A Case of ERCC6‐Related Cockayne Syndrome Presenting with Levodopa‐Responsive Tremor Syndrome.

This article discusses a case of Cockayne syndrome (CS), a genetic disorder characterized by growth failure, neuropathy, gait problems, and physical features. The patient described in the article is a 26-year-old Balouch female with short stature, hand tremor, and delayed developmental milestones. Genetic testing confirmed a diagnosis of CSB subtype, which is associated with variants in the ERCC6 gene. The patient showed improvement in hand tremor and other symptoms with levodopa treatment and botulinum toxin injections. CS is a progressive disorder with various neurological dysfunctions, and there is currently no definitive treatment. [Extracted from the article]