Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient

Abstract

The existence of hereditary congenital myasthenic syndromes CMS) has been recognized for decades and mutations in downtream of tyrosine kinase 7 (DOK7), causes approximately 10% of ll CMS [1]. DOK7 CMS induces progressive limb girdle weakness from the rst years of life. Creatine kinase (CK) is normal, but muscle biopsy an appear myopathic [1]. 2-agonists and 3,4-diaminopyridine (3,4-DAP) is used to treat OK7 CMS [2], but results have mainly been reported in chilren and adolescents [3]. In this report we add information about resentation, treatment effect and electrophysiological treatment esponse in an older person with DOK7.