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What is Acetazolamide?
Acetazolamide is a medicine used to treat glaucoma (a group of eye conditions that damage the optic nerve, vital for good vision). It is also used to treat ataxia, one of the major clinical signs of PMM2-CDG. To learn more, the following website lists Acetazolamide’s uses and side effects: Acetazolamide Uses, Side Effects & Warnings - Drugs.com
How can PMM2-CDG patients benefit from this therapy?
In PMM2-CDG, acetazolamide can be used to help control epilepsy and seizures and has been shown to be effective for motor cerebellar syndrome. A clinical trial for the assessment of the efficacy and safety of acetazolamide therapy in PMM2-CDG patients in the USA is being set-up (ClinicalTriasl.gov NCT04679389). To learn more about this therapeutic approach and how Acetazolamide works, watch this video: