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1 results

  • Case 58 - Congenital Myopathies: Nemaline Myopathy

  • 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 240-242

  • Summary

    After a normal pregnancy without hydramnios, delivery of a healthy-looking girl was uneventful. At four months of age, she had had a respiratory infection and was noted to have a weak cough. At eight months of age she was just able to keep her head in an upright position but was not able to sit unsupported. Her mother admitted that she had not been very active since birth, but there was no progressive muscle weakness and no swallowing difficulty. She was referred to a paediatric neurologist because of a suspected neuromuscular disorder. The parents were healthy and there was no consanguinity.