Congenital myasthenic syndrome (CMS): RAPSN
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): rapsn: Genetics and pathology This results from Rapsyn deficiency The causative mutations are on chromosome 11p It is a post synaptic disorder It causes acetylcholine receptor deficiency Onset Clinical features Treatment
Genetics and pathology
- This results from Rapsyn deficiency
- The causative mutations are on chromosome 11p
- It is a post synaptic disorder
- It causes acetylcholine receptor deficiency
Onset
Clinical features
Treatment
References
- 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.
- Muller JS, Abicht A, Burke G, et al. The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. J Med Genet 2004; 41:e104.
- 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.
- 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): 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
