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Case 43 - Bethlem Myopathy, a Collagen VI-Related Myopathy (LGMDD5); Ullrich Congenital Muscular Dystrophy

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 55-year-old man had had muscle complaints for as long as he could remember. He could not stretch his arms or walk without shoes due to deformities of the feet. Proximal muscle weakness was mild and slowly progressive over years, and contractures had always been prominent. His stamina was low, but he still worked full-time as a manual worker. He was otherwise healthy.

Family history revealed that his father was similarly affected. In addition, a half-brother and half-sister not only had contractures but also had muscle weakness. The latter underwent surgery for torticollis in the neonatal period.

Keywords

muscle weaknessproximalsymmetriccontracturestorticollishyperlaxitykeloidautosomal dominantautosomal recessiveBethlem myopathy,collagen VIUllrich congenital muscular dystrophy
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 193 - 195
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Delbaere, S, Dhooge, T, Syx, D, et al. Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. Genet Med. 2020 Jan;22(1):112–123. doi: 10.1038/s41436-019-0599-6. Epub 2019 Jul 5. PMID: 31273343.CrossRefGoogle ScholarPubMed
Foley, AR, Quijano-Roy, S, Collins, J, et al. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013 Dec;136(Pt 12):3625–3633. doi: 10.1093/brain/awt284. Epub 2013 Nov 22. PMID: 24271325; PMCID: PMC3859224.CrossRefGoogle ScholarPubMed
Foley, AR, Mohassel, P, Donkervoort, S, Bolduc, V, Bönnemann, CG. Collagen VI-related dystrophies. 2004 Jun 25 [updated 2021 Mar 11]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301676.Google Scholar
Jöbsis, GJ, Boers, JM, Barth, PG, de Visser, M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain. 1999 Apr;122 (Pt 4):649–655. doi: 10.1093/brain/122.4.649. PMID: 10219778.CrossRefGoogle ScholarPubMed
Salim, R, Dahlqvist, JR, Khawajazada, T, et al. Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy. J Neurol. 2020 Aug;267(8):2432–2442. doi: 10.1007/s00415-020-09860-x. Epub 2020 May 3. PMID: 32363432.CrossRefGoogle ScholarPubMed

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