed versions can be requested by sending an email to .
