Abstract
We report a 51-year-old male diagnosed with X-linked recessive spinal and bulbar muscular atrophy (SBMA) by genetic testing who presented with 30 years history of progressive proximal and bulbar weakness responsive to cholinesterase inhibitor. Although the anti-acetylcholine receptor antibody (anti-AChR Ab) was negative, the myasthenic state was confirmed by decremental response in repetitive nerve stimulation and increased jitter frequency and blocking in single fiber-electromyography. While myasthenia gravis and SBMA may co-exist independently in an individual having the signs and symptoms of both conditions, the absence of anti-AChR Ab may imply that myasthenia can be an exaggerated activity-induced fatigue or weakness from the latter.
This is a preview of subscription content, log in via an institution to check access.
References
Breza M, Koutsis G (2019) Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol 266:565–573. https://doi.org/10.1007/s00415-018-8968-7
Arnold FJ, Merry DE (2019) Molecular mechanisms and therapeutics for SBMA/ Kennedy’s disease. Neurotherapeutics 16:928–947. https://doi.org/10.1007/s13311-019-00790-9
Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M et al (2018) Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease. J Neurol Neurosurg Psychiatry 89:808–812. https://doi.org/10.1136/jnnp-2017-316961
Noto Y, Misawa S, Mori M, Kawaguchi N, Kanai K, Shibuya K et al (2013) Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block. Clin Neurophysiol 124:1893–1898. https://doi.org/10.1016/j.clinph.2012.12.053
Jaretzki A 3rd, Barohn RJ, Ernstoff RM, Kaminski HJ, Keesey JC, Penn AS et al (2000) Myasthenia gravis: recommendations for clinical research standards: task force of the medical scientific advisory board of the myasthenia gravis foundation of America. Neurology 55:16–23. https://doi.org/10.1212/wnl.55.1.16
Stevic Z, Peric S, Pavlovic S, Basta I, Lavrnic D (2014) Myasthenic symptoms in a patient with Kennedy’s disease. Acta Neurol Belg 114:71–73. https://doi.org/10.1007/s13760-013-0189-3
Yamada M, Inaba A, Shiojiri T (1997) X-linked spinal and bulbar muscular atrophy with myasthenic symptoms. J Neurol Sci 146:183–185. https://doi.org/10.1016/s0022-510x(96)00303-6
Boz C, Kalay E, Sahin N, Velioglu S, Ozmenoglu M, Karagüzel A (2004) Ocular myasthenia gravis associated with X-linked recessive spinal and bulbar muscular atrophy. J Clin Neuromuscul Dis 5:115–118. https://doi.org/10.1097/00131402-200403000-00001
Kaji R, Bostock H, Kohara N, Murase N, Kimura J, Shibasaki H (2000) Activity-dependent conduction block in multifocal motor neuropathy. Brain 123:1602–1611. https://doi.org/10.1093/brain/123.8.1602
Greenland KJ, Beilin J, Castro J, Varghese PN, Zajac JD (2004) Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy’s disease. J Neurol 251:35–41. https://doi.org/10.1007/s00415-004-0266-x
Acknowledgements
We would like to acknowledge the assistance extended by Mr. Narihiro Minami, MSc of the Section of Molecular Diagnosis and Genetics, National Center Hospital for Mental, Nervous, and Muscular Disorder, National Center of Neurology and Psychiatry, Japan.
Author information
Authors and Affiliations
Contributions
Roland Dominic G. Jamora: data analysis, revision of manuscript, study supervision, and final approval. Mario B. Prado, Jr.: data acquisition and analysis, drafting, and revision of manuscript. Carlos L. Chua: data analysis, revision of the manuscript, and study supervision.
Corresponding author
Ethics declarations
Conflict of interest
The authors do have any conflict of interests.
Ethical approval
None
Informed consent
A written informed consent was obtained from the patient for the publication of this case report and any accompanying images.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Roland Dominic G. Jamora and Mario B. Prado Jr. are Joint first authors
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Jamora, R.D.G., Prado, M.B. & Chua, C.L. Acetylcholinesterase inhibitor responsive myasthenia in a Filipino male with X-linked recessive spinal and bulbar muscular atrophy. Neurol Sci 42, 4317–4320 (2021). https://doi.org/10.1007/s10072-021-05358-0
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10072-021-05358-0