Neuromuscular properties of the thigh muscles in patients with ehlers–danlos syndrome
Abstract
Introduction: Ehlers–Danlos syndrome (EDS), a connective tissue disorder, may lead to impaired contractile function of lower limb muscles. Methods: To test this hypothesis and to understand the possible mechanisms involved, isometric function of the thigh muscles was investigated at different joint angles (30°, 60°, and 90° of knee flexion) in 7 tenascin‐X (TNX)‐deficient EDS patients. Results: There was reduced maximal voluntary torque of the knee extensors (but not knee flexors) across all joint angles in the patients. Time to reach maximal rate of torque development was delayed, and voluntary activation capacity was reduced in patients compared with controls, particularly at 30°. Conclusions: EDS is associated with muscle weakness, most likely due to increased compliance of the series‐elastic component of muscle tissue and failure of maximal voluntary muscle activation. Further research is required to understand the influence of reduced voluntary activation on the severe fatigue reported by EDS patients. Muscle Nerve, 2013
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Muscle weakness in TNX-deficient EDS is most likely due to increased compliance of the series-elastic component of muscle tissue and failure of maximal voluntary muscle activation.
“The results showed that muscle weakness in this type of EDS is most likely due to increased compliance of the series-elastic component of muscle tissue and failure of maximal voluntary muscle activation.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Gerrits et al., 2013
All papers describing research concerning muscular function in TNX-deficiency or their muscle tissue conclude that there is some degree of muscle weakness in patients with TNX-deficiency.
“All papers conclude that there is some degree of muscle weakness in patients with TNX-deficiency.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Gerrits et al., 2013
Cites
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
Schalkwijk, J., Zweers, M. C., Steijlen, P. M., Dean, W. B., Taylor, G., van Vlijmen, I. M., van Haren, B., Miller, W. L., & Bristow, J. (2001) · New England Journal of Medicine · doi:10.1056/nejmoa002939 · Cited by 391 · see citing works
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
Burch, G. H., Gong, Y., Liu, W., Dettman, R. W., Curry, C. J., Smith, L., Miller, W. L., & Bristow, J. (1997) · Nature Genetics · doi:10.1038/ng0997-104 · Cited by 366 · see citing works
Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients
Voermans, N. C., Altenburg, T. M., Hamel, B. C., de Haan, A., & van Engelen, B. G. (2007) · Neuromuscular Disorders · doi:10.1016/j.nmd.2007.04.004 · Cited by 36 · see citing works
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Self-citationBusch, A., Hoffjan, S., Bergmann, F., Hartung, B., Jung, H., Hanel, D., Tzschach, A., Kadar, J., von Kodolitsch, Y., Germer, C.-T., et al. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0491-2 · Cited by 38 · see citing works
Masterclass: Hypermobility and hypermobility related disorders
Simmonds, J. V. (2022) · Musculoskeletal Science and Practice · doi:10.1016/j.msksp.2021.102465 · Cited by 21 · see citing works
- Authors
- Gerrits, K. H. L., Voermans, N. C., de Haan, A., & van Engelen, B. G.
- Affiliations
- Amsterdam Movement Sciences (NL)
- Radboud University Medical Center (NL)
- Corresponding author
- Gerrits, Karin H.L.
- Venue
- Muscle & Nerve
- Publisher
- Wiley
- Published
- 2012-11-21
- Volume
- 47
- Issue
- 1
- Pages
- 96-104
- ISSN
- 0148-639X (ISSN-L)
- 1097-4598
- OpenAlex
- W1946471215
- Cited by
- 18
- References
- 3
- Citations by year
- 2021: 2 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 2 · 2015: 2 · 2014: 2 · 2013: 6
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Muscle & Nerve (publishedVersion)
- PubMed (publishedVersion)
- VU Research Portal (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Physical Sciences › Engineering › Biomedical Engineering › Muscle activation and electromyography studies
- Keywords
- Ehlers-Danlos syndrome, thigh muscle, knee extensors, knee flexors, isometric torque, voluntary activation, muscle fatigue, connective tissue diseases, muscle weakness
- MeSH terms
- Adult, Ehlers-Danlos Syndrome, Female, Humans, Knee, Knee Joint, Male, Middle Aged, Motor Activity, Muscle Contraction, Thigh, Muscle Weakness, Torque, Quadriceps Muscle
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