Congenital myasthenic syndromes (CMS) presenting in adulthood
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndromes (CMS) presenting in adulthood. DOK7, RAPSN, LRP4, COLQ, Slow-channel syndrome. Fully referenced neurology checklist.
Frequent adult forms
- DOK7
- RAPSN
- LRP4
- COLQ
- Slow-channel syndrome
Rare adult forms
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Demographic features
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Clinical features
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Differential diagnosis
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Treatment
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References
- Kao JC, Milone M, Selcen D, Shen XM, Engel AG, Liewluck T. Congenital myasthenic syndromes in adult neurology clinic: a long road to diagnosis and therapy. Neurology 2018; 91:e1770-e1777.
- Santos M, Cruz S, Peres J, et al. DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine. Neuromuscul Disord 2018; 28:278-282.
- Beeson D. Congenital myasthenic syndromes. ACNR 2005; 4:12-13.
- Garg N, Yiannikas C, Hardy TA, et al. Late presentations of congenital myasthenic syndromes: how many do we miss? Muscle Nerve 2016; 54:721-727.
- Eymard B, Stojkovic T, Sternberg D, et al; Membres du réseau national Syndromes Myasthéniques Congénitaux. Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy-The French National Congenital Myasthenic Syndrome Network experience. Rev Neurol (Paris) 2013; (169 Suppl 1):S45-S55.
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Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- Congenital myasthenic syndrome (CMS): pathway 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)
