Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients
Abstract
The Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. Skeletal muscle features belong to the clinical criteria of EDS and are generally interpreted to result from increased tendon distensibility or exercise avoidance. However, muscle function in EDS has hardly been investigated as such. We performed a pilot study consisting of clinical investigations, electromyography, muscle ultrasound, muscle biopsy, and quantitative muscle function tests on two EDS patients with deficiency of tenascin-X. Quantitative muscle function proved severely reduced despite normal findings on electromyography and muscle biopsy. These findings dispute the interpretation of increased tendon distensibility. We hypothesize that alterations in the extracellular matrix modify myofascial force transmission and thus influence muscle function in EDS.
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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 Voermans et al., 2007
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- Authors
- Voermans, N. C., Altenburg, T. M., Hamel, B. C., de Haan, A., & van Engelen, B. G.
- Affiliations
- Radboud University Medical Center (NL)
- Manchester Metropolitan University (GB)
- Corresponding author
- Voermans, N.C.
- Venue
- Neuromuscular Disorders
- Publisher
- Elsevier BV
- Published
- 2007-08
- Volume
- 17
- Issue
- 8
- Pages
- 597-602
- ISSN
- 0960-8966 (ISSN-L)
- OpenAlex
- W2134602817
- Cited by
- 36
- References
- 29
- Citations by year
- 2026: 2 · 2025: 1 · 2021: 1 · 2020: 4 · 2018: 1 · 2017: 2 · 2016: 3 · 2015: 3 · 2013: 3 · 2012: 8
- FWCI
- 1.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuromuscular Disorders (publishedVersion)
- PubMed (publishedVersion)
- VU Research Portal (publishedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- 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
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Tendon Structure and Treatment
- Keywords
- Ehlers-Danlos syndrome, connective tissue diseases, extracellular matrix, myofascial force transmission, muscle ultrasound, electromyography, muscle biopsy
- MeSH terms
- Adult, Biopsy, Ehlers-Danlos Syndrome, Electromyography, Female, Humans, Middle Aged, Ultrasonography, Muscle, Skeletal, Tenascin, Torque
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