Searching for Pontocerebellar Hypoplasia Support information? Find all needed info by using official links provided below.
https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia
Dec 18, 2012 · Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons.The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals …
https://rarediseases.org/rare-diseases/pontocerebellar-hypoplasia/
Pontocerebellar hypoplasia is considered to be inherited as an autosomal recessive disorder because it occurs mostly in consanguineous families (families where both parents are related). ... Attention should be paid to issues such as day care, respite care, and linking up the patients with available social support services. Investigational ...
https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2
39 rows · Jan 11, 2016 · Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects …
Welcome. Darren and Sonia Sheppard's first son Cody was born on the 28th April 2004 and was diagnosed with a rare condition called Pontocerebellar Hypoplasia type 2. The Genetic Specialist advised and reassured Darren and Sonia, that it would be very unlikely for them to have another child with the same condition.
https://www.thinkgenetic.com/diseases/pontocerebellar-hypoplasia/organizations/7243
Because pontocerebellar hypoplasia is so rare, no support groups dedicated to it are available. There are two closed groups on Facebook dedicated to pontocerebellar hypoplasia. One is Pontocerebellar Hypoplasia Parents and Professionals. They say "This is a forum for all people caring for and treati
https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5
Jul 01, 2013 · Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death.There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
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