Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Oct;52(4):521-6.
doi: 10.1002/mus.24621. Epub 2015 Jun 18.

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

Jeffrey M Statland  1   2 , Bharati Shah  2 , Don Henderson  2 , Silvere Van Der Maarel  3 , Stephen J Tapscott  4 , Rabi Tawil  2
Affiliations

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

Jeffrey M Statland et al. Muscle Nerve. 2015 Oct.

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.

Keywords: DUX4; clinical trials; facioscapulohumeral muscular dystrophy; muscle pathology; pathology grade.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Inflammation in an FSHD2 biceps muscle biopsy. CD4 lymphocyte predominant primarily perivascular inflammatory infiltrates can be seen, which are similar to FSHD1. A) Hematoxylin and eosin stain showing perivascular inflammatory infiltrate which is comprised of both B) CD4, and C) CD8 positive cells.
Figure 2
Figure 2
Relationships of histopathology to disease activity. A) The relationship of muscle pathology grade to clinical severity score; B) The pathology grade is lower for participants with genetic mutations >27 kb (7-10 repeats); C) The pathology grade is higher in participants expressing DUX4 targets.
See this image and copyright information in PMC

References

    1. Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009;75(6):550–555. - PubMed
    1. Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve. 1995;2:S81–84. - PubMed
    1. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34(1):1–15. - PubMed
    1. Statland JM, Tawil R. Risk of functional impairment in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2013 - PubMed
    1. Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee JH, Goto K, et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve. 1995;2:S56–66. - PubMed

Publication types