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  • Publication : 18 09 2018
  • Catégorie :La recherche médicale et génétique

Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention.    

Abstract
With the recent advances in spinal muscular atrophy therapies, the complete scenario of standard of care and following up is changing not only in the clinical field with new phenotypes emerging but also with new expectations for patients, caregivers and health providers. The actual evidence indicates that early intervention and treatment is crucial for better response and prognosis. Knowledge of the prenatal and pre-symptomatic postnatal stages of the disease are becoming essential to consider the opportunities of timely diagnosis and to decide the earliest therapeutic intervention.

Source : ici