[pubmed] Acetylcholinesterase inhibitor responsive myasthenia in a Filipino male with X-linked recessive spinal and bulb
Posté : 04 juin 2021 12:00
Neurol Sci. 2021 Jun 3. doi: 10.1007/s10072-021-05358-0. Online ahead of print.
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.
PMID:34085109 | DOI:10.1007/s10072-021-05358-0
Source: https://pubmed.ncbi.nlm.nih.gov/3408510 ... 1&v=2.14.4