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Muscular Dystrophy-Dystroglycanopathy Type B1
A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and is caused by mutation to the POMT1 gene that encodes O-mannosyltransferase.
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 muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and is caused by mutation to the POMT1 gene that encodes O-mannosyltransferase.
Resources
Join the Muscular Dystrophy-Dystroglycanopathy Type B1 community
Talk with people who understand, share what helps, and find support from others living with muscular dystrophy-dystroglycanopathy type b1. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.