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Child diagnosed for Spinal muscular Atrophy. Treatment?

DOCTOR OF THE MONTH - Feb 2013
Feb 2013
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Pediatrician
Practicing since : 2002
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Question
My son is 1 year old & is diagnosed for Spinal Muscular Atrophy 1 month back.
Please help me if you have any medicine or treatment for this.
Posted Wed, 23 Oct 2013 in Brain and Spine
 
 
Answered by Dr. E Venkata Ramana 1 hour later
Brief Answer:
no definite drug or treatment is available

Detailed Answer:
Hi,

Thank you for your query on Healthcare Magic.

Spinal muscular atrophy is due to degeneration of motor cells in the anterior horn of spinal cord due to which denervation of muscles occur leading to atrophy of the muscles.

There is no definite treatment or medicine is available to cure the condition.

The treatment is mostly supportive like physiotherapy and orthopedic methods to prevent the contractures of the muscles.

The prognosis depends on the type of spinal mucular atrophy.

Hope I have answered your query, if you have any clarification please let me know.

Regards.
Above answer was peer-reviewed by
 
Follow-up: Child diagnosed for Spinal muscular Atrophy. Treatment? 10 hours later
Thanks Dr. for reply.

With physiotherapy OR occupational therapy, can he be able to stand / walk and live very basic life without support from any other.
Or will he be dependet on us whole life.

Secondly, I have read that in Australia Doctors are at advanced stage of reseach of drugs for SMA. Is this true?
And if we need to volunteer for this research on our kid how can we proceed. Thanks if you can help me in this.
 
 
Answered by Dr. E Venkata Ramana 57 minutes later
Brief Answer:
Supportive therapy role is not up to the level.

Detailed Answer:
Hi,

Thank you for getting back.

I suggest you to upload the report again as I am not able to open.

The severity, disability, complications, and survival depends on the type of Spinal muscular atrophy.

And coming to the outcome of spinal muscular atrophy (SMA) depends on the type of disease(like SMA-1, SMA-2, SMA-3).

Spinal muscular atrophy is a progressively degenerative disease. This means that as the age increases, the severity of problems will increase.

The severe form is SMA-1, which present in infancy and it progresses rapidly and complications occur early in the infancy.

SMA-2 occurs late in the infancy, presents with progressive weakness and children will be confined to an electric wheel chair and severely handicapped.

Type 3 SMA is a mild type and it progresses slowly. In this type the outcome of disease is better in comparison to the above 2 types.

As your child diagnosed SMA below the age of 1 year, I am assuming it to be SMA type 1 but need the diagnosis from your side in the form of his discharge summary or a confirmation diagnostic report. If possible kindly upload it to advise you in a better way regarding the outcome of the disease.

And the role of supportive therapy is not up to mark as the disease is progressive by itself.

Wit physiotherapy, occupational therapy, and with orthopedic maneuvers we can support the child to some extent to improve the quality of life, but as the disease is progressive at some point this supportive measures may not be enough.

His dependency will increase as the age increases because of progressive weakness of the muscles.

So much research is done and is going on, but it is done on mouse models and till now there is no drug available to stop the progress or treat this condition.

If you want to volunteer for this research, I suggest you to consult the pediatric neurologist in your locality so that he will help you regarding this issue.

Hope I have answered your query, if you have any clarification please let me know.

Regards.
Above answer was peer-reviewed by
 
Follow-up: Child diagnosed for Spinal muscular Atrophy. Treatment? 4 hours later
Thanks Dr.,

I have uploaded the SMA test report as asked by you. Please see & revert.
 
 
Answered by Dr. E Venkata Ramana 7 minutes later
Brief Answer:
Did not get the report.

Detailed Answer:
Hi XXXXX,

You are welcome.

Thank you for getting back.

I am not able to see the SMA report which you have uploaded with this query.

I suggest you to upload the report properly with the help of technical team of Healthcare Magic.

Awaiting for the report.

Regards.
Above answer was peer-reviewed by
 
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