Electromyography in myoadenylate deaminase deficiency (MADD)

Introduction: Myoadenylate deaminase deficiency (MADD) is the most frequent enzyme defect in muscle. However, the frequency of electromyographic changes are not well described. Therefore, the aim of this study was to systematically investigate electromyographic abnormalities in MADD. Methods: (Altogether) 1673 muscle biopsy samples (1977–1999) were examined for MADD (loss of the AMPD activity). 34 patients (=1,8%, 19 male, 15 female) were diagnosed as MADD and classified as primary symptomatic MADD (n=4), primary asymptomatic MADD (n=8) or coincidental MADD (n=22). Electromyographic of all 34 (20) patients recor…