Congenital myasthenic syndromes a rare case of AGRN mutation
Diagnosis of CMS requires clinical suspicion, characteristic electrophysiology, and genetic confirmation. Treatment varies with subtype; AGRN-related CMS responds variably to salbutamol and ephedrine, while cholinesterase inhibitors may be ineffective. Prognosis depends on timely diagnosis and management.
Authors
- Ashaq Hussain Parrey
Institutions
- Government Medical College (IN)
Publication Details
- Journal
- American Journal of Neurodegenerative Disease
- Published
- 2025-01-01
- DOI
- https://doi.org/10.62347/hynf1809
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 0.00