CONGENITAL MYASTHENIC SYNDROMES: AN OVERVIEW OF THE CLINICAL PRESENTATION, DIAGNOSIS AND TREATMENT

Συγγραφείς

  • Dimitra Veltsista
  • Zinovia Kefalopoulou
  • Kyriaki Kekou
  • Maria Svingou
  • Elisabeth Chroni

Λέξεις-κλειδιά:

neuromuscular junction, muscle weakness, acetylcholine;, hereditary disease

Περίληψη

Congenital myasthenic syndromes (CMS) are a diverse group of rare inherited diseases caused by mutations
in various genes that encode proteins related to the function or structure of the neuromuscular
junction. This is a brief review of current knowledge concerning the pathophysiology, responsive genetic
defect, clinical and neurophysiological features, as well as symptomatic treatment strategies of CMS.

Λήψεις

Δημοσιευμένα

01-02-2022

Τεύχος

Ενότητα

Άρθρα ανασκόπησης