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A difficult case
Kennedy’s disease
  1. Helen Devine1,2,
  2. Matthew Solomons1,
  3. Luca Zampedri1,
  4. Michael G Hanna3,
  5. Carlo Rinaldi1,4,
  6. Pietro Fratta1,
  7. Dipa Jayaseelan1
  1. 1 Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
  2. 2 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK
  3. 3 Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
  4. 4 Department of Paediatrics, University of Oxford, Oxford, UK
  1. Correspondence to Dr Dipa Jayaseelan, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; dipa.jayaseelan{at}nhs.net

Abstract

A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and was found to have gynaecomastia. This triggered genetic testing for Kennedy’s disease leading to the correct diagnosis. This case highlights an unusual presentation of a rare disease leading to misdiagnosis and major repercussions for the patient. Recent genetic analysis from the 100 000 genome project suggests Kennedy’s disease may be four times more prevalent in the population than previously thought, highlighting the need to consider genetic testing, especially if there is a suggestion of multisystem disease.

  • MOTOR NEURON DISEASE
  • NEUROGENETICS
  • GENETICS
  • CLINICAL NEUROLOGY

Data availability statement

No data are available.

https://doi.org/10.1136/pn-2023-004041

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    Data availability statement

    No data are available.

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    Footnotes

    • X @HelenDevine10

    • Contributors HD, MS and DJ prepared the original manuscript. All authors contributed to the article and approved the final version.

    • Funding HD was supported by an MRC Clinical Research Training Fellowship for this work. PF is supported by a UK MRC Senior Clinical Fellowship and Lady Edith Wolfson Fellowship (MR/M008606/1 and MR/S006508/1), the Neurological Research Trust and KDUK. CR is supported by a Career Development Fellowship grant from the Wellcome Trust to CR (205162/Z/16/Z). MGH is part of the ICGNMD Consortium, funded by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; Externally peer reviewed by Andrew Chancellor, Tauranga, New Zealand.