SynthesisJournal of neurology2025
Familial myasthenia gravis: characterization of an Israeli cohort and systematic review of the literature.
Synthesis in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMyasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction, most commonly associated with autoantibodies against the acetylcholine receptor (AChR). While familial clustering of autoimmune MG (fMG) has been described, its prevalence and clinical characteristics remain uncertain. This study aimed to characterize autoimmune fMG cases in an Israeli cohort and describe global data through a systematic literature review.
methodsWe retrospectively analyzed the medical records of MG patients treated at Rabin Medical Center from 2000 to 2022. The clinical and demographic features of autoimmune fMG cases-defined by compatible clinical, serological, and electrophysiological features-were compared to those of sporadic MG. Additionally, a systematic review of published autoimmune fMG cases was performed according to PRISMA guidelines.
resultsAmong 281 MG patients, 16 patients (5.7%) from eight families met criteria for autoimmune fMG. Compared to sporadic MG, fMG cases had a significantly younger age of onset (median 44.5 vs. 58 years, p = 0.04) and more frequently presented with severe generalized disease (MGFA class IV-V, 43.8% vs. 15%, p = 0.008). The antibody profiles, sex distribution, ocular involvement, and comorbid autoimmune diseases did not differ significantly. All fMG patients responded to immunotherapy. The systematic review identified 73 additional fMG cases, with similar trends toward earlier onset and generalized presentation. Patients with fMG in our cohort had higher rates of severe initial presentation (43.8% vs. 16.4%, p = 0.03) and underwent thymectomy less frequently (19% vs. 49.3%, p = 0.03).
conclusionsAutoimmune familial MG occurs in 5-6% of MG cases and is associated with a younger onset and more severe initial presentation compared to sporadic MG, but shows similar long-term treatment response. These findings suggest that genetic factors may contribute to disease susceptibility and phenotypic expression in familial MG, highlighting the need for further research into the underlying genetic and immunological mechanisms.
Indexed as
Identifiers
40634627What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.