Living with Pontocerebellar hypoplasia type 8
A very rare genetic brain condition with a head that grows slowly, feeding trouble, severe developmental delay and joint differences in the legs.
Understanding Pontocerebellar hypoplasia type 8
People have a head that grows slowly (progressive microencephaly), feeding difficulty and severe developmental delay, although walking may be achieved. Low muscle tone often comes with stiffness and strong reflexes in the legs, plus leg joint differences. Some have complex seizures. MRI shows an underdeveloped pons and cerebellum and reduced white matter.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe developmental delay
- Delayed walking
- Low muscle tone with brisk reflexes
- Joint stiffness in the legs (arthrogryposis)
- Vision problems and inward-turning eyes
- Small cerebellum and thin corpus callosum
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 CHMP1A 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 CHMP1A gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chmp1a non-syndromic pontocerebellar hypoplasia; congenital pontocerebellar hypoplasia type 8; non-syndromic pontocerebellar hypoplasia caused by mutation in chmp1a; pch8; pch8 - pontocerebellar hypoplasia type 8; pontocerebellar hypoplasia due to chmp1a (charged multivesicular body protein 1a) mutation
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 8.
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