Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies |
| |
| Authors: | Jeffrey M. Statland MD Bharati Shah BS Don Henderson BS Silvere Van Der Maarel PhD Stephen J. Tapscott MD PhD Rabi Tawil MD |
| |
| Affiliation: | 1. Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA;2. Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA;3. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands;4. Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA |
| |
| 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. Muscle Nerve 52: 521–526, 2015 |
| |
| Keywords: | clinical trials DUX4 facioscapulohumeral muscular dystrophy muscle pathology pathology grade |
|
|
