Antititin antibodies have high PPV and NPV for thymoma in EOMG. In MG without thymoma, antititin antibodies can be considered as markers of LOMG, but not of a severe course in our MG cohort.

ObjectivesAutoimmune thyroid diseases (ATDs) frequently accompany myasthenia gravis (MG) and may influence its course. We aimed to determine the association and impact of ATD with early‐ (<50 years), late‐onset MG, or thymoma‐MG.Materials and MethodsPrevalence of ATD was measured in a cross‐sectional study of 343 consecutive patients with MG (236 F, 107 M) aged 4–89 years; 83.8% were seropositive, in 2.9%, anti‐MuSK antibodies were detected. Concentrations of antithyroid peroxidase antibodies, antithyroglobulin antibodies, antithyrotropin receptor antibodies, and TSH level were measured in all patients. MG clinical course, treatment received, and treatment results were evaluated.ResultsAutoimmune thyroid diseases were diagnosed in 92 (26.8%) of MG patients including 4.4% with Graves (GD), 9% with Hashimoto thyroiditis (HT), and 13.4% with antithyroid antibodies only. GD patients had ocular symptoms more often than patients with antithyroid antibodies or HT (p = .008). ATD prevalence was comparable in MG with early and late onset, while non‐ATDs were more frequent in thymoma‐MG (p = .049). Immunosuppressive therapy was less frequently needed in the patients with MG and ATD, indirectly indicating milder MG course (p = .005). Risk of myasthenic crisis and the results of treatment did not differ between patients with and without ATD.ConclusionsAutoimmune thyroid diseases are frequently accompanied by early‐and late‐onset MG, while thymoma‐MG is related to higher risk of non‐ATD. Myasthenia coexisting with ATD follows milder course than MG alone.

Background: Although approximately half of myasthenia gravis (MG) patents achieve remission, for the remaining group MG is often a lifelong disease. Better understanding of the determinants of Quality of Life (QoL) in MG is needed to optimize treatment goals in chronic cases. Materials and Methods: We performed a single center cross-sectional study in 339 MG adult patients (64.9% women), with ocular or generalized disease. SF-36 and a structured questionnaire was administered, including information on previous and current MG severity, medications, comorbidities, education, occupation and BMI of the patient. Mean disease duration was 7.5 + 9.3 years. Current age was 51.6 + 18.3 years, 55% had Early-Onset (<50 years) MG. Results: There were no statistically significant differences in mean SF-36 subscores between women and men. Worse MGFA class was related to lower QoL in physical (PCS) and mental (MCS) subscore (p = 0.000 for both). Patients with MGFA I-II class had significantly better QoL in physical and mental subscores than patients with more severe MG (p < 0.005). Late-onset MG patients had worse QoL than EOMG in physical score domain PCS (p = 0.049). Overweight and obese patients had lower PCS (p = 0.002) and MCS (p = 0.038) than patients with normal BMI. University education was related to statistically higher PCS (p = 0.015) and MCS (p = 0.006). QoL in currently employed was better in PCS and MCS (p = 0.000), with white collar workers reporting higher PCS (p = 0.049) than the remaining group. Patients living with family evaluated their MCS (p = 0.015) better than living alone. Moderate physical activity (twice a week) improved PCS (p = 0.045). Conclusion: Our study confirmed that greater severity of symptoms, age, age of onset but also BMI, type of work, education status and physical activity affect QoL in MG.

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Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely short survival time. The mutation has been initially detected in Italian ALS families with common founder effect. However, in the Polish population the G41S mutation most probably originated from an independent mutation event, as indicated by haplotype analysis. Collected data support the hypothesis that a SOD1 mutation is not the sole factor determining the clinical ALS phenotype.

B-cell activating factor (BAFF), a member of tumor necrosis factor family, activates B cells, promotes their survival and proliferation. BAFF is considered to have an influence on development of autoimmune diseases including myasthenia gravis (MG). We aimed to evaluate BAFF serum levels in MG patients, their potential connection with therapy and course of MG. Cross-sectional study. Two hundred eighteen adult patients with MG (67% women, age: 18–89 years, 82.6% AChR antibody seropositive (AChRAb(+)). Serum BAFF levels, their relationship with severity of clinical symptoms, therapy conducted, clinical and demographic features and other factors were analyzed. Patients with AChRAb(+) MG demonstrated significantly higher BAFF levels than MuSK-MG patients (831.2 ± 285.4 pg/ml vs. 745.6 ± 633.4 pg/ml, respectively; p = 0.030). Serum BAFF levels in women were significantly higher than in men (855.9 ± 302.5 vs. 756.6 ± 289.4, respectively; p = 0.017). Mean serum BAFF level was significantly decreased in patients who were ever treated with corticosteroids (CS) (770.4 ± 327.8 pg/ml vs. 891.3 ± 246.1 pg/ml, respectively; p = 0.001). Thymoma-MG patients demonstrated significantly lower BAFF levels (671.2 ± 244.9 vs. 833.5 ± 302.4, respectively; p = 0.044). Thymectomized patients did not differ in BAFF levels from the MG patients who had not undergone thymectomy. In multiple linear regression model, recent CS therapy and male sex were found to be independent predictors of lower BAFF levels. Serum BAFF level is decreased in patients treated with CS, which may suggest inhibiting influence of CS on BAFF—a potential mechanism contributing to the effectiveness of such therapy.

No abstract

Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement.