Can a genetic mutation cause developmental delay?

Question

Hello doctor,

My son is seven years old and has a genetic mutation. He is unable to stand properly, but he usually walks fine. I have sent you the reports. I request your guidance in his treatment.

Thank you.

Answer 1

Hi,

Welcome to icliniq.com.

I went through the history and the report (attachments removed to protect the patient's identity). The diagnosis of the child is Duchenne muscular dystrophy. It is a progressively weakening muscle abnormality.

I hope this helps.

Thank you.

Answer 2

Hello,

Welcome back to icliniq.com.

It is a progressive disorder. You can postpone weakness with steroids and gentle physiotherapy. There are no approved medications for this. All at the research level. We must preserve the function of muscles as much as possible.

I hope it is clear.

Thank you.