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3 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.

  • Reanimation following facial palsy: present and future directions

  • Y Ramakrishnan, S Alam, A Kotecha, D Gillett, A D'Souza
  • Journal:
    The Journal of Laryngology & Otology / Volume 124 / Issue 11 / November 2010
    Published online by Cambridge University Press:
    15 June 2010, pp. 1146-1152
    Print publication:
    November 2010
  • Background:

    An understanding of the management of chronic facial palsy is vital for otolaryngologists, due to its common presentation to ENT surgeons. There is currently a lack of consensus on the optimum management of this condition. This article reviews the existing literature and offers a perspective on current management, as well as an insight into future treatments.

    Methods:

    A literature search was performed, using the Medline, Embase and Cochrane databases from 1966 to the present, using the keywords listed below. Articles were reviewed. Selection was limited to English language articles on human subjects.

    Results and conclusion:

    A tailored, multidisciplinary approach using combinatorial therapy should be used for reanimation of the face following facial palsy. Advances in surgical and non-surgical techniques, and the exchange of information from centres of excellence via global databases, will enable objective appraisal of results and the development of an evidence-based approach to facial reanimation.