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1 results

  • Case 36 - Duchenne Muscular Dystrophy (DMD)

  • 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 173-175

  • Summary

    A boy was referred at the age of 2 years and 8 months because of frequent falls. This occurred several times per day and he had hurt his head on multiple occasions. Earlier major motor milestones had been delayed by several months. He had achieved rolling over at 9 months, crawling at 15, and independent walking just before his second birthday. Speech and language development were also behind as his first word had been heard around the age of 2 and he now mastered no more than ten. He was friendly in his behaviour and made good eye contact. Pregnancy and birth had been unremarkable. His mother was 5 months pregnant with her second child. Family history was unremarkable.