12. Congenital myasthenic syndrome Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 5 / Drugs : 7 - (DrugBank : 3) / Drug target genes : 5 - Drug target pathways : 13
| Other names | - | ||
|---|---|---|---|
| Disease group | Neuromuscular diseases | ||
|
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 | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 12-1. | End-plate acetylcholine receptor deficiency; | ||
| 12-2. | Slow-channel congenital myasthenic syndrome; | ||
| 12-3. | Fast-channel congenital myasthenic syndrome; | ||
| 12-4. | Sodium channel myasthenia; | ||
| 12-5. | End-plate acetylcholine esterase deficiency; | ||
| 12-6. | Congenital myasthenic syndrome with episodic apnoea; | ||
| 12-7. | Dok-7 myasthenia;DOK7 congenital myasthenic syndrome; | ||