12. Congenital myasthenic syndrome Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 6 / Drugs : 4 - (DrugBank : 3) / Drug target genes : 5 - Drug target pathways : 15
| Other names | End-plate acetylcholine receptor deficiency;Slow-channel congenital myasthenic syndrome;Fast-channel congenital myasthenic syndrome;Sodium channel myasthenia;End-plate acetylcholine esterase deficiency;Congenital myasthenic syndrome with episodic apnoea;Dok-7 myasthenia;DOK7 congenital myasthenic syndrome; | ||
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| Disease group | Neuromuscular diseases | ||
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Domestic patients
Med expenses recipients (FY2023) |
14 patients Age distribution
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| Related info (in Japanese) | - | ||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | - | ||
| Subtypes | - | ||