Neuromuscular Disease Foundation
You were just diagnosed. Here is where to start.
Step 1: Learn what this disease actually is and what it is not
GNE myopathy progresses slowly, over years and decades. It does not affect your face or your ability to swallow. It does not typically affect your heart or your breathing. It is not fatal. It will change how you move, but it will do so gradually enough that you have time to plan.
Read the Full Overview
Step 2: Connect with NDF
You don’t have to figure everything out on your own. Reach out to NDF, and we’ll connect you with an advocate who can listen, help you find resources, and guide you through your next steps.
You don’t need to have a specific question ready. We’re here to help you get started.
Connect with an Advocate
Step 3: Find a Specialist
Finding a doctor familiar with GNE myopathy can help you understand your diagnosis and plan your care. Our specialist directory is a place to start.
Find a Specialist
Step 4: Get Connected
Connecting with others who understand GNE myopathy can make a difference. Explore support groups and upcoming events to meet patients, families, and care partners, share experiences, and build connections.
Step 5: Learn about living with GNE myopathy
Your needs may change over time, and you don’t have to address everything at once. Explore practical information about daily life, mobility, accessibility, and finding support that works for you.
Living with GNE Myopathy
Step 6: Talk with your family about genetic screening
GNE myopathy is inherited in an autosomal recessive pattern. Parents are typically carriers, and siblings may be carriers, affected, or neither. Some affected relatives may not yet have symptoms.
A genetic counselor can help your family understand who may benefit from testing and which test is appropriate. Sharing your genetic test results can help guide that conversation.
For relatives considering having children, screening before pregnancy can help them understand their reproductive options and make informed decisions.
This can be a difficult conversation to start. You don’t have to explain everything yourself. Your care team or a genetic counselor can help.