Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Issue 4 (18th June 2015)

• Record Type: Journal Article
• Authors: Statland, Jeffrey M.; Shah, Bharati; Henderson, Don; Van Der Maarel, Silvere; Tapscott, Stephen J.; Tawil, Rabi
• Is Part Of: Muscle & nerve. Volume 52:Issue 4(2015:Oct.)
• Page Start: 521
• Page End: 526
• Publication Date: 2015-06-18
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.24621
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p> <italic>Introduction:</italic> 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. <italic>Methods:</italic> 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. <italic>Results:</italic> Pathology grade had moderate correlations with genetic mutation (rho = –0.45, <italic>P</italic> &lt; 0.001), clinical severity score (rho = 0.53, <italic>P</italic> &lt; 0.001), disease duration (rho = 0.31, <italic>P</italic> = 0.03), and quantitative myometry (rho = –0.47, <italic>P</italic> &lt; 0.001). We found no difference in the frequency of inflammation between FSHD types 1 and 2. <italic>Conclusions:</italic> 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. <italic>Muscle Nerve</italic> 52: 521–526, 2015</p> </abstract>