title: A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
abstract: To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patient was evaluated by at least five neurologists, and an FSHD severity score was given by each examiner. The degree of agreement among clinicians' evaluations was measured by kappa-statistics. Nineteen subjects received a score between 0 and 1, 9 had a score between 2 and 4, 20 received a score between 5 and 10, and 8 had a score between 11 and 15. Of the 13 subjects with D4Z4 alleles within the normal range (ranging from 10 to 150 repeats), 12 obtained a score of 0 and only 1 had a score of 1. Kappa-statistics showed a very high concordance for all muscle groups. We developed a simple, reliable, easily used tool to define the clinical expression of FSHD. Longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use.
authors.affiliation: Department of Neurology, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
authors.forename: Greta
authors.initials: G
authors.lastname: Fabbri
authors.forename: Liliana
authors.initials: L
authors.lastname: Vercelli
authors.forename: Roberto
authors.initials: R
authors.lastname: D'Amico
authors.forename: Roberto
authors.initials: R
authors.lastname: Frusciante
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bonifazi
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorillo
authors.forename: Carlo
authors.initials: C
authors.lastname: Borsato
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Cao
authors.forename: Maura
authors.initials: M
authors.lastname: Servida
authors.forename: Francesca
authors.initials: F
authors.lastname: Greco
authors.forename: Rita
authors.initials: R
authors.lastname: Di Leo
authors.forename: Leda
authors.initials: L
authors.lastname: Volpi
authors.forename: Claudia
authors.initials: C
authors.lastname: Manzoli
authors.forename: Paola
authors.initials: P
authors.lastname: Cudia
authors.forename: Ebe
authors.initials: E
authors.lastname: Pastorello
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Ricciardi
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Giuliana
authors.initials: G
authors.lastname: Galluzzi
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rodolico
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.forename: Giuliano
authors.initials: G
authors.lastname: Tomelleri
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
authors.forename: Laura
authors.initials: L
authors.lastname: Palmucci
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Rossella
authors.initials: R
authors.lastname: Tupler
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000503:physiopathology; D015203:Reproducibility of Results; D012720:Severity of Illness Index