Pontocerebellar hypoplasia type 1

What causes pontocerebellar hypoplasia type 1?

About half of all cases of pontocerebellar hypoplasia type 1 (PCH1) are caused by mutations (changes) in the EXOSC3 gene . Other genes that have been associated with PCH1 include TSEN54 , RARS2 , and VRK1 . These genes are normally responsible for helping the body process RNA, which is a form of genetic information similar to DNA. When RNA cannot be processed properly, the body does not receive instructions about how it should work and develop. It is thought that the brain and muscles are particularly susceptible to changes in RNA processing. Therefore, when there are changes in any of the genes mentioned above, the body does not process RNA properly, causing the brain and muscles to not work properly.

Last updated on 05-01-20

How is pontocerebellar hypoplasia type 1 diagnosed?

Pontocerebellar hypoplasia type 1 (PCH1) is typically diagnosed when healthcare professionals see signs and symptoms consistent with the disease. Tests that may be ordered include an MRI or CT scan of the brain to visualize the cerebellum and the pons. Other tests such as metabolic tests may also be completed to rule out other causes of the symptoms. If PCH1 is the suspected cause of the symptoms, genetic testing may be done to confirm the diagnosis.

Last updated on 05-01-20

How is pontocerebellar hypoplasia type 1 inherited?

Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive manner. This means that both copies of the EXOSC3 , TSEN54 , RARS2 , or __VRK1 genes must be changed in order to have symptoms of the disease. We inherit one copy of each gene from our mother and the other from our father.

People with a mutation in only one copy of a gene causing PCH1 are known as carriers. Carriers typically do not show signs and symptoms of the disease. When two carriers of PCH1 have children together, for each child there is a:

  • 25% chance that the child will have PCH1
  • 50% chance that the child will be a carrier of PCH1 like the parents
  • 25% chance that the child will have two working copies of the gene, so the child will not have PCH1 and will not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people affected by pontocerebellar hypoplasia type 1?

Unfortunately, most children with pontocerebellar hypoplasia type 1 (PCH1) pass away within the first year of life. In some cases, affected individuals have survived later into childhood or into early adulthood. These individuals are most often those who did not show signs and symptoms right at birth, but instead developed symptoms during the first few months of life. Certain particular mutations within the EXOSC3 __gene may be associated with a better prognosis, including a longer estimated survival time.

Last updated on 05-01-20

How might pontocerebellar hypoplasia type 1 be treated?

Treatment for pontocerebellar hypoplasia type 1 (PCH1) is aimed at treating the signs and symptoms present in each individual. Management options may include physical therapy or braces on the limbs to help with joint contractures, ventilation machines for breathing assistance, anti-seizure medication, and a feeding tube if the child is not able to eat without one. These treatment options are aimed at relieving some of the symptoms of PCH1, but there is no cure for the disease.

Last updated on 05-01-20

Name: Fetal Health Foundation 9786 S Holland Street
Littleton, CO, 80127 , United States
Phone: 303-932-0553 Toll Free: 877-789-4673 Email: info@fetalhealthfoundation.org Url: http://www.fetalhealthfoundation.org/
Name: The Joshua Deeth Foundation 38 James Square Second Floor
Room 2
Crieff, PH7 3EY, Scotland
Phone: 01764650949 Url: http://www.thejoshuadeethfoundation.co.uk/
Pontocerebellar hypoplasia Genetics Home Reference (GHR). November 2014; Reference Link Omar S and Ajibola A. Pontocerebellar Hypoplasia National Organization for Rare Disorders (NORD). 2012; Reference Link Pontocerebellar Hypoplasia Type 1A; PCH1A Online Mendelian Inheritance in Man. April 14, 2017; Reference Link Namavar Y, Barth PG, Poll-The BT, and Baas F. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia Orphanet J Rare Dis. 2011; 6(50). Reference Link Eggens VRC, Barth PG, and Baas F. EXOSC3-Related Pontocerebellar Hypoplasia GeneReviews. August 21, 2014; Reference Link Baas F. Pontocerebellar hypoplasia type 1 Orphanet. July 2013; Reference Link

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