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…
The severe neurological symptoms seen in children with PCH2A are caused by how the disease affects the brain. MRI allows us to visualize these abnormalities more precisely and thus gain important insights into the disease.
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.
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…
A motor disorder in the form of frequent, involuntary movements and a significant impairment of voluntary motor skills is one of the main symptoms of PCH2. Different Movement Patterns This…
