Congenital myasthenic syndrome (CMS): pathway classification
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): pathway classification. CHAT choline acetyl transferase mutations (CMS 6). Fully referenced neurology checklist.
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
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Endplate development and maintenance defects
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Postsynaptic (acetylcholine receptor) defects
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Glycosylation pathway defects
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Myasthenia associated with centronuclear myopathies
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Other myasthenic syndromes
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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
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): DOK7
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): AGRIN
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): GMPPB
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- 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
