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Cardiac involvement in laminopathies – short invited review

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Nigro G., Carboni N., Marchel M., Palladino A., Madej-Pilarczyk A., Opolski G., Hausmanowa-Petrusiewicz I., Politano L.
Family Medicine & Primary Care Review
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2015
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issue 4
327-329
2
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Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland

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Madej-Pilarczyk A.
International Journal of Occupational Medicine and Environmental Health
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2014
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vol. 27
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issue 2
270-277
EN
Objectives: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare genetic disorder affecting skeletal and heart muscles. The aim of this study was to identify factors which might influence the ability to work in EDMD patients in Poland. Material and Methods: The study included 24 patients suffering from either of the two EDMD forms: 17 with emerinopathy (EDMD1; EDMD caused by mutations in the emerin gene) and 7 with laminopathy (EDMD2; EDMD caused by the lamin A/C gene mutations). After clinical evaluation of EDMD course, study participants were questioned about their education, current and former employment, and disability certificates and pensions. Results: 54% of the study participants were employed, and 90% of them had job position corresponding to their education. Undertaking work did not correlate with the level of physical performance or disease complication, but it revealed statistically significant correlation with a higher level of education (p = 0.015). Only 23% of professionally active patients were employed in a sheltered workplace. Disability certificate was granted to all EDMD2 and to 90% of EDMD1 patients. All EDMD2 and 50% of EDMD1 patients received a disability pension, which reflects more severe course of EDMD2. Conclusions: Higher level of education increased the chance of employment, even if significant disability was present. Therefore, I hypothesize that advice on education and jobcounseling should be applied as early as possible after the diagnosis of EDMD.
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