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Dystonia 37, Early-Onset with Striatal Lesions
A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that is caused by homozygous or compound heterozygous mutations in the NUP54 gene on chro
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 dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that is caused by homozygous or compound heterozygous mutations in the NUP54 gene on chro
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.