Living with Pontocerebellar hypoplasia type 3
A rare genetic brain condition with low muscle tone and swallowing trouble at birth, then seizures, optic nerve damage and short stature.
Understanding Pontocerebellar hypoplasia type 3
Babies have low muscle tone and trouble swallowing. Seizures, optic nerve damage and short stature follow from infancy. GARD says the movement disorders seen in other forms are absent. It starts around birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delay in all areas of development
- Low muscle tone in the trunk
- Seizures
- Brisk reflexes
- Underdeveloped pons and corpus callosum
- Loss of brain tissue in the cerebellum and cerebrum
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PCLO are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Eye disease specialists (ophthalmologists); 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
Changes in the PCLO gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cerebellar atrophy with progressive microcephaly; clam; congenital pontocerebellar hypoplasia type 3; non-syndromic pontocerebellar hypoplasia caused by mutation in pclo; pch with optic atrophy; pch without dyskinesia
Patient organizations
- Fetal Health FoundationPontocerebellar hypoplasia type 3 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 3.
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