title: Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling.
abstract: 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 +/- 6.73 years and the most frequent cause was pneumonia.
  
  
  CONCLUSIONS
  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.
authors: L B
authors: LB
authors: López-Hernández
authors: B
authors: B
authors: Gómez-Díaz
authors: R E
authors: RE
authors: Escobar-Cedillo
authors: O
authors: O
authors: Gama-Moreno
authors: A
authors: A
authors: Camacho-Molina
authors: D M
authors: DM
authors: Soto-Valdés
authors: M A
authors: MA
authors: Anaya-Segura
authors: E
authors: E
authors: Luna-Padrón
authors: C
authors: C
authors: Zúñiga-Guzmán
authors: J A
authors: JA
authors: Lopez-Hernández
authors: N A
authors: NA
authors: Vázquez-Cárdenas
authors: L
authors: L
authors: Sánchez-Chapul
authors: H
authors: H
authors: Rangel-Villalobos
authors: P
authors: P
authors: Canto
authors: M G
authors: MG
authors: López-Cardona
authors: S
authors: S
authors: García
authors: G
authors: G
authors: Méndez-Covarrubias
authors: R M
authors: RM
authors: Coral-Vázquez
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis / Q000706:statistics & numerical data*; D003906:Developing Countries; D019468:Disease Management; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D006801:Humans; D007223:Infant; D008297:Male; D008800:Mexico / Q000453:epidemiology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D012189:Retrospective Studies; D055815:Young Adult