Congenital myasthenic syndrome (CMS): glycosylation defects

Evidence-based neurology checklist on congenital myasthenic syndrome (cms): glycosylation defects: 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…

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

DPAGT1

GFPTI

GMPPB

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 3 more. Subscribe to see the full list

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