Diagnosis
Congenital myasthenic syndrome (CMS) is "often difficult to diagnose because of a broad differential diagnosis and lack of specific laboratory findings. Identification of the underlying mutation is critical, as certain mutations lead to treatment-responsive conditions while others do not." Whole exome sequencing (WES) is often used as a diagnostic tool that allows for the "initiation of specific treatment". Management
Treatment depends on the form (category) of the disease. Although symptoms are similar to myasthenia gravis, treatments used in MG are not useful in CMS. MG is treated with immunosuppressants, but CMS is not an autoimmune disorder. Instead, CMS is genetic and responds to other forms of drug treatments. A form of presynaptic CMS is caused by an insufficient release of acetylcholine (ACh) and is treated with cholinesterase inhibitors.Postsynaptic fast-channel CMS, in which ACh receptors do not stay open long enough, is treated with cholinesterase inhibitors and 3,4-diaminopyridine. In the U.S., the more stable phosphate salt formulation of 3,4-diaminopyridine (amifampyridine phosphate) is under development as an orphan drug for CMS and is available to eligible patients at no cost under an expanded access program. Postsynaptic slow-channel CMS is treated with quinidine or fluoxetine, which blocks the ACh receptor.Ephedrine, a β(2)-adrenergic receptor agonist with alpha activity,  has been tested on patients in clinical trials and appears to be an effective treatment for DOK7 CMS. Most patients tolerate this type of treatment and improvements in strength can be substantial.
For affected girls who wish (or whose parents wish) to have their hymens preserved, surgical techniques to excise of a central flange of the hymen can be used. The timing of surgical hymen repair is controversial: some doctors believe it is best to intervene immediately after the neonatal period, while others believe that surgical repair should be delayed until puberty, when estrogenization is complete. Epidemiology
Imperforate hymen is the most common vaginal obstruction of congenital origin. Estimates of the frequency of imperforate hymen vary from 1 in 1000 to 1 in 10,000 females. References

Glavan, N; Haller, H; Brnčić-Fischer, A; Glavan-Gačanin, L; Miletić, D; Jonjić, N (2016). "Imperforate hymen presenting as vaginal cyst in a 16-month-old child - considerations for an early diagnosis". Scottish Medical Journal. 61 (1): 48–50. doi:10.1177/0036933015615263. PMID 26659454. S2CID 27077599. Imperforate hymen at Medscape


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