GTR Home > Conditions/Phenotypes > Endplate acetylcholinesterase deficiency

Summary

Congenital myasthenic syndromes (CMS) are genetic disorders of the neuromuscular junction that can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. Endplate AChE deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction. For a discussion of genetic heterogeneity of CMS, see 608931. [from OMIM]

Associated genes

  • Also known as: EAD, COLQ
    Summary: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

Clinical features

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  • Weak cry
  • Respiratory insufficiency
  • Respiratory insufficiency due to muscle weakness
  • Easy fatigability
  • Decreased muscle mass
  • Dysarthria
  • Generalized muscle weakness
  • Dysphagia
  • Type 2 muscle fiber atrophy
  • Feeding difficulties in infancy
  • Ophthalmoparesis
  • Ptosis
  • Muscular hypotonia
  • Scoliosis
  • Abnormality of the immune system
  • Hyperlordosis
  • EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation
  • Prolonged miniature endplate currents
  • Decreased size of nerve terminals
  • Fatigable weakness
  • Limb muscle weakness
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