Living with Pontocerebellar hypoplasia type 9
A rare genetic brain condition with slowly shrinking cerebellum and brainstem, severe developmental delay, stiff muscles and seizures.
Understanding Pontocerebellar hypoplasia type 9
It begins around birth or in infancy. The head grows more slowly after birth (progressive microcephaly) and the corpus callosum, which joins the two halves of the brain, is underdeveloped. People typically have profound developmental delay, stiffness in the arms and legs, seizures and vision problems that come from the brain. MRI shows a distinctive "figure of 8" look of the midbrain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound developmental delay
- Stiff muscles (spasticity)
- Seizures
- No speech
- Vision problems from the brain (cerebral visual impairment)
- Trouble swallowing
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.
- 3Consider genetic testing
Changes in AMPD2 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
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: 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 Epilepsy 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 AMPD2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ampd2 non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in ampd2; pch9
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 9.
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