Hi I’m claire from England. My son is 4.5 and just been diagnosed with cerebellar atrophy. He had a brain scan age 2 normal and one in March this year and told normal, on a second opinion they say shows atrophy!!
He was fine when born and met all his milestones until 1, he had some viral illnesses and his development plateaud. He wasn’t walking at 1.5 so we took him to doctors. They run lots of tests all normal. He eventually took his first steps just before 3. He now walks with a walker and in his isnbut very wobbly, off balance and falls.
His symptoms are: hypotonia, hypermobility, Ataxia wide base gait clumsy falls, brisk reflexes, mild speech delay & global development delay. He had two small holes in his heart which have now closed
He developed strabismus (eyes turn in) and most recently after a balance test nystagmus of a central vestibular cause.
We still do not know the underlying cause for all if this nor his prognosis. Although he is making slow progress.
It’s been 3 years of testing. His lumbar puncture, chromosomes & Ataxia Gene panel all normal. He is now enrolled in the 100k genome clinical trial and may also be tested for mitochondrial disorders.
He does not have any abnormal ‘features’. He occasionally gets a very subtle tremor. He failed Romberg and finger to nose tests
There are just no answers as yet. Which is worrying and frustrating.
I hope you get some answers too. Xx