Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

Leo H Wang¹, Maya N Hatch², Michael P McDermott³, William B Martens⁴, Katy Eichinger⁵, Leann Lewis⁵, Michaela Walker⁶, Doris G Leung⁷, Kathryn R Wagner⁷, Sabrina Sacconi⁸, Karlien Mul⁹, Perry B Shieh¹⁰, Bakri Elsheikh¹¹, Russell J Butterfield¹², Nicholas E Johnson¹³, Valeria Sansone¹⁴, Jay J Han², Rabi Tawil⁵, Jeffrey M Statland⁶; ReSolve Investigators of FSHD CTRN

Affiliations

¹ Department of Neurology, University of Washington, WA, USA. Electronic address: leowang@uw.edu.
² Department of Physical Medicine & Rehabilitation, University of California Irvine, CA, USA.
³ Department of Biostatistics and Computational Biology, University of Rochester Medical Center, NY, USA; Department of Neurology, University of Rochester Medical Center, NY, USA.
⁴ Department of Biostatistics and Computational Biology, University of Rochester Medical Center, NY, USA.
⁵ Department of Neurology, University of Rochester Medical Center, NY, USA.
⁶ Department of Neurology, University of Kansas Medical Center, KS, USA.
⁷ The Johns Hopkins School of Medicine, Kennedy Krieger Institute, MD, USA.
⁸ Neuromuscular disease Department, Referent Center for Rare Neuromuscular Diseases, Nice University Hospital, Nice, France.
⁹ Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
¹⁰ Department of Neurology, University of California, Los Angeles, CA, USA.
¹¹ Department of Neurology, The Ohio State University Wexner Medical Center, OH, USA.
¹² University of Utah, UT, USA.
¹³ Department of Neurology, Virginia Commonwealth University, VA, USA.
¹⁴ The NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Department of Neurology, Milan, Italy.

PMID: 39978161
PMCID: PMC11911083 (available on 2026-03-01)
DOI: 10.1016/j.nmd.2025.105279

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

Leo H Wang et al. Neuromuscul Disord. 2025 Mar.

. 2025 Mar:48:105279.

doi: 10.1016/j.nmd.2025.105279. Epub 2025 Jan 27.

Authors

Affiliations

¹ Department of Neurology, University of Washington, WA, USA. Electronic address: leowang@uw.edu.
² Department of Physical Medicine & Rehabilitation, University of California Irvine, CA, USA.
³ Department of Biostatistics and Computational Biology, University of Rochester Medical Center, NY, USA; Department of Neurology, University of Rochester Medical Center, NY, USA.
⁴ Department of Biostatistics and Computational Biology, University of Rochester Medical Center, NY, USA.
⁵ Department of Neurology, University of Rochester Medical Center, NY, USA.
⁶ Department of Neurology, University of Kansas Medical Center, KS, USA.
⁷ The Johns Hopkins School of Medicine, Kennedy Krieger Institute, MD, USA.
⁸ Neuromuscular disease Department, Referent Center for Rare Neuromuscular Diseases, Nice University Hospital, Nice, France.
⁹ Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
¹⁰ Department of Neurology, University of California, Los Angeles, CA, USA.
¹¹ Department of Neurology, The Ohio State University Wexner Medical Center, OH, USA.
¹² University of Utah, UT, USA.
¹³ Department of Neurology, Virginia Commonwealth University, VA, USA.
¹⁴ The NEMO Clinical Center, Neurorehabilitation Unit, University of Milan, Department of Neurology, Milan, Italy.

PMID: 39978161
PMCID: PMC11911083 (available on 2026-03-01)
DOI: 10.1016/j.nmd.2025.105279

Abstract

Patients with FSHD can develop scapular winging and loss of ability to raise arm. Reachable workspace (RWS) is able to describe upper extremity (UE) reaching ability. We analyzed data from 175 clinically affected and genetically confirmed adults with FSHD enrolled in the Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD (ReSolve) study. Our objective was to 1) investigate the relationship between UE reaching ability and muscle strength (using quantitative muscle testing, QMT); and (2) describe how different reaching abilities correspond to patient-reported function at home. There were strong correlations between total relative surface area (i.e., upper extremity reachability in the frontal plane) and UE strength measured by QMT. For each successive 25 % decrease in total relative surface area, there was a corresponding mean 18 % decrease in predicted UE strength and a mean 9-point decrease in the Upper Extremity Functional Index. Individuals that could not reach the right upper medial quadrant reported more difficulty performing various upper extremity activities of daily living and had decreases in the physical function as reported by the PROMIS-57 questionnaire. RWS provides a meaningful measurement of upper extremity strength and function in patients with FSHD.

