Living with Pontocerebellar hypoplasia type 10
A rare genetic brain condition with severe developmental delay, a head that grows slowly, stiff muscles and seizures, starting from birth.
Understanding Pontocerebellar hypoplasia type 10
It starts around birth. People have severe delay in learning to move and speak, a head that grows more slowly over time (progressive microcephaly), stiffness that worsens (spasticity) and seizures. Some have distinctive facial features and nerve damage affecting feeling and movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe delays in movement and speech
- Intellectual disability
- Small head size (microcephaly)
- Stiff muscles (spasticity)
- Seizures
- Low muscle tone and poor head control
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 CLP1 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 CLP1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: clp1 (cleavage and polyadenylation factor i subunit 1) related pontocerebellar hypoplasia; clp1 non-syndromic pontocerebellar hypoplasia; clp1-related pontocerebellar hypoplasia; congenital pontocerebellar hypoplasia type 10; non-syndromic pontocerebellar hypoplasia caused by mutation in clp1; pch10
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 10.
Explore research for Pontocerebellar hypoplasia type 10
Explore actively recruiting Pontocerebellar hypoplasia type 10 studies with HealthSpark.
Find actively recruiting studies for Pontocerebellar hypoplasia type 10 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Pontocerebellar hypoplasia type 10 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Pontocerebellar hypoplasia type 10
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Pontocerebellar hypoplasia type 10 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.