Spinal Muscular Atrophies of Childhood

SMA 1: due casi, venticinque anni di progresso

Barachino A.

2026/7 — pag. 213-213 — DOI

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 in...

Un lattante che fa (molta) fