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Centronuclear Myopathy 5
An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that is caused by homozygous or compound heterozygous mutation in SPEG on 2q35.
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
An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that is caused by homozygous or compound heterozygous mutation in SPEG on 2q35.
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.