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Pontocerebellar Hypoplasia Type 1D
A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that is caused by homozygous or compound heterozygous mutation in the EXOSC9 gene on chromoso
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that is caused by homozygous or compound heterozygous mutation in the EXOSC9 gene on chromoso
Resources
Join the Pontocerebellar Hypoplasia Type 1D community
Talk with people who understand, share what helps, and find support from others living with pontocerebellar hypoplasia type 1d. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.