Can early treatment of dominant optic atrophy stop the symptoms from developing?
Possible muscular dystrophy. Require diagnostic confirmation
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.
Further imaging tests are required
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
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.
Please share the relevant test reports
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
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