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Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies
Author(s) -
Statland Jeffrey M.,
Shah Bharati,
Henderson Don,
Van Der Maarel Silvere,
Tapscott Stephen J.,
Tawil Rabi
Publication year - 2015
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.24621
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , muscular dystrophy , pathology , clinical trial , disease , neuromuscular disease
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. Muscle Nerve 52: 521–526, 2015