Congenital myasthenic syndrome (CMS): slow channel
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): slow channel: Pathology This is caused by mutations in the Acetylcholine receptor (AChR) gene The transmission is autosomal dominant Can present in adolescence/later life It is a post synaptic CMS Clinical features…
Pathology
- This is caused by mutations in the Acetylcholine receptor (AChR) gene
- The transmission is autosomal dominant
- Can present in adolescence/later life
- It is a post synaptic CMS
Clinical features
Treatment
Ineffective treatments
References
- Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 p454.
- 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.
- Harper CM, Fukodome T, Engel AG. Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology 2003; 60:1710-1713.
- Peyer AK, Abicht A, Heinimann K, Sinnreich M, Fischer D. Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. Neuromuscul Disord 2013; 23:571-574.
- And 1 more. Subscribe to see the full list
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): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
