Muscle Pathology Grade for Facioscapulohumeral Muscular Dystrophy Biopsies

Overview

Journal Muscle Nerve

Date 2015 Feb 24

PMID 25704033

Citations 32

Authors

Jeffrey M Statland

Bharati Shah

Don Henderson

Silvere van der Maarel

Stephen J Tapscott

Rabi Tawil

Affiliations

Soon will be listed here.

Abstract

Introduction: As we move toward planning for clinical trials in facioscapulohumeral muscular dystrophy (FSHD), a better understanding of the clinical relationship with morphological changes in FSHD muscle biopsies will be important for stratifying patients and understanding post-therapeutic changes in muscle.

Methods: We performed a prospective cross-sectional study of quadriceps muscle biopsies in 74 genetically confirmed FSHD participants (64 with FSHD type 1 and 10 with FSHD type 2). We compared a 12-point muscle pathology grade to genetic mutation, disease severity score, and quantitative myometry.

Results: Pathology grade had moderate correlations with genetic mutation (rho = -0.45, P < 0.001), clinical severity score (rho = 0.53, P < 0.001), disease duration (rho = 0.31, P = 0.03), and quantitative myometry (rho = -0.47, P < 0.001). We found no difference in the frequency of inflammation between FSHD types 1 and 2.

Conclusions: The pathology grade of quadriceps muscle may be a useful marker of disease activity in FSHD, and it may have a role in stratification for future clinical trials.

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