Community
Congenital Myasthenic Syndrome 22
A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that is caused by homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p2
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 congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that is caused by homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p2
Resources
Join the Congenital Myasthenic Syndrome 22 community
Talk with people who understand, share what helps, and find support from others living with congenital myasthenic syndrome 22. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.