Living with Pontocerebellar hypoplasia type 7
A very rare genetic brain condition with low muscle tone, slow head growth, seizures and differences in genital development in people with XY chromosomes.
Understanding Pontocerebellar hypoplasia type 7
In newborns it shows as low muscle tone. From infancy there is slow head growth (progressive microcephaly), pauses in breathing, poor feeding and seizures. In people with XY chromosomes it comes with a difference of sex development, such as a small penis or no palpable gonads. In people with XX chromosomes, it may show as only the brain condition. MRI shows an underdeveloped pons and cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Small head size (microcephaly)
- Delayed development and intellectual disability
- Seizures and poor feeding
- Differences in genital development
- Muscle twitching and wasting
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 TOE1 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 TOE1 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 7; non-syndromic pontocerebellar hypoplasia caused by mutation in toe1; pch7; pch7 - pontocerebellar hypoplasia type 7; pontocerebellar hypoplasia-46,xy disorder of sex development syndrome; toe1 non-syndromic pontocerebellar hypoplasia
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 7.
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