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▷ Pontocerebellar Hypoplasia and depression

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.

Pontocerebellar Hypoplasia and depression