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OP-105 Early detection for improved outcomes in spinal muscular atrophy
  1. Andrada Mirea1,
  2. Madalina Cristina Leanca2,
  3. Daniela Dorina Vasile2,
  4. Vlad Dima3,
  5. Elena Silvia Shelby2,
  6. Elena Neagu2
  1. 1University of Medicine and Farmacy ‘Carol Davila’, Bucharest
  2. 2National University Hospital for Children Neurorehabilitation ‘Dr. Nicolae Robănescu’ (NUHCN), Bucharest
  3. 3Clinical Hospital ‘Filantropia’, Bucharest


Aim Spinal Muscular Atrophy (SMA) is a rare genetic disorder that causes muscle weakness and atrophy due to the impact on motor neurons in the spinal cord. It is the leading cause of infant mortality and symptoms typically appear in the first few months of life. Early diagnosis and intervention are crucial for improving outcomes and providing appropriate care for affected infants. Newborn screening (NBS) has emerged as a powerful tool in identifying infants with SMA before symptoms develop.

Material and Method The process of newborn screening for SMA involves testing a small blood sample, taken from a newborn’s heel. This sample is then analyzed for specific genetic markers associated with SMA. The introduction of NBS for SMA has revolutionized the diagnosis and management of this condition. It allows for early identification of affected infants, enabling prompt medical intervention and access to specialized care.

Results Early diagnosis through NBS offers several advantages. Firstly, it allows for timely initiation of treatment, such as gene therapy or other disease-modifying therapies, which have shown promising results in halting or slowing the progression of SMA. Secondly, it provides an opportunity for genetic counseling and family planning, allowing parents to make informed decisions about future pregnancies. Additionally, NBS helps identify carriers of the SMA gene, enabling them to seek appropriate genetic counseling and testing.

Conclusions NBS for spinal muscular atrophy is of utmost importance. It plays a vital role in early detection, intervention, and management of this devastating genetic disorder. By identifying affected infants before symptoms appear, NBS allows for timely treatment initiation, improving outcomes and quality of life. The implementation of NBS for SMA can save lives, reduce the burden on affected families. It is crucial that healthcare systems worldwide recognize the significance of newborn screening for SMA and work towards its widespread implementation.

  • spinal muscular atrophy
  • newborn screening
  • presimptomatic treatment
  • SMA newborn screening

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