Living with Pontocerebellar hypoplasia type 6
A rare genetic brain condition with low muscle tone and seizures at birth, then a head that grows slowly, stiff muscles and high lactic acid.
Understanding Pontocerebellar hypoplasia type 6
At birth, babies have low muscle tone, muscle jerks, epilepsy and trouble swallowing. From infancy, the head grows more slowly, muscles become stiff (spasticity) and lactic acid builds up in the body (lactic acidosis).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very delayed development
- Low muscle tone
- Seizures
- Feeding trouble and poor suck
- Small head (microcephaly)
- Stiff muscles (spasticity)
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 RARS2 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, Epilepsy Foundation and United Mitochondrial Disease 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, United Mitochondrial Disease 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 RARS2 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance. Autosomal recessive means a child inherits a changed copy of the gene from each parent.
Also known as: congenital pontocerebellar hypoplasia type 6; fatal infantile encephalopathy with mitochondrial respiratory chain defect; fatal infantile encephalopathy with mitochondrial respiratory chain defects; non-syndromic pontocerebellar hypoplasia caused by mutation in rars2; pch6; pch6 - pontocerebellar hypoplasia type 6
Patient organizations
- Fetal Health FoundationPontocerebellar hypoplasia type 6 · United States
- CureARSPontocerebellar hypoplasia type 6 · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontocerebellar hypoplasia type 6.
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