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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2016
Symbol CMS20
Location 2q12.3
Name congenital myasthenic syndrome, 20
Corresponding gene SLC5A7
Main clinical features
  • presynaptic form, neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth, with muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness
  • EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease