Congenital myasthenic syndrome (CMS): glycosylation defects

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Congenital myasthenic syndrome (CMS): glycosylation defects. The onset is in the first two years. Fully referenced neurology checklist.

ALG2

  • The onset is in the first two years
  • There are delayed motor milestones
  • There is predominantly proximal weakness
  • There is a waddling gait with falls
  • It also presents with hypotonia and lumbar hyperlordosis
  • The progression is slow
  • Muscle biopsy shows tubular aggregates

ALG14

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DPAGT1

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GFPTI

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GMPPB

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References

  1. Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015; 138:2493-2504.
  2. Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013; 136:944-956. 
  3. Schorling DC, Rost S, Lefeber DJ, et al. Early and lethal neurodegeneration with myasthenic and myopathic features: a new ALG14-CDG. Neurology 2017; 89:657-664. 
  4. Finlayson S, Palace J, Belaya K, et al. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. JNNP 2013; 84:1119-1125. 
  5. Belaya K, Finlayson S, Slater CR, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012; 91:193-201. 
  6. And 4 more. Subscribe to see the full list

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