Reduced Specific Force in Patients with Mild and Severe Facioscapulohumeral Muscular Dystrophy

Overview

Journal Muscle Nerve

Date 2020 Sep 22

PMID 32959362

Citations 5

Authors

Saskia Lassche

Nicol C Voermans

Tim Schreuder

Arend Heerschap

Benno Kusters

Coen Ac Ottenheijm

Maria Te Hopman

Baziel Gm van Engelen

Affiliations

Soon will be listed here.

Abstract

Background: Specific force, that is the amount of force generated per unit of muscle tissue, is reduced in patients with facioscapulohumeral muscular dystrophy (FSHD). The causes of reduced specific force and its relation with FSHD disease severity are unknown.

Methods: Quantitative muscle magnetic resonance imaging (MRI), measurement of voluntary maximum force generation and quadriceps force-frequency relationship, and vastus lateralis muscle biopsies were performed in 12 genetically confirmed patients with FSHD and 12 controls.

Results: Specific force was reduced by ~33% in all FSHD patients independent of disease severity. Quadriceps force-frequency relationship shifted to the right in severe FSHD compared to controls. Fiber type distribution in vastus lateralis muscle biopsies did not differ between groups.

Conclusions: Reduced quadriceps specific force is present in all FSHD patients regardless of disease severity or fatty infiltration. Early myopathic changes, including fibrosis, and non-muscle factors, such as physical fatigue and musculoskeletal pain, may contribute to reduced specific force.

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References

Enright P . The six-minute walk test. Respir Care. 2003; 48(8):783-5. View

Vercoulen J, Bazelmans E, Swanink C, Fennis J, Galama J, Jongen P . Physical activity in chronic fatigue syndrome: assessment and its role in fatigue. J Psychiatr Res. 1998; 31(6):661-73. DOI: 10.1016/s0022-3956(97)00039-3. View

Lassche S, Janssen B, IJzermans T, Futterer J, Voermans N, Heerschap A . MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders. J Neuromuscul Dis. 2018; 5(3):315-319. PMC: 6087442. DOI: 10.3233/JND-180318. View

Janssen B, Voet N, Nabuurs C, Kan H, Rooy J, Geurts A . Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration. PLoS One. 2014; 9(1):e85416. PMC: 3891814. DOI: 10.1371/journal.pone.0085416. View

Geng L, Yao Z, Snider L, Fong A, Cech J, Young J . DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell. 2012; 22(1):38-51. PMC: 3264808. DOI: 10.1016/j.devcel.2011.11.013. View

Marcon M, Ciritsis B, Laux C, Nanz D, Nguyen-Kim T, Fischer M . Cross-sectional area measurements versus volumetric assessment of the quadriceps femoris muscle in patients with anterior cruciate ligament reconstructions. Eur Radiol. 2014; 25(2):290-8. DOI: 10.1007/s00330-014-3424-2. View

Kan H, Scheenen T, Wohlgemuth M, Klomp D, van Loosbroek-Wagenmans I, Padberg G . Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2009; 19(5):357-62. DOI: 10.1016/j.nmd.2009.02.009. View

Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B . Muscle MRI findings in facioscapulohumeral muscular dystrophy. Eur Radiol. 2015; 26(3):693-705. DOI: 10.1007/s00330-015-3890-1. View

Van der Kloot W, Oostendorp R, van der Meij J, van den Heuvel J . [The Dutch version of the McGill pain questionnaire: a reliable pain questionnaire]. Ned Tijdschr Geneeskd. 1995; 139(13):669-73. View

10.

Dahlqvist J, Andersen G, Khawajazada T, Vissing C, Thomsen C, Vissing J . Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy. J Neurol. 2019; 266(5):1127-1135. DOI: 10.1007/s00415-019-09242-y. View

11.

Berard C, Payan C, Hodgkinson I, Fermanian J . A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005; 15(7):463-70. DOI: 10.1016/j.nmd.2005.03.004. View

12.

Marra M, Heskamp L, Mul K, Lassche S, van Engelen B, Heerschap A . Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis. Neuromuscul Disord. 2018; 28(3):238-245. DOI: 10.1016/j.nmd.2017.11.017. View

13.

Statland J, Shah B, Henderson D, van der Maarel S, Tapscott S, Tawil R . Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Muscle Nerve. 2015; 52(4):521-6. PMC: 4546927. DOI: 10.1002/mus.24621. View

14.

Kalkman J, Schillings M, van der Werf S, Padberg G, Zwarts M, van Engelen B . Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry. 2005; 76(10):1406-9. PMC: 1739364. DOI: 10.1136/jnnp.2004.050005. View

15.

Deenen J, Arnts H, van der Maarel S, Padberg G, Verschuuren J, Bakker E . Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014; 83(12):1056-9. PMC: 4166358. DOI: 10.1212/WNL.0000000000000797. View

16.

Lokken N, Hedermann G, Thomsen C, Vissing J . Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. Ann Neurol. 2016; 80(3):466-71. DOI: 10.1002/ana.24743. View

17.

Wallace L, Garwick S, Mei W, Belayew A, Coppee F, Ladner K . DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011; 69(3):540-52. PMC: 4098764. DOI: 10.1002/ana.22275. View

18.

Leung D, Carrino J, Wagner K, Jacobs M . Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015; 52(4):512-20. PMC: 4504833. DOI: 10.1002/mus.24569. View

19.

Lieber R, Ward S . Cellular mechanisms of tissue fibrosis. 4. Structural and functional consequences of skeletal muscle fibrosis. Am J Physiol Cell Physiol. 2013; 305(3):C241-52. PMC: 3742845. DOI: 10.1152/ajpcell.00173.2013. View

20.

Gerrits H, de Haan A, Hopman M, van der Woude L, Jones D, Sargeant A . Contractile properties of the quadriceps muscle in individuals with spinal cord injury. Muscle Nerve. 1999; 22(9):1249-56. DOI: 10.1002/(sici)1097-4598(199909)22:9<1249::aid-mus13>3.0.co;2-n. View