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Ullrich Congenital Muscular Dystrophy 2
An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that is caused by homozygous mutation in the COL12A1 gene on chromosome 6q.
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 Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that is caused by homozygous mutation in the COL12A1 gene on chromosome 6q.
Resources
Join the Ullrich Congenital Muscular Dystrophy 2 community
Talk with people who understand, share what helps, and find support from others living with ullrich congenital muscular dystrophy 2. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.