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A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
Author(s) -
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
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21671
Subject(s) - facioscapulohumeral muscular dystrophy , concordance , medicine , muscular dystrophy , kappa , physical therapy , physical medicine and rehabilitation , muscle weakness , severity of illness , philosophy , linguistics
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