Recommendations regarding the early recognition of neuromuscular disorders (with a focus on Duchenne muscular dystrophy)
Introduction…………………………………………………………………………………………………………….. 11
Neuromuscular disorders…………………………………………………………………………………………….. 12
Strategies to facilitate early recognition…………………………………………………………………………….. 12
First-level diagnostic work-up…………………………………………………………………………………………. 13
The primary care pediatrician: role and place in the chain of public healthcare
for children with rare diseases……………………………………………………………………………………….. 14
Who are the experts in rare diseases and how can they be reached? ……………………………………….. 14
How to obtain information?………………………………………………………………………………………….. 15
From suspicion to diagnosis………………………………………………………………………………………….. 16
Guiding the family during the diagnostic process: the responsibility of the primary care pediatrician……… 16
Conclusions…………………………………………………………………………………………………………….. 16
References……………………………………………………………………………………………………………… 17
Websites……………………………………………………………………………………………………………….. 18