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Pontocerebellar Hypoplasia prognosis

What is the prognosis if you have Pontocerebellar Hypoplasia? Quality of life, limitations and expectatios of someone with Pontocerebellar Hypoplasia.

Pontocerebellar Hypoplasia prognosis
1 answer
In most cases, the disease is uniformly fatal early in life. Life span has ranged from death in the perinatal period to about 20-25 years of age. Only a few individuals-usually patients with PCH type 2-have survived to the second and third decades of life.
Posted Sep 13, 2018 by Benjamin Busque 2620

Pontocerebellar Hypoplasia prognosis

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World map of Pontocerebellar Hypoplasia

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Stories of Pontocerebellar Hypoplasia

PONTOCEREBELLAR HYPOPLASIA STORIES
Pontocerebellar Hypoplasia stories
MLSBKS0422'S STORY
My son had PCH1A, a mutation of the VRK1 gene.
Pontocerebellar Hypoplasia stories
BABY PAYTON
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...
Pontocerebellar Hypoplasia stories
BENJAMIN, PCH3
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...
Pontocerebellar Hypoplasia stories
LITTLE LUKE
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-...
Pontocerebellar Hypoplasia stories
GENETIC DIAGNOSIS
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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