Living with Pontocerebellar hypoplasia type 2
A rare condition affecting brain development, with a small head, delayed development, movement problems, seizures and trouble swallowing.
Understanding Pontocerebellar hypoplasia type 2
Signs vary but can include a small head (microcephaly), development delay with little voluntary movement, and intellectual disability. Movement disorders such as chorea, dystonia and spasticity can occur. People may also have trouble swallowing, vision problems, seizures and trouble communicating. It starts at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in motor development
- Small head that worsens over time (microcephaly)
- Feeding and swallowing difficulties
- Seizures, including infantile spasms
- Movement disorders such as chorea and dystonia
- Reduced vision
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
Changes in the TSEN54, TSEN2, TSEN34 or SEPSECS gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital pontocerebellar hypoplasia type 2; pch2; pch2 - pontocerebellar hypoplasia type 2
Patient organizations
- Fetal Health FoundationPontocerebellar hypoplasia type 2 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 2.
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