Keywords: Arm strength; Biomarkers; Facioscapulohumeral muscular dystrophy; Patient reported outcome.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: LHW reports consultancy/advisory board for Fulcrum Therapeutics, Avidity, Argenx, and data safety monitoring board for Syneos/Scholar Rock. MNH reports consultancy/advisory board for Fulcrum Therapeutics, Avidity, and Bioniks. MPM reports funding from the National Institutes of Health, US Food and Drug Administration, CureSMA; consultant for Fulcrum Therapeutics, Inc., has served on Data and Safety Monitoring Boards for Eli Lilly and Company, Neurocrine Biosciences Inc., ReveraGen BioPharma, Inc., NS Pharma, Inc., Prilenia, Seelos Therapeutics, Neurocrine Biosciences, Inc. KE has served on advisory boards or has received consulting fees from Biogen, Acceleron, PTC, Ionis Pharmaceuticals, Fulcrum Therapeutics, Dyne Therapeutics, Avidity Biosciences and Roche. RNT reports consultancy with Fulcrum Therapeutics, Arrowhead, Dyne Therapeutics, Acceleron, MT Pharma, miRecule, and Roche Pharma. KRW was an employee of F. Hoffmann-La Roche Ltd. SS reports honoraria from Lupin and Fulcrum Therapeutics, support for travel from UCB, Sanofi, and Fulcrum Therapeutics; participation on Data and Safety Monitoring Boards for UCB, Sanofi, Amicus. KM reports consultancy for Avidity Biosciences. PS has served as consultant for Sarepta, Genentech, Biogen, Alexion, Argenx, UCB, Sanofi, Prizer; served on speakers’ bureaus for CSL Behring, Grifols, Alexion, Biogen, Genentech, Argenx, Catalyst, UCB, Novartis; served on Data and Safety Monitoring Boards for Taysha, Exicison, Encoded. BE received research funding from Biogen, Genentech, Alexion, Pharnext, Avidity, NMD Pharma, and Viela Bio and served as a consultant for Biogen, Genentech, and Argenx. RJB reports consultancy/advisory board for Aavanti Bio, Scholar Rock, Avexis, Pfizer, Reata, and Sarepta Therapeutics. NEJ receives royalties from the CCMDHI and the CMTHI; receives research funds from Dyne, AveXis, Takeda, Sanofi Genzyme, Pepgen, Vertex Pharmaceuticals, Fulcrum Therapeutics, Sarepta, and AskBio; has provided consultation for Takeda, Pepgen, Arthex, AveXis, AMO Pharma, Fulcrum Therapeutics, Dyne, Avidity, and Vertex Pharmaceuticals. VAS reports consulting fees from Avidity biosciences and Dyne Therapeutics. JJH reports consultancy/advisory board for Fulcrum Therapeutics, Avidity Biosciences, Sanofi, and Bioniks. JS has served as consultant for Arrowhead, ML Bio, MT Pharma, Epic Bio, Armatus; served on a Scientific Advisory or Data Safety Monitoring board for Dyne Therapeutics, Avidity, Fulcrum Therapeutics, Roche.

References

1. Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 2014;83:1056–9. 10.1212/WNL.0000000000000797 - DOI - PMC - PubMed
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;75:550–5. 10.1111/j.1399-0004.2009.01158.x - DOI - PubMed
1. Hamel J, Johnson N, Tawil R, Martens WB, Dilek N, McDermott MP, et al. Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD). Neurology 2019;93:e1180–e92. 10.1212/WNL.0000000000008123 - DOI - PMC - PubMed
1. Bergsma A, Cup EH, Geurts AC, de Groot IJ. Upper extremity function and activity in facioscapulohumeral dystrophy and limb-girdle muscular dystrophies: a systematic review. Disabil Rehabil 2015;37:1017–32. 10.3109/09638288.2014.948138 - DOI - PubMed
1. Lue YJ, Lin RF, Chen SS, Lu YM. Measurement of the functional status of patients with different types of muscular dystrophy. Kaohsiung J Med Sci 2009;25:325–33. 10.1016/S1607-551X(09)70523-6 - DOI - PMC - PubMed

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

U01 NS101944/NS/NINDS NIH HHS/United States

LinkOut - more resources

Full Text Sources
- ClinicalKey
- Elsevier Science

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

Affiliations

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

Authors

Affiliations

Abstract

Conflict of interest statement

References

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources