Congenital myasthenic syndrome (CMS): RAPSN
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): RAPSN. This results from Rapsyn deficiency. Fully referenced neurology checklist.
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
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Clinical features
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Treatment
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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.
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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): COLQ
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