Phenotypes of Myasthenia Gravis

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Background

Phenotype is any observable or identifiable structural or functional characteristics of an organism. Individuals have significant phenotypic variability, which is regulated by genetic background and influenced by the environment. Disease phenotypes are observable and recognizable traits of diseases that are not limited to hereditary diseases. A single essential feature or a specific combination of features in a disease can be defined using qualitative and quantitative description, with the goal of understanding the full spectrum of disease phenotypes, forming a reasonable diagnostic process, laying the groundwork for assessing illness severity and treatment efficacy and identifying the individualized characteristics of patients to guide a more precise personalized treatment.

Myasthenia gravis (MG) exhibits a high degree of phenotypic heterogeneity. Demographic characteristics, the scope of muscle involvement, the rate of progression, presence and level of pathogenic antibodies, the method of severity measurement, comorbidities, subgroup classification, drug efficacy and long-term stability are all phenotypic characteristics of individual patients.

A standardized evaluation procedure through the qualitative and quantitative description and a common data element (CDE) is critical for acquiring clinical data and a comprehensive understanding of MG. The definition of subgroup, drug efficacy and long-term stability requires using of these data elements to form new composite data elements through reasonable combinations. At different stages of the disease, immunological phenotypes of MG are reflected not only by the presence and quantity of pathogenic antibodies but also by the profiles of innate and adaptive immunity. Multi-omics has aided in the identification of important molecules and their dynamic changes in the development and progression of MG. Association and prediction researches based on standardized baseline phenotypes and outcome phenotypes contribute to the development of feasible individualized treatment. Relationships are analyzed among the above-mentioned phenotypes of MG and between phenotypes and genotypes.

This research topic aims to provide an overview of current issues and research methods on identifying the clinical and immunological phenotypes of MG (quantitative/qualitative descriptions, clinical indicators, and instrumental assays), allocating phenotypic features into subgroups, and using phenotypic data in association and prediction studies to develop individualized treatment.

We welcome the submission of Original Research Articles, Reviews, Brief Research Reports, Representative Case Reports and Perspectives addressing, but not limited to, the following themes:
- Clinical phenotypes of MG (demographic data, muscular involvement scope, muscular involvement sequence, severity and comorbidities).
- Immunological phenotypes of MG (relationship between autoantibodies and clinical phenotypes, innovative methodology in MG associated autoantibodies detection, immunological phenotypes [immune cells and immune molecules]).
- Newly discovered autoantibodies and clinical associations in MG.
- Clinical electrophysiology and its correlation with clinical phenotypes and immunological phenotypes of MG.
- Improvement of MG subgroup classification (classification and prognosis, subgroup classification methodology).
- Innovative evaluation methods for assessing impairments, activities of daily living, quality of life, health quality, short-term and long-term treatment efficacy and assessment of disease stability in MG.
- Immunological biomarkers for evaluating immune function and treatment efficacy in MG.
- Association and prediction studies with the above-mentioned phenotypic data.

Keywords: Myasthenia Gravis, Phenotype, Methodology, Prediction Study, Association Study, Precision Medicine

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