A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
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.
Lamperti
Costanza
C
Department of Neurology, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Fabbri
Greta
G
Vercelli
Liliana
L
D'Amico
Roberto
R
Frusciante
Roberto
R
Bonifazi
Emanuela
E
Fiorillo
Chiara
C
Borsato
Carlo
C
Cao
Michelangelo
M
Servida
Maura
M
Greco
Francesca
F
Di Leo
Rita
R
Volpi
Leda
L
Manzoli
Claudia
C
Cudia
Paola
P
Pastorello
Ebe
E
Ricciardi
Leopoldo
L
Siciliano
Gabriele
G
Galluzzi
Giuliana
G
Rodolico
Carmelo
C
Santoro
Lucio
L
Tomelleri
Giuliano
G
Angelini
Corrado
C
Ricci
Enzo
E
Palmucci
Laura
L
Moggio
Maurizio
M
Tupler
Rossella
R
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