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 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.
In their 2008 study “Mutations in the tRNA splicing endonuclease cause pontocerebellar hypoplasia”, Budde et al. demonstrated the genetic cause of PCH2 through genomic analysis. The underlying change is located on chromosome 17q25, specifically in the TSEN54 gene.
Sleep problems are very common in (small) children. This is considered normal in the first year of life, as the sleep-wake cycle is still developing and waking up at night…
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…
Reflux comes from Latin “refluxus” and means backflow. Gastroesophageal reflux occurs when (acidic) stomach contents flow back into the esophagus. This happens when the sphincter muscle between the esophagus and…
