viernes, 15 de marzo de 2024

Diagnosis and Management of Myotonic Dystrophy Type 1 J Hartman et al, JAMA March 11, 2024 (Posted Mar 11, 2024 2PM)

https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=nd&query=home From the article: " Myotonic dystrophy type 1 is the most common form of muscular dystrophy. A recent genetic prevalence study of 50?382 consecutive births from the New York state newborn screening program estimated prevalence to be approximately 1:2100 individuals. This estimate is substantially higher than previously reported global estimates, which ranged from 5 to 20 per 100?000 individuals.2 Additional prevalence studies are needed with representative populations in other regions of the world. In an analysis of 679 patients in a US registry, individuals with myotonic dystrophy type 1 had a 7-year delay from symptom onset to diagnosis."

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