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Review
. 2025 Jan;46(1):125-132.
doi: 10.1007/s10072-024-07675-6. Epub 2024 Jul 5.

AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges

Anna Rosa Avallone  1 , Vincenzo Di Stefano  2 , Liliana Bevilacqua  2 , Paolo Alonge  2 , Antonino Lupica  2 , Simona Maccora  2 , Roberto Monastero  2 , Sonia Amabile  3 , Paolo Barone  1 , Filippo Brighina  2 , Claudia Vinciguerra  4
Affiliations
Review

AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges

Anna Rosa Avallone et al. Neurol Sci. 2025 Jan.

Abstract

The co-occurrence of genetic myopathies with myasthenia gravis (MG) is extremely rare, however a few studies have been reported. We aim to explore the link between genetically inherited muscle disorders and immune-mediated neuromuscular junction conditions, taking into account the diagnostic and therapeutic implications posed by these combined conditions. We searched all English medical papers registered in Web of Knowledge, PubMed, Google Scholar, and Science Direct between January 1987 concerning the association between muscular dystrophies (MD) and MG, also adding three new cases to the series reported so far. Three new clinical cases in which MG concurs with oculopharyngeal muscular dystrophy (OPMD) or facioscapulohumeral muscular dystrophy (FSHD) or myotonic dystrophy type 2 (DM2) were reported. A comprehensive literature review showed that FSHD is the dystrophy most frequently associated with generalized MG. The AChR antibody titer is high and neurophysiologic tests prove to be an essential tool for the diagnosis. The association between MG and MD is rare but should not be underestimated. The presence of unusual clinical features suggest investigating additional overlapping condition, especially when a treatable disease like MG is suspected.

Keywords: Facioscapular muscular dystrophy; Genetic myopathies; Immune-tolerance breakdown; Myasthenia gravis; Myotonic dystrophy type 2; Neuromuscular junction; Oculopharyngeal muscular dystrophy.

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Conflict of interest statement

Declarations. Ethical approval: The study was approved by the local Ethics Committee and all procedures were in accordance with the 1964 Declaration of Helsinki. Conflict of interest: The authors declare no competing interest.

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