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Lookup NU author(s): Dr Nikoletta Nikolenko, Professor Hanns Lochmuller
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Background: In Cyprus over the past years various interventions have been implemented, such as genetic counselling, national neonatal screening program for CPK, steroid treatment and ventilation support, in order to reduce the incidence of the disease and increase the life expectancy of the patients with Duchenne Muscular Dystrophy (DMD).Aims: The collection of epidemiological data to measure the prevalence and incidence of DMD in Cyprus from 1974-2009. The collection of medical data in order to provide an efficient selection of patients to clinical trials or therapy.Methods: Patients suffering from DMD were identified through the database of the MDAcy. Registry data was collected from the patients directly or their legal representatives following written informed consent. The inclusion criteria included male gender, Cypriot residents with a European Union nationality, confirmation of the DMD diagnosis from a neurologist.Results: Since 1974 until today, 41 patients with DMD have been born in Cyprus, of which 17 (41.5%) are still alive. The prevalence of DMD in Cyprus for 2012 was approximately 2:100,000 population. The 35 year (1974-2009) cumulative incidence of DMD in Cyprus is 1:4,350 male births, with the highest between years 1985-1989 (1:2,278) and the lowest between the years 2005-2009 (1:22,881). Out of the 12 registered patients in the national DMD registry 58.3% lost their ability to walk, 16.7% never took steroids as treatment for their condition, 41.7% were diagnosed with cardiomyopathy and 50% used mechanical ventilation. The most common deletions (77.8% of the cases) occurred between exons 45-55. The duplications occurred between exons 3-6 and 12-17.Conclusion: The interventions that have been implemented in the recent years helped to increase the life expectancy of the DMD patients, reduce the incidence of the disease in the population of Cyprus, and to prevent of having two or more individuals with the same disease in one family.
Author(s): Nikolenko N, Yiangou A, Lochmuller H, Lavranos G
Publication type: Conference Proceedings (inc. Abstract)
Publication status: Published
Conference Name: Annual Neuromuscular Translational Research Conference 2016
Year of Conference: 2016
Acceptance date: 20/01/2016
