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DR info

Clinical trials : 7 / Drugs : 8 - (DrugBank : 3) / Drug target genes : 8 - Drug target pathways : 16

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;

Disease group

Neuromuscular diseases

Domestic patients
Med expenses recipients, FY2024 (corrected) (in Japanese)

18 patients

Age distribution

💬

Clinical research form (in Japanese)
MHLW Intractable Diseases, FY2026 (in Japanese)

Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf)

Specific pediatric chronic diseases, Japan (in Japanese)

Sub-diseases
(Clinical research forms may not be available for all sub-diseases.)