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Epidermolysis Bullosa Simplex with Muscular Dystrophy
An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that is caused by homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
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.
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Overview
An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that is caused by homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.