On May 2, 2024, we went live at www.PCH2cure.org – the new knowledge and exchange platform for pontocerebellar hypoplasia type 2. We hope all visitors to this website gain exciting…
In July 2024, 28 PCH children and their families will set off on Cruise4Life, a one-of-a-kind research cruise. Lots of doctors and researchers from the PCH2cure project will spend a…
“He Was Blessed With Many Years” Anke Roesch from Germany takes us on her family’s journey with a PCH2 diagnosis. She talks about the years with her son Sebastian -…
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.
In their 1990 article “The inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset”, Barth et al. reported on a neurodegenerative disorder observed in seven children from five related families.
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…
