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Which are the symptoms of Pontocerebellar Hypoplasia?

Symptoms of Pontocerebellar Hypoplasia reported by real patients, from the most common to the most limiting, plus a medically reviewed summary with sources.

Pontocerebellar Hypoplasia symptoms
2 answers
Muscular atrophy, spastic muscles, difficulty with eating/reflux.

Posted Aug 10, 2017 by Benjamin Busque 2620
If I could get rid of five symptoms that hinder quality of life they would be..

• Refractory Epilepsy

• The need of feeding tube placement due to difficulties with swallowing caused by lack of motor control and resulting in spillage (into the lungs) causing pneumonia

• I would like to kick nonverbal out with,
I'd give anything to answer her "why's" and "what's." It would be interesting to know her thoughts.

• Non ambulatory, oh to hear the putter-patter of feet running to you and wipe those fingerprints away that make you the sweetest crafts

Last but not least,

The main thing I would take away if I could..

• The expiration date they label on your child once they are diagnosed.
Not all, but some outlive the ten years PCH type II. Some don't get that.

Posted Feb 27, 2020 by Alisa Dorsey 200

Pontocerebellar Hypoplasia symptoms

Pontocerebellar Hypoplasia life expectancy

What is the life expectancy of someone with Pontocerebellar Hypoplasia?

3 answers
Celebrities with Pontocerebellar Hypoplasia

Celebrities with Pontocerebellar Hypoplasia

2 answers
Is Pontocerebellar Hypoplasia hereditary?

Is Pontocerebellar Hypoplasia hereditary?

3 answers
Is Pontocerebellar Hypoplasia contagious?

Is Pontocerebellar Hypoplasia contagious?

3 answers
ICD9 and ICD10 codes of Pontocerebellar Hypoplasia

ICD10 code of Pontocerebellar Hypoplasia and ICD9 code

2 answers
Natural treatment of Pontocerebellar Hypoplasia

Is there any natural treatment for Pontocerebellar Hypoplasia?

3 answers
Living with Pontocerebellar Hypoplasia

Living with Pontocerebellar Hypoplasia. How to live with Pontocerebellar Hy...

2 answers
Pontocerebellar Hypoplasia diet

Pontocerebellar Hypoplasia diet. Is there a diet which improves the quality...

3 answers

World map of Pontocerebellar Hypoplasia

Find people with Pontocerebellar Hypoplasia through the map. Connect with them and share experiences. Join the Pontocerebellar Hypoplasia community.

Stories of Pontocerebellar Hypoplasia

PONTOCEREBELLAR HYPOPLASIA STORIES
Pontocerebellar Hypoplasia stories
My son had PCH1A, a mutation of the VRK1 gene.
Pontocerebellar Hypoplasia stories
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
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
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
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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