Myasthenia gravis with antibodies to MuSK: An update

Amelia Evoli, Paolo E. Alboini, Valentina Damato, Raffaele Iorio, Carlo Provenzano, Emanuela Bartoccioni, Mariapaola Marino

Research output: Contribution to journalReview articlepeer-review

Abstract

Myasthenia gravis with antibodies to the muscle-specific tyrosine kinase (MuSK+ MG) is a rare disease with distinctive pathogenic mechanisms and clinical features. An acute onset and predominant bulbar muscle weakness are very common and highly suggestive of the disease. On the other hand, a more indolent course, atypical ocular presentation, and signs of cholinergic hyperactivity may complicate the diagnosis. Though MuSK+ MG is still a severe disease, over the years we have observed a steady reduction in the rate of respiratory crisis and a significant improvement in the clinical outcome, both likely related to earlier diagnosis and timely treatment. Despite the improved management, MuSK+ MG patients tend to remain dependent on long-term immunosuppressive treatment and may develop permanent disabling weakness. In uncontrolled studies, B cell depletion with rituximab proved effective in most patients with refractory disease, inducing prolonged clinical responses associated with a sustained reduction of serum antibody levels. Promising results from experimental studies and case reports suggest that both 3,4-diaminopyridine and albuterol may be effective as symptomatic agents.

Original languageEnglish
Pages (from-to)82-89
Number of pages8
JournalAnnals of the New York Academy of Sciences
Volume1412
DOIs
Publication statusPublished - Jan 1 2018

Keywords

  • MuSK
  • MuSK antibodies
  • Myasthenia gravis
  • Rituximab

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

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