It takes the commitment of many people to raise awareness of a disease as rare as PCH2, help find supporters and provide the best possible support for patients and their families.
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…
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 2011 study “Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia”, Namavar et al. demonstrated the connection between genetic findings on the one hand, and brain abnormalities seen in imaging as well as clinical symptoms of patients with pontocerebellar hypoplasia on the other.
PCH2A is very rare disease. In Germany, approximately one in every 100,000 births is affected. Inheritance Human genetic information (DNA) is found “tidied up” in so-called chromosomes within a cell….
Child development is often divided into different areas (gross and fine motor skills, language and cognition, as well as social-emotional development). Studies have established average ages at which specific developmental…
The word apnea comes from Greek apnoia, which means non-breathing. Apnea is therefore a stoppage of breathing. This stoppage of breathing can last just a few seconds up to a…
