pilocarpine and hypotonia

Pilocarpine is a drug that was frequently identified by our Mark2Cure citizen scientists and volunteers in the previous sets of biomedical literature. It was often found in the context of seizures or tears—both of which are symptoms associated with NGLY1 deficiency. In humans, pilocarpine is used to pre-operatively treat some forms of glaucoma, and to treat the dry eyes associated with Sjögren's syndrome. Pilocarpine is also used to stimulate secretion of saliva and sweat and a “paucity of sweating” was noted in one case of an NGLY1-deficient patient. Are there underlying mechanisms in the pilocarpine literature that might help elucidate the symptoms of NGLY1-deficiency? Help us find out.

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