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Congenital Myasthenic Syndrome 20
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that is caused by homozygous or compound heterozygous mutation in the SLC5A7 gene on ch
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 autosomal recessive inheritance of severe hypotonia associated with episodic apnea that is caused by homozygous or compound heterozygous mutation in the SLC5A7 gene on ch
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.