Living with Pontocerebellar hypoplasia type 4
A severe genetic brain condition starting before birth, with extra amniotic fluid, stiff joints and muscles, and breathing problems.
Understanding Pontocerebellar hypoplasia type 4
It begins in pregnancy with extra amniotic fluid (polyhydramnios) and joint stiffness (contractures). After birth, babies have increased muscle tone, severe muscle jerks and a very small head. Breathing is weak and may need help from a ventilator. Seizures can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra amniotic fluid during pregnancy
- Stiff, fixed joints (arthrogryposis)
- Increased muscle tone
- Muscle jerks (myoclonus)
- Very small head (microcephaly)
- Breathing difficulty needing a ventilator
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 TSEN54 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); 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 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 4; fatal infantile encephalopathy with olivopontocerebellar hypoplasia; olivopontocerebellar hypoplasia; pch4; pch4 - pontocerebellar hypoplasia type 4; tsen54-related pontocerebellar hypoplasia
Patient organizations
- Fetal Health FoundationPontocerebellar hypoplasia type 4 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 4.
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