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Can early treatment of dominant optic atrophy stop the symptoms from developing?

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Posted on Thu, 4 Jun 2020
Question: Hello- my daughter who is 16 started having rapid decreased vision, then 2 months later had sudden onset leg spasticity with scissor gate. She was unable to walk without crutches and says everything is blurry unless she focuses in on something. We took her to neurologists, orthopedic doctors, ophthalmologists, neuro ophthalmologist, she was going to PT twice a week for 2 years to regain leg function. The spasticity went away, but still has weakness and numbness. She tires easily, etc. She wore AFO's which helped. The problem is that al the doctors have blown us off, saying it was psychological, one doctor even telling me she was faking. This was even after abnormal VEP/ERG's and seeing Visual physiologist. We continued to search and took her to doctor #10, who looked at her eyes in within minutes he said she has Dominant Optic atrophy. He wants to get all of her records and see us in 2 weeks to go over everything. I was wondering if you could explain how these symptoms go together and why did all of these other doctors miss this? Also, if they had diagnosed her correctly 2.5 years ago, would all of these symptoms have continued? Should we expect more symptoms or things to get worse? Thank You, XXXXXXX
doctor
Answered by Dr. Suresh Heijebu (5 hours later)
Brief Answer:
Possible muscular dystrophy. Require diagnostic confirmation

Detailed Answer:
Hello Ma'am,

I can certainly understand your concern for your daughter,

I have worked through your attached query in detail...

Many of your daughter's symptoms (including the dominant optic atrophy) are pointing towards muscular dystrophy, a genetic muscle disorder.

Usually, such disorders are diagnosed by muscle biopsy and muscle enzyme study.

Generally, such diseases run a chronic progressive course and result in multiple disabilities.

Medications like oral steroids may delay the progression of such diseases to some extent.

Please check with your physician if he shares my view and if he can prescribe these medications to your daughter.

Post your further queries if any.
Thank you


Above answer was peer-reviewed by : Dr. Arnab Banerjee
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Follow up: Dr. Suresh Heijebu (3 days later)
With muscular dystrophy, would her leg spasticity have improved though? She began improving leg function after a year and a half, wearing AFO's, and going to physical therapy. She had bilateral drop foot until about 6 months ago, and after a trial of walk aid, she started to get flexion back. I just though muscular dystrophy was a disease that gets worse over time??
doctor
Answered by Dr. Suresh Heijebu (18 hours later)
Brief Answer:
Further imaging tests are required

Detailed Answer:
Hello Sir

I have worked through your attached query in detail

As per your narrated clinical history, the possibility of NMOSDs have to be considered along with muscular dystrophy which has multiple clinical variants.

Muscular dystrophies are certainly progressive forms of disease.

NMODs stand for Neuromyelitis optica spectrum disorders which are due to autoimmune (inflammatory disorders) of brain and spinal cord.

It's advisable to consider the following tests at the earliest to determine further course of action

1. MRI brain and orbits
2. MRI Spine
3. Aquaporin 4 antibody ( AqP4) assessment

Please check with your physician if he shares my view and if can prescribe these tests to your daughter

Post your further queries if any
Thank you
Above answer was peer-reviewed by : Dr. Remy Koshy
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Follow up: Dr. Suresh Heijebu (3 hours later)
Hello
I will give you a quick background as far as Mckenzie's testing. She has had to brain MR i's which for normal. She has had 3 spinal MR i's which for normal with the exception of one showing a bundle of nerves and the lower spine. She has had a spinal tap which they said was normal but showed a slightly high white count. She has had 3 vep ergs Which were all abnormal, Showing delayed responses.
All the doctors that we have seen in the last 2 years thought she either had a virus that attacked her nervous system, or That this was psychological calling it a conversion disorder.
So ophthalmologist that we saw 2 weeks ago, knew within a few minutes of looking at her eyes that she had dominant optic atrophy, possibly plus since she has symptoms in her legs as well.
Please let me know if you would like me to send any test results.
doctor
Answered by Dr. Suresh Heijebu (13 hours later)
Brief Answer:
Please share the relevant test reports

Detailed Answer:
Hello Sir

I have worked through your detailed description as given

I request you to share all the relevant test reports like MRI brain and spine, CSF analysis, ERG/VEP reports and all other relevant tests for a detailed analysis.

Additionally this does not look like a Conversion disorder in my point of view

Thank you


Above answer was peer-reviewed by : Dr. Kampana
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Answered by
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Dr. Suresh Heijebu

General & Family Physician

Practicing since :2010

Answered : 3664 Questions

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Can early treatment of dominant optic atrophy stop the symptoms from developing?

Brief Answer: Possible muscular dystrophy. Require diagnostic confirmation Detailed Answer: Hello Ma'am, I can certainly understand your concern for your daughter, I have worked through your attached query in detail... Many of your daughter's symptoms (including the dominant optic atrophy) are pointing towards muscular dystrophy, a genetic muscle disorder. Usually, such disorders are diagnosed by muscle biopsy and muscle enzyme study. Generally, such diseases run a chronic progressive course and result in multiple disabilities. Medications like oral steroids may delay the progression of such diseases to some extent. Please check with your physician if he shares my view and if he can prescribe these medications to your daughter. Post your further queries if any. Thank you