3 doctors weighed in:

My 4 year old granddaughter has been diagnosed with apraxia ocular motor ataxia . What is this and what is her future?

3 doctors weighed in
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral

In brief: AOA 1 & 2

The 2 types of ataxia with oculomotor apraxia are autosomal recessive disorders (each parent carries the gene mutation), but they involve different genes.
>18 mutations of the aprataxin gene on chr. 9 can cause aoa 1. A geneticist may have determined the mutation in your grandchild. Her parents can call 352-273-9194, the national ataxia registry, for information & support. See the genedx website.

In brief: AOA 1 & 2

The 2 types of ataxia with oculomotor apraxia are autosomal recessive disorders (each parent carries the gene mutation), but they involve different genes.
>18 mutations of the aprataxin gene on chr. 9 can cause aoa 1. A geneticist may have determined the mutation in your grandchild. Her parents can call 352-273-9194, the national ataxia registry, for information & support. See the genedx website.
Dr. Johanna Fricke
Dr. Johanna Fricke
Thank
2 comments
Dr. William Goldie
I respectfully disagree. Genetic labels should be avoided. Genetic risk can be made aware, but the child should be treated as normal.
Dr. Johanna Fricke
From your mouth to God's ears. That would be great. Unfortunately, AOA causes progressive peripheral neuropathy.
Dr. William Goldie
Pediatrics - Neurology

In brief: Jibberish

The terms that you cite are not well defined.
What seems to be being described is her difficulty with smooth use of her eyes. Common and appropriate for her age. Eye and hand and reading is just developing at her age. The smooth scanning of her eyes and the ability to visually attend and focus will take time and experience. Do not worry about the words, just let her grow and develop.

In brief: Jibberish

The terms that you cite are not well defined.
What seems to be being described is her difficulty with smooth use of her eyes. Common and appropriate for her age. Eye and hand and reading is just developing at her age. The smooth scanning of her eyes and the ability to visually attend and focus will take time and experience. Do not worry about the words, just let her grow and develop.
Dr. William Goldie
Dr. William Goldie
Thank
Dr. Idan Sharon
Neurology

In brief: Apraxia and ataxia

Causes could be multiple.
There must have been other iussues with her including hypotonia?

In brief: Apraxia and ataxia

Causes could be multiple.
There must have been other iussues with her including hypotonia?
Dr. Idan Sharon
Dr. Idan Sharon
Thank
1 comment
Dr. William Goldie
Many children are neurologically disorganized at this age. Thorough evaluation is warranted, but good organization over time can occur.
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