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01-10-2021 | Myasthenia Gravis | Brief Communication

Acetylcholinesterase inhibitor responsive myasthenia in a Filipino male with X-linked recessive spinal and bulbar muscular atrophy

Authors: Roland Dominic G. Jamora, Mario B. Prado Jr., Carlos L. Chua

Published in: Neurological Sciences | Issue 10/2021

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.

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Title: Acetylcholinesterase inhibitor responsive myasthenia in a Filipino male with X-linked recessive spinal and bulbar muscular atrophy
Authors: Roland Dominic G. Jamora
Mario B. Prado Jr.
Carlos L. Chua
Publication date: 01-10-2021
Publisher: Springer International Publishing
Keywords: Myasthenia Gravis
Fatigue
Published in: Neurological Sciences / Issue 10/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05358-0

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Acetylcholinesterase inhibitor responsive myasthenia in a Filipino male with X-linked recessive spinal and bulbar muscular atrophy

Abstract

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