Living with Pontocerebellar hypoplasia type 1B
An inherited brain condition present at birth that affects the cerebellum and spinal nerve cells, causing muscle weakness and developmental delay.
Understanding Pontocerebellar hypoplasia type 1B
It causes the cerebellum and the spinal motor neurons to break down. Symptoms include muscle weakness, a smaller than average head and developmental delay. The age at onset, severity and how it progresses vary from person to person.
Signs & symptoms
GARD lists these symptoms as less common:
- Muscle weakness
- Smaller than average head size
- Developmental delay
- Seizures
- Absent speech
- Foot differences
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
Changes in the EXOSC3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: exosc3 non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in exosc3
Patient organizations
- Fetal Health FoundationPontocerebellar hypoplasia type 1B · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 1B.
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