title: Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy.
abstract: OBJECTIVE
  In recently published reports, electrophysiological findings were analysed, in some facioscapulo-humeral muscular dystrophy (FSHD) cases without genetic disease confirmation. In several reports, some electrophysiological findings were described, not specific for myopathy. The aim of study was to analyse electrophysiological findings in a genetically homogeneous FSHD group to find possible relationships between electromyography (EMG) abnormalities and clinical symptoms.
  
  
  METHODS
  37 patients with genetically proven FSHD (23 men and 14 women) aged 7-58 years (mean 28.8 years) were studied. Electromyographic examinations were done according to a uniform scheme for FSHD. Quantitative EMG examination was performed in vastus lateralis, tibialis anterior, deltoid and biceps brachii muscles.
  
  
  RESULTS
  There was no correlation between clinical features and electrophysiological findings. EMG confirmed myopathic changes in all patients with most advanced changes in tibialis anterior and deltoid muscles. Some of these changes were unspecific for myopathy and the degree of their intensity differed in particular muscles. The most advanced changes were observed in the tibialis anterior and deltoid muscles. The usefulness of the size index for myopathic processes assessment was confirmed. Analysis of so-called outliers for motor unit activity potential parameters did not show any new data for evaluation of the myopathic process. Myopathic changes in our material were not as advanced as those described in classical dystrophies. Histopathological examinations of skeletal muscle were normal in about 1/3 of patients.
  
  
  CONCLUSIONS
  We established that myopathic changes are clearly present in FSHD, with different degrees of intensity, most pronounced in tibialis anterior and deltoid muscles. There was no correlation between electrophysiological findings and clinical features. The size index provided the highest motor unit potential diagnostic sensitivity in FSHD.
authors.affiliation: Małgorzata Gaweł, Klinika Neurologii, Warszawa, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Dorobek
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Szmidt-Sałkowska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Rowińska-Marcińska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Gaweł
authors.forename: Irena
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004576:Electromyography / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis* / Q000209:etiology; D018482:Muscle, Skeletal / Q000503:physiopathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000503:physiopathology*; D012307:Risk Factors; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D055815:Young Adult