does anyone have experience of cerebellar atrophy? What is the cause/underlying Diagnosis?
My son is 4.5. The last 3 years his been having tests, for ataxia, nystagmus amongst other things. His very wobbly and falls.
We have just found out his brain scan shows cerebellar atrophy and my heart is broken.
The plan is now to do some mitochondrial DNA gene panel tests, and a muscle biopsy. He is already enrolled on the 100k genome study. His had chromosomes and ataxia panel which were normal. They will repeat his MRI next year to see if sent further changes and if it's static or progressive.