25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy

Francesco Danilo Tiziano, Eduardo F. Tizzano

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

The new era of advanced therapies has influenced and changed the views and perspectives of a neuromuscular disease such as spinal muscular atrophy (SMA). Being an autosomal recessive motor neuron disorder, characterized by different degrees of muscle weakness, after 25 years of the discovery of the determinant and modifier genes (SMN1 and SMN2, respectively) three SMN-dependent specific therapies are already approved by FDA (two by EMA), so that worldwide patients are currently under clinical investigation and treatment. This success was the combined effort mainly of patients and families, physician and researchers, advocacy groups and several Institutions together with the support of pharmaceutical companies. Progression trajectories, phenotypes, follow-up and care of the patients are continously evolving. Clinical investigations are currently demonstrating that early diagnosis and intervention are essential for better and more effective response to treatment, consistently improving prognosis. This scenario has created the need for awareness, early diagnosis and even implementation of of newborn screening programs. New views and perspectives of patient and family expectations, genetic counselling and multidisciplinary care: a truly Copernican revolution in neuromuscular and genetic diseases.
Lingua originaleEnglish
pagine (da-a)336-344
Numero di pagine9
RivistaActa Myologica
Volume39
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • advanced therapies
  • antisense oligonucleotides
  • early diagnosis and intervention
  • gene therapy
  • genetic counselling
  • spinal muscular atrophy

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