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

• Published in: Muscle & nerve Vol. 42; no. 2; pp. 213 - 217
• Main Authors: Lamperti, Costanza, Fabbri, Greta, Vercelli, Liliana, D'Amico, Roberto, Frusciante, Roberto, Bonifazi, Emanuela, Fiorillo, Chiara, Borsato, Carlo, Cao, Michelangelo, Servida, Maura, Greco, Francesca, Di Leo, Rita, Volpi, Leda, Manzoli, Claudia, Cudia, Paola, Pastorello, Ebe, Ricciardi, Leopoldo, Siciliano, Gabriele, Galluzzi, Giuliana, Rodolico, Carmelo, Santoro, Lucio, Tomelleri, Giuliano, Angelini, Corrado, Ricci, Enzo, Palmucci, Laura, Moggio, Maurizio, Tupler, Rossella
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.08.2010; Wiley; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; clinical evaluation form; clinical severity score; Diseases of striated muscles. Neuromuscular diseases; facioscapulohumeral muscular dystrophy; Female; Humans; Kappa-statistic; Male; Medical sciences; Middle Aged; Muscle Weakness - diagnosis; Muscle Weakness - genetics; Muscle Weakness - physiopathology; muscle weakness distribution; Muscular dystrophy; Muscular Dystrophy, Facioscapulohumeral - diagnosis; Muscular Dystrophy, Facioscapulohumeral - physiopathology; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Reproducibility of Results; Severity of Illness Index; Human; Nervous system diseases; Neuromuscular diseases; muscle weakness distribution; Muscular dystrophy; Genetic disease; Kappa-statistic; Sensitivity; clinical severity score; Reproducibility; facioscapulohumeral muscular dystrophy; Weakness; Muscle; clinical evaluation form
• ISSN: 0148-639X; 1097-4598; 1097-4598
• DOI: 10.1002/mus.21671

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. Muscle Nerve, 2010