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Title: Duchenne muscular dystrophy in a developing country: Challenges in management and genetic counseling
Author: Lopez-Hernandez, L.B.
Gomez-Diaz, B.
Escobar-Cedillo, R.E.
Gama-Moreno, O.
Camacho-Molina, A.
Soto-Valdes, D.M.
Anaya-Segura, M.A.
Luna-Padron, E.
Zuniga-Guzman, C.
Lopez-Hernandez, J.A.
Vazquez-Cardenas, N.A.
Sanchez-Chapul, L.
Rangel-Villalobos, H.
Canto, P.
Lopez-Cardona, M.G.
García, S.
Mendez-Covarrubias, G.
Coral-Vazquez, R.M.
Issue Date: 2014
Abstract: Background and objective: Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. Methods: A Multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed and curated by health specialists; including clinical features, age at first symptoms, age at diagnosis, disease progression and management, family history, education, age and cause of death. Results: There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of patients obtained definite diagnosis and most of them are in physiotherapy programs but not under steroid treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p=0.05). Approximately 93.33% of our patients attended to education programs. Mean age at death was 18.94 Zapotitlán 6.73 years and the most frequent cause was pneumonia. Conclusion: Delayed diagnosis of DMD in Mexico is mainly caused by the late detection of first symptoms. There is no difference in early detection of symptoms between familiar and sporadic cases. Lifespan of patients in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect patient management and genetic counseling and could also preclude participation of patients into novel clinical trials.
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