Casi indimenticabili
SMA 1: due casi, venticinque anni di progresso
SMA Type 1: two cases, twenty-five years of progress
Angela Barachino
Pediatra di famiglia, Mira (VE)
Settembre 2026 | DOI: 10.53126/MEBXXIXST213
Abstract
This paper illustrates the clinical evolution of Spinal Muscular Atrophy type 1 (SMA 1) by comparing two paediatric cases managed 25 years apart. The first case reflects the natural history of the disease prior to targeted treatments, resulting in infant death at six months despite supportive care. The second case shows the impact of gene therapy, administered at 52 days of age in 2023, which led to significant motor progress, preserved swallowing and respiratory stability at one year. This comparison highlights how gene therapy and newborn screening have radically transformed SMA 1 prognosis, while also addressing the complex relational dynamics between healthcare providers and families during long-term care.
Contenuto riservato
Per leggere l'articolo è necessario effettuare il login.
Per l'acquisto del singolo articolo scrivi a
abbonamenti@medicoebambino.com
(la mail si prepara da sola con gli estremi dell'articolo);
se accedi, la richiesta parte con un click.