A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Program in Gene Function and Expression, University of Massachusetts Medical School, Worcester, Massachusetts, USAAccepted 5 January 2010ABSTRACT: To define numerically the clinical severity offacioscapulohumeral muscular dystrophy (FSHD), we developeda protocol that quantifies muscle weakness by combining thefunctional evaluation of six muscle groups affected in this dis-ease. To validate reproducibility of the protocol, 69 patientswere recruited. Each patient was evaluated by at least five neu-rologists, and an FSHD severity score was given by each exam-iner. The degree of agreement among clinicians’ evaluationswas measured by kappa-statistics. Nineteen subjects receiveda score between 0 and 1, 9 had a score between 2 and 4, 20received a score between 5 and 10, and 8 had a score between11 and 15. Of the 13 subjects with D4Z4 alleles within the nor-mal range (ranging from 10 to 150 repeats), 12 obtained ascore of 0 and only 1 had a score of 1. Kappa-statistics showeda very high concordance for all muscle groups. We developed asimple, reliable, easily used tool to define the clinical expressionof FSHD. Longitudinal studies will assess its sensitivity and util-ity in measuring changes for widespread use.