CIZ1 Related Cervical Dystonia – Responded well to Deep Brain Stimulation Treatment

About this Case

A young IT professional has developed abnormal twisting movement of her neck for the past 2-3 years. It was gradually worsened and she couldn’t lift her neck properly. She used to lie down in the bed or keep her neck tightly in a chair to steady the head during her work from home period or zoom calls. Because of her disability, she has tried few medications and Botox injections for the past 2 years without much benefit. She heard about Apollo Deep Brain Stimulation team and consulted the movement disorder specialist. She was diagnosed to have cervical dystonia. Her serum copper, ceruloplasmin, peripheral smear for acanthocytes and KF-ring were normal. Her MRI Brain was unremarkable. Her genetic analysis showed CIZ1 gene mutation