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Pontocerebellar Hypoplasia Type 8
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, is caused by autosomal recessive inheritance of mutation in the CHMP1A gene.
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.
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Overview
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, is caused by autosomal recessive inheritance of mutation in the CHMP1A gene.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.