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Kennedy's disease

Lookup NU author(s): Dr Helen DevineORCiD

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Abstract

© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. 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.

Publication metadata

Author(s): Devine H, Solomons M, Zampedri L, Hanna MG, Rinaldi C, Fratta P, Jayaseelan D

Publication type: Article

Publication status: Published

Journal: Practical Neurology

Year: 2024

Volume: 24

Issue: 4

Pages: 302-305

Print publication date: 01/08/2024

Online publication date: 14/03/2024

Acceptance date: 07/02/2024

ISSN (print): 1474-7758

ISSN (electronic): 1474-7766

Publisher: BMJ Publishing Group

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

DOI: 10.1136/pn-2023-004041

PubMed id: 38485225

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