Living with Congenital pontocerebellar hypoplasia type 1
A rare genetic brain condition with an underdeveloped cerebellum and severe muscle weakness from birth.
Understanding Congenital pontocerebellar hypoplasia type 1
Babies and children have a small, underdeveloped cerebellum, the part of the brain that coordinates movement. The pons, a brainstem area that sends signals to the cerebellum, also does not develop fully. Anterior horn cells, which help the spinal cord send signals to muscles, break down, causing severe muscle weakness. It starts in newborns. Diagnosis is based on brain imaging and tests to rule out other causes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped cerebellum
- Low muscle tone (hypotonia)
- Muscle weakness and wasting
- Global developmental delay
- Feeding difficulties
- Vision problems, including involuntary eye movements
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
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 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 and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Fetal Health Foundation, Epilepsy 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 and other patient organizations
- 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 it is caused by changes in the EXOSC3, TSEN54, RARS2, and VRK1 genes. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: mrt32; norman disease; pch1; pch1 - pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia type 1
Patient organizations
- Fetal Health FoundationCongenital pontocerebellar hypoplasia type 1 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital pontocerebellar hypoplasia type 1.
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