XXXX in a developing country: challenges in management and genetic counseling.

@entity1 @entity55 @entity1555 @entity134 @entity204
BACKGROUND AND OBJECTIVE: Multidisciplinary management of @entity1555 ( @entity1555 ) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of @entity1555 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 @entity1 . 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 @entity204 . RESULTS: There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of @entity1 obtained definite diagnosis and most of them are in physiotherapy programs but not under @entity134 treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p = 0.05). Approximately 93.33% of our @entity1 attended to education programs. Mean age at @entity204 was 18.94 +/- 6.73 years and the most frequent cause was @entity55 . CONCLUSION: Delayed diagnosis of @entity1555 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 @entity1 in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect @entity1 management and genetic counseling and could also preclude participation of @entity1 into novel clinical trials.
