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Stories of Pontocerebellar Hypoplasia

PONTOCEREBELLAR HYPOPLASIA STORIES

VIEWS

BY

MLSBKS0422'S STORY

My son had PCH1A, a mutation of the VRK1 gene.

360

7/10/17, 9:56 PM by Mlsbks0422

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...

321

7/11/17, 7:57 AM by Carlamoore22

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...

276

8/10/17, 5:03 PM by Benjamin Busque

LITTLE LUKE

It didn't take long after the wedding to find out we were pregnant ð¤°ð¼And expecting a little boy ð¶ð¼We couldn't be any more excited! The day finally arrived and labor and delivery was a breeze Luke came into this world on 7-...

269

7/10/17, 10:30 PM by Luke

GENETIC DIAGNOSIS

We received Colton's genetic diagnosis via whole exome sequencing in September of 2015. He has PCH2 due to the TSEN54 mutation.

What are the latest advances in Pontocerebellar Hypoplasia?