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last update : 07-10-2014
Symbol PMSN
Location 1q32.1
Name presynaptic congenital myasthenic syndrome with or without motor neuropathy
Other name(s)
  • Lambert-Eaton Myasthenic Syndrome
  • congenital myasthenic syndrome 7
  • Corresponding gene SYT2
    Other symbol(s) CMS7
    Main clinical features
  • in early childhood with foot deformities, including pes cavus and hammertoes, with variable proximal and distal limb weakness, muscle fatigue that improved with rest, mild gait difficulties, and reduced deep tendon reflexes
  • EMG showed a slight reinnervation of distal muscles, consistent with a motor neuropathy; sensory nerve conduction were normal
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease