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Pontocerebellar Hypoplasia

What is Pontocerebellar Hypoplasia ?

Pontocerebellar Hypoplasia is a group of rare degenerative neurological disorders resulting in the atrophy of the cerebellar cortex.

 

Pontocerebellar Hypoplasia is a group of rare degenerative neurological disorders resulting in the atrophy of the cerebellar cortex.
Acknowledgement of Pontocerebellar Hypoplasia has not been added yet.
Prevalence Information of Pontocerebellar Hypoplasia has not been added yet.
Synonyms for Pontocerebellar Hypoplasia has not been added yet.
Cause of Pontocerebellar Hypoplasia has not been added yet.
Symptoms for Pontocerebellar Hypoplasia has not been added yet.
Diagnosis of Pontocerebellar Hypoplasia has not been added yet.
Diagnostic tests of Pontocerebellar Hypoplasia has not been added yet
Treatments of Pontocerebellar Hypoplasia has not been added yet.
Prognosis of Pontocerebellar Hypoplasia has not been added yet.
Tips or Suggestions of Pontocerebellar Hypoplasia has not been added yet.
References of Pontocerebellar Hypoplasia has not been added yet.
Older Children Created by Tffortytwo
Last updated 10 Mar 2014, 01:31 PM

Posted by Tffortytwo
10 Mar 2014, 01:31 PM

Thanks - found the group after I posted this.

Posted by secretwindow
9 Mar 2014, 05:57 PM

There are some on facebook in a group called Pontocerebellar Hypoplasia (All types), most of them are young but there are one or two in there teens...I don't know if you know of this group already but it is worth a try :) I am in it.

Posted by Tffortytwo
15 Jan 2014, 10:46 PM

My son, who turned 19 today, was diagnosed just last year with PCH 2. So far we have been unable to find other families with older teens and adults with PCH 2. So far MRIs have shown no change since his first at age 2 years. . .

Hello Created by dhbritish
Last updated 23 Sep 2010, 08:46 PM

Posted by dhbritish
23 Sep 2010, 08:46 PM

Just wanted to say hi. Please see my profile for our story, ask questions, share info. etc...thank you! ~Heather

Type? Created by secretwindow
Last updated 1 Sep 2010, 03:56 AM

Posted by anne
1 Sep 2010, 03:56 AM

hi sorry i haven't been on here for a long time, my son harvey was ruled out for type 2 and 1 but sadly he died before the rest of the diagnoses tests could be done 6 months ago now. he was 13 months old . i'm sorry to hear your grand son has it also. there is a group in the yahoo health groups with about 50 members who share information (mainly about type 2 ) but alot of the symptoms and medications and issues are the same. i highly recommend joining as they are a great support and a wealth of information. here is the link for you to follow, just introduce yourself, i hope you find the support you are looking for xxx anne http://groups.yahoo.com/group/PCHType2#n=home&c=home&p=0&v=none just copy this link above and paste it into the search bar at the top of the page, my email address is annoid2000@yahoo.com please feel free to contact me x

Posted by secretwindow
31 Aug 2010, 04:40 PM

Ben, my grandson has type 3, only 5 in the world with this type what type do yours have and what are the signs and symptoms?

ages Created by secretwindow
Last updated 30 Jun 2010, 08:32 PM

Posted by secretwindow
30 Jun 2010, 08:32 PM

How old is anyone out there with this disorder? My grandson is turning 2 in August.

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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Katarina has just been diagnosed with PCH type 2
my Son had Pontocerebellar Hypoplasia, that lived to the age 10.
I am a mother of 6. My youngest was diagnosed with PCH in May 2015 by MRI. She is 20 mths old. We did the initial genetic testing for PCH, but could not get enough blood. So, it may have been a...
I am the mother of a 3 year old boy. Guess his name? He was born @ 30 weeks with an unknown type of pch along with an unknown congenital genetic defect. We spend most of our days looking @ drs who...
I am the mom of three gorgeous little boys, Alex, 13, Trey (Sept. 26, 2006-Nov 9, 2006...cardiomyopathy and liver disease) and Chase, 3, who may have an unknown type of PCH. We just got our results...
Have a grandson with pontocerebellar hypoplasia type 3 whom I look after on a daily basis, just looking for support and information if anyone has anything out there.....
mum to harvey who has pontocerebellar hypoplasia, before that an architect

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Discussion Forum

Older Children

Created by Tffortytwo | Last updated 10 Mar 2014, 01:31 PM

Hello

Created by dhbritish | Last updated 23 Sep 2010, 08:46 PM

Type?

Created by secretwindow | Last updated 1 Sep 2010, 03:56 AM

ages

Created by secretwindow | Last updated 30 Jun 2010, 08:32 PM


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