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What is the prevalence of Pontocerebellar Hypoplasia?

How many people does Pontocerebellar Hypoplasia affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia (PCH) is a rare genetic disorder characterized by underdevelopment of the pons and cerebellum in the brain. It is estimated to affect approximately 1 in every 100,000 to 200,000 individuals worldwide. PCH is classified into several subtypes, each with varying degrees of severity and associated symptoms. The condition typically manifests in early infancy, leading to developmental delays, impaired motor skills, and intellectual disabilities. Although PCH is considered rare, its impact on affected individuals and their families can be significant.



Pontocerebellar Hypoplasia (PCH) is a rare genetic disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum in the brain. It is a heterogeneous condition with several subtypes, each varying in severity and clinical features.



Due to its rarity, the exact prevalence of PCH is not well-established. However, it is considered to be an extremely rare disorder. The prevalence varies among different subtypes of PCH, with some being more common than others.



Research and medical literature on PCH are limited, making it challenging to provide precise prevalence figures. However, available studies suggest that the overall prevalence of PCH is estimated to be less than 1 in 100,000 individuals.



It is important to note that PCH can have a significant impact on affected individuals and their families. Early diagnosis and appropriate management are crucial in providing supportive care and improving the quality of life for those living with PCH.


Diseasemaps
3 answers
PCH is extremely rare and affects a low number of individuals worldwide.

Posted Aug 10, 2017 by Benjamin Busque 2620
The exact prevalence is unknown, but it's incredibly rare. There are probably less than 1,000 children worldwide, and more likely less than 2-300. In one Facebook group, there are around 100 children represented from around the world.

Posted Sep 12, 2018 by Christina 1900

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Stories of Pontocerebellar Hypoplasia

PONTOCEREBELLAR HYPOPLASIA STORIES
Pontocerebellar Hypoplasia stories
My son had PCH1A, a mutation of the VRK1 gene.
Pontocerebellar Hypoplasia stories
Our beautiful little girl was diagnosed when she was 4 months old when she became very sick and ended up in the hospital for a 2 week stay. She was diagnosed by MRI. We have yet to receive a genetic diagnosis. She is now almost a year old and she has...
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Ben was diagnosed at the age of one and a half with PCH3 through MRI.   Ben's condition includes Optic Nerve Atrophy, Cortical Visual Impairment, Epilepsy, Microcephaly, Club Foot, etc.  He was born in 2008 and is maintains a small stature (approx...
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It didn't take long after the wedding to find out we were pregnant 🤰🏼And expecting a little boy 👶🏼We couldn't be any more excited! The day finally arrived and labor and delivery was a breeze Luke came into this world on 7-...
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We received Colton's genetic diagnosis via whole exome sequencing in September of 2015. He has PCH2 due to the TSEN54 mutation.  

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