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Case 5 - Spinal and Bulbar Muscular Atrophy (SBMA; Kennedy Disease)

from Disorders of the Anterior Horn Cell

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 58-year-old man had to give up his weekly swimming club as gradually he could no longer keep up with his peers and had difficulty climbing out of the water. He had always been a keen hiker, but for the past four years had to shorten the distance. His body weight increased. Six months prior to referral he sprained his ankle after stumbling over a threshold. In the dark, he had difficulty finding his way to avoid falling. He tended to choke when drinking a cup of tea. His mother’s deceased brother had become wheelchair dependent after retiring.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 84
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Breza, M, Koutsis, G. Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol 2019;266(3):565573. doi: 10.1007/s00415-018-8968-7. Epub 2018 Jul 13. PMID: 30006721.CrossRefGoogle ScholarPubMed
Hashizume, A, Fischbeck, KH, Pennuto, M, Fratta, P, Katsuno, M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). J Neurol Neurosurg Psychiatry 2020;91(10):10851091. doi: 10.1136/jnnp-2020-322949. PMID: 32934110.CrossRefGoogle ScholarPubMed
Pradat, PF, Bernard, E, Corcia, P, et al.; French Kennedy’s Disease Writing Group. The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations. Orphanet J Rare Dis 2020;15(1):90. doi: 10.1186/s13023-020-01366-z. PMID: 32276665; PMCID: PMC7149864.CrossRefGoogle ScholarPubMed

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