Catalog

Congenital myasthenia with postsynaptic defect

No MMS code

Link to WHO Definition

Congenital myasthenia with postsynaptic defect – http://id.who.int/icd/entity/686257112

Congenital myasthenia with postsynaptic defect account for 60% of cases and include: Acetylcholine receptor (AChR) kinetic anomalies (slow channel, fast channel), AChR deficiency, Escobar syndrome, Rapsyn deficiency, Sodium channel myasthenia, anomalies of Muscle-specific kinase (MuSK), DOK-7 related limb–girdle myasthenia, Low density lipoprotein receptor-related protein 4 (LRP4)-related CMS, centronuclear myopathy and impaired neuromuscular transmission, and plectin deficiency.