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Can a genetic mutation cause developmental delay?

This Premium Q&A, reviewed and published, features a real conversation between an iCliniq user and a physician.

Patient's Query

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.
Answered by Dr. M. Pradeep Kumar

Education:

MBBS

Professional Bio:

Dr. M. Pradeep Kumar is a Consultant Clinical Geneticist with rich clinical experience in providing specialized care for patients with genetic and inherited conditions. He is dedicated to accurate diagnosis, personalized treatment, and guiding families through genetic counseling. His expertise includes pediatric and adult genetic disorders, rare disease evaluation, and advanced genetic testing to support early detection, management, and preventive healthcare.

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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

The probable cause is a genetic abnormality.

Investigations to be done

Investigations to be done include echo (echocardiogram).

Treatment plan

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

Preventive measures

-

Regarding follow up

Follow-up after three months.

Patient's Query

Hi doctor,

Thank you for the reply,

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

Please advise.

Thank you.

Answered by Dr. M. Pradeep Kumar

Education:

MBBS

Professional Bio:

Dr. M. Pradeep Kumar is a Consultant Clinical Geneticist with rich clinical experience in providing specialized care for patients with genetic and inherited conditions. He is dedicated to accurate diagnosis, personalized treatment, and guiding families through genetic counseling. His expertise includes pediatric and adult genetic disorders, rare disease evaluation, and advanced genetic testing to support early detection, management, and preventive healthcare.

This doctor is not available for online consultations on the platform anymore.

Consult other doctors in the same speciality

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.

Medically reviewed by Dr. Meera Premanand
Published At February 5, 2022
Reviewed At August 11, 2025

Education:

MBBS

Professional Bio:

Dr. M. Pradeep Kumar is a Consultant Clinical Geneticist with rich clinical experience in providing specialized care for patients with genetic and inherited conditions. He is dedicated to accurate diagnosis, personalized treatment, and guiding families through genetic counseling. His expertise includes pediatric and adult genetic disorders, rare disease evaluation, and advanced genetic testing to support early detection, management, and preventive healthcare.

This doctor is not available for online consultations on the platform anymore.

Consult other doctors in the same speciality

Education:

BDS

Professional Bio:

Dr. Meera Premanand is a dedicated Dentist known for providing comprehensive dental care with a focus on patient comfort and oral health. She combines modern dental techniques with personalized treatment plans to ensure healthy smiles and long-term dental well-being for her patients.

This doctor is not available for online consultations on the platform anymore.

Consult other doctors in the same speciality

Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. M. Pradeep Kumar
Dr. M. Pradeep Kumar

Clinical Genetics

Education:

MBBS

Professional Bio:

Dr. M. Pradeep Kumar is a Consultant Clinical Geneticist with rich clinical experience in providing specialized care for patients with genetic and inherited conditions. He is dedicated to accurate diagnosis, personalized treatment, and guiding families through genetic counseling. His expertise includes pediatric and adult genetic disorders, rare disease evaluation, and advanced genetic testing to support early detection, management, and preventive healthcare.

This doctor is not available for online consultations on the platform anymore.

Consult other doctors in the same speciality
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