Congenital myasthenic syndrome (CMS): pathway classification
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): pathway classification: Presynaptic defects CHAT choline acetyl transferase mutations (CMS 6) Synaptotagmin 2: synaptic vesicle-associated calcium sensor (CMS 7) SNAP25B: synaptic vesicle exocytosis (CMS 18) VAChT:…
Presynaptic defects
- CHAT choline acetyl transferase mutations (CMS 6)
- Synaptotagmin 2: synaptic vesicle-associated calcium sensor (CMS 7)
- SNAP25B: synaptic vesicle exocytosis (CMS 18)
- VAChT: vesicular acetylcholine transporter SLC5A7 (CMS 20)
- VAChT: vesicular acetylcholine transporter SLC18A3 (CMS 21)
Synaptic defects
Endplate development and maintenance defects
Postsynaptic (acetylcholine receptor) defects
Glycosylation pathway defects
Myasthenia associated with centronuclear myopathies
Other myasthenic syndromes
References
- Beeson D, Hantai D, Lochmuller H, Engel AG. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord 2005; 15:498-512.
- Spillane J, Beeson DJ, Kullmann DM. Myasthenia and related disorders of the neuromuscular junction. JNNP 2010; 81:850-857.
- Finlayson S, Beeson D, Palace J. Congenital myasthenic syndrome: an update. Pract Neurol 2013; 13:80-91.
- Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol 2015; 14:461.
- McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol 2018; 265:194-203.
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Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
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- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
