Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

“Upon comparing our data to findings previously reported from other countries, the diagnosis of SMA as confirmed by genetic testing was delayed in many Japanese patients. In addition, the estimated incidence of SMA was notably lower than that reported in other countries. These results suggested that many SMA patients in Japan may be overlooked or misdiagnosed. SMA-NBS would allow SMA patients to undergo early treatment with the potential for the maximal therapeutic benefit.”

In that same edition, there is also an article from Brazil on SMA newborn screening:

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs

“This work highlights the comparison of two different approaches and the attributed costs. The present cost comparison and technical scenario breakdown will contribute to the decision-making process by NBS centers regarding using simplex or multiplex tests, in-house standardized tests or those acquired commercially, and budget estimates.”