Patients show neurological regression, truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Brain MRI shows diffuse abnormal white matter signal and severe atrophy.
ACER3ACER3Patients show neurological regression, truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Brain MRI shows diffuse abnormal white matter signal and severe atrophy.