Congenital myasthenic syndrome (CMS): general features
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): general features: Demographic features There is usually a positive family history but this may be absent It has an early onset age but this may be delayed until adulthood Conventional myasthenic antibodies are negative:…
Demographic features
- There is usually a positive family history but this may be absent
- It has an early onset age but this may be delayed until adulthood
- Conventional myasthenic antibodies are negative: AChR, MUSK, P/Q type VGCC
Electromyogram (EMG) features
Differential diagnosis
References
- Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscul Disord 2012; 22:99-111.
- Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol 2015; 14:461.
- Finlayson S, Beeson D, Palace J. Congenital myasthenic syndrome: an update. Pract Neurol 2013; 13:80-91.
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- Congenital myasthenic syndrome (CMS): pathway classification
- 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
