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Pontocerebellar Hypoplasia Type 4
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, is caused by autosomal recessive inheritance of mutation in the TSEN54 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.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, is caused by autosomal recessive inheritance of mutation in the TSEN54 gene.
Resources
Join the Pontocerebellar Hypoplasia Type 4 community
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.