CNNM2

Management

At this moment, specific therapies for the treatment of HSMR syndrome due to pathogenic mutations in CNNM2 have yet to be developed. At this moment, the main advices are:

  • Mg2+ supplementation
  • Anti-consulvants, in case of persistent refractory epilepsy
  • Speech therapy in case of speech/communication delay
  • Physiotherapy if motor skills defects are identified