Living with Pontocerebellar hypoplasia type 5
A very rare, severe brain condition that begins before birth, with muscle jerks or seizure-like activity and a small head.
Understanding Pontocerebellar hypoplasia type 5
It starts in the fetus with muscle jerks (clonus) or seizure-like activity that continue in infancy, and a small head (microencephaly). GARD says there is a lot of overlap with type 4.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its description mentions these:
- Muscle jerks (clonus) before birth
- Seizure-like activity
- Small head (microencephaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Fetal Health Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Fetal Health Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Fetal Health Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says this condition is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: congenital pontocerebellar hypoplasia type 5; fetal onset olivopontocerebellar hypoplasia; fetal-onset olivopontocerebellar hypoplasia; pch5; pch5 - pontocerebellar hypoplasia type 5
Patient organizations
- Fetal Health FoundationPontocerebellar hypoplasia type 5 · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 5.
Explore research for Pontocerebellar hypoplasia type 5
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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