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IntroductionCharcot-Marie-Tooth type 1A (CMT1A) comprises ~50% of all CMT cases. CMT1A is a slowly progressive motor and sensory neuropathy that leads to significant disability. We aimed to investigate the quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL.Material and MethodsForty-five genetically confirmed patients with CMT1A were included −60% women [age 50.4 ± 12.6 years, disease duration 22 (12.5–31.5) years]. SF-36, Medical Research Council (MRC) Sum Score, CMT Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used in the study.ResultsRegarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, whereas Role Physical was the worst domain. Worse QoL in patients with CMT1A was associated with elder age (rho = −0.34, p < 0.05), longer disease duration (rho = −0.31, p < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, p < 0.01), presence of tremor (p < 0.05), worse CMTES (rho = −0.68, p < 0.01), more severe disability in upper (rho = −0.70, p < 0.01) and lower limbs (rho = −0.61, p < 0.01) measured by ONLS scores, use of walking aids (p < 0.01), and with depression (p < 0.01) and fatigue (p < 0.01). Worse scores on CMTES (beta = −0.43, p < 0.01), BDI (beta = −0.39, p < 0.01), and FSS (beta = −0.36, p < 0.01) were significant independent predictors of worse QoL in patients with CMT1A (adjusted R2 = 0.77, p < 0.001).ConclusionBesides impairment made directly by CMT1A itself, QoL in these patients was also strongly affected by the presence of depression and fatigue. Since CMT1A is still not a curable disease, it is of interest to identify factors associated with QoL that are amenable to treatment.

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IntroductionMyotonic dystrophy type 2 (DM2) is a rare autosomal dominant multisystemic disease with highly variable clinical presentation. Several case reports and one cohort study suggested a significant association between DM2 and autoimmune diseases (AIDs).AimThe aim of this study is to analyze the frequency and type of AIDs in patients with DM2 from the Serbian DM registry.Patients and MethodsA total of 131 patients with DM2 from 108 families were included, [62.6% women, mean age at DM2 onset 40.4 (with standard deviation 13) years, age at entering the registry 52 (12.8) years, and age at analysis 58.4 (12.8) years]. Data were obtained from Akhenaten, the Serbian registry for DM, and through the hospital electronic data system.ResultsUpon entering the registry, 35 (26.7%) of the 131 patients with DM2 had AIDs including Hashimoto thyroiditis (18.1%), rheumatoid arthritis, diabetes mellitus type 1, systemic lupus, Sjogren's disease, localized scleroderma, psoriasis, celiac disease, Graves's disease, neuromyelitis optica, myasthenia gravis, and Guillain-Barre syndrome. At the time of data analysis, one additional patient developed new AIDs, so eventually, 36 (28.8%) of 125 DM2 survivors had AIDs. Antinuclear antibodies (ANAs) were found in 14 (10.7%) of 63 tested patients, including 12 without defined corresponding AID (all in low titers, 1:40 to 1:160). Antineutrophil cytoplasmic antibodies (ANCAs) were negative in all 50 tested cases. The percentage of women was significantly higher among patients with AIDs (82.9% vs. 55.2%, p <0.01).ConclusionAIDs were present in as high as 30% of the patients with DM2. Thus, screening for AIDs in DM2 seems reasonable. Presence of AIDs and/or ANAs may lead to under-diagnosis of DM2.