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

TLDR

The authors created a numerical FSHD severity score combining functional assessment of six affected muscle groups and plan to evaluate its sensitivity in longitudinal studies. They validated the protocol by recruiting 69 patients, having each examined by at least five neurologists, and quantified inter‑examiner agreement with kappa statistics. The score ranged from 0–15, with most patients scoring 5–10, showed very high inter‑examiner concordance, and correlated with D4Z4 repeat length, demonstrating the tool’s reliability and ease of use.

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.