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Q. Is my son unable to stand properly because of his genetic mutation?

Answered by
Dr. M. Pradeep Kumar
and medically reviewed by Dr.Meera Premanand
This is a premium question & answer published on Feb 05, 2022

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.

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#

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.


The Probable causes:

Genetic abnormality.

Investigations to be done:

Echo (echocardiogram).

Treatment plan:

Tablet Deflazacort (Deflazacort oral suspension) 6 mg two tablets morning, and gentle physiotherapy.

Preventive measures:

-

Regarding follow up:

follow-up after 3 months.

Thank you doctor,

Is it curable? Could you please elaborate on treatment and management? Please advise.

Thank you.

#

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 in research level. We must preserve the function of muscles as much as possible. I hope it is clear.

Thank you.


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