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CASE REPORT
Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander’s disease
  1. John McAuley1,2,
  2. Rowena Taylor3,
  3. Anita Simonds4,
  4. Sanjiv Chawda5
  1. 1 Department of Neuroscience, Barking Havering and Redbridge University Hospitals NHS Trust, Romford, UK
  2. 2 Department of Neuroscience, Queen Mary University of London, London, UK
  3. 3 Department of Respiratory Medicine, Barts Health NHS Trust, London, UK
  4. 4 Sleep + Ventilation Unit, Royal Brompton Hospital, London, UK
  5. 5 Department of Neuroradiology, BHR Hospitals, Romford, UK
  1. Correspondence to Dr John McAuley, john.mcauley{at}bhrhospitals.nhs.uk

Summary

Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander’s disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.

A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD). AOAD was confirmed genetically with a positive glial fibrillary acidic protein (GFAP) mutation. Electrophysiological study revealed 1.5 Hz rhythmic laryngeal and respiratory muscle activity. Her respiratory symptoms were significantly improved at night with variable positive pressure ventilation.

This case illustrates that palatal tremor in AOAD, and potentially in other conditions, may be associated with treatable breathlessness due to a similar tremor of respiratory muscles.

  • Movement disorders (other than Parkinsons)
  • Neuroimaging
  • Mechanical ventilation
  • neurogenetics

https://doi.org/10.1136/bcr-2016-218484

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    Footnotes

    • Contributors JA contributed substantially to managing the patient, planned the report and conducted a literature search pertaining to the report, wrote the manuscript, revised drafts of the manuscript and agrees to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

      RT contributed substantially to the respiratory aspects of patient management, revisions of drafts of the manuscript and approval of the submitted version and agrees to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

      AS contributed substantially to the respiratory aspects of patient management, revisions of drafts of the manuscript and approval of the submitted version and agrees to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

      SC contributed substantially to the radiological aspects of patient management, revisions of drafts of the manuscript and approval of the submitted version and agrees to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.