That's a really important question, and it's clear how much you care about your son's health. To clarify — the TTN gene is not the same as the dystrophin gene that causes DMD or BMD. DMD and BMD are caused by mutations in the dystrophin (DMD) gene, which is located on the X chromosome.
The TTN gene is a separate gene Show Full Answer
That's a really important question, and it's clear how much you care about your son's health. To clarify — the TTN gene is not the same as the dystrophin gene that causes DMD or BMD. DMD and BMD are caused by mutations in the dystrophin (DMD) gene, which is located on the X chromosome.
The TTN gene is a separate gene entirely. So a positive result for a TTN gene variant does not mean your son has DMD or BMD. Given your family history of both BMD and DMD, it would be worth asking your son's doctor specifically about testing for the dystrophin gene mutation. Here's why this matters:
- DMD and BMD are caused by mutations in the dystrophin gene
- Genetic testing for DMD/BMD is the most reliable way to confirm or rule out these conditions
- Hypotonia (low muscle tone) can be associated with muscular dystrophy, so it's worth discussing with a specialist
A referral to a neurologist or genetic counselor who specializes in neuromuscular conditions would be a strong next step. They can review your family history alongside your son's current genetic results and symptoms to give you a clearer picture.
The physical therapy your son has been receiving is a great proactive step regardless of the outcome.
May 7
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