Congenital myasthenic syndrome (CMS): limb girdle
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): limb girdle. This is caused by mutations in the GFPT1 and DPAGT1 genes. Fully referenced neurology checklist.
Pathology
- This is caused by mutations in the GFPT1 and DPAGT1 genes
- This causes glycosylation defects and structural NMJ abnormalities
- It does not cause problems with transmission
Clinical features
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Investigations
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Treatment
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Ineffective treatments
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Acronym
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References
- Slater CR, Fawcett PRW, Walls TJ, et al. Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain 2006; 129:2061-2076.
- Ohno K. Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes. JNNP 2013; 84:1064.
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): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
