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1 results

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

  • from Myopathies
  • Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
  • Book:
    Neuromuscular Disease
    Published online:
    29 November 2024
    Print publication:
    19 December 2024, pp 193-195

  • 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.