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Congenital Myopathy 17
A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that is caused by homozygous mutation in the MYOD1 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 congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that is caused by homozygous mutation in the MYOD1 gene
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.