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…
„A child with PCH2 changes you for the better“ Lisa, the mother of little Max, talks about her journey to a diagnosis and her initial difficulties in feeding Max properly….
„There is a lot of happiness to be found on this journey, but it doesn’t compare to what could/should have been“ In this interview, Anna and Paolo talk about their…
„Finding your own way“ In this interview, pediatrician Nellie from Germany talks about the long journey to her daughter Linn’s diagnosis and her search for a path for her and…
„You can do so much more than you think“ Anna from Germany talks with love about her family’s journey, her son Ole, and her sick daughter Nele. She tells of…
The article originally titled “Human organoid model of PCH2a recapitulates brain region-specific pathology” shows for the first time how the pathology in certain brain regions in PCH2A can be simulated in a 3-dimensional neuronal tissue model (organoid).
The aim of the study “Natural course of pontocerebellar hypoplasia type 2A” by Sánchez-Albisua et al. was to describe the natural course of PCH2 using a uniform group of patients with the typical PCH2A mutation.
In their 1995 study “The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees”, Barth et al. collected data from 10 unrelated family pedigrees.
Parents of affected children have reported that their children assume a C-shaped posture over a longer period of time, sometimes for several hours. The children seem to feel highly uncomfortable;…
Feeding difficulties is a broad term. Overall, a feeding situation is considered abnormal if the duration of a meal exceeds 30 minutes, if very frequent meals are necessary (more than…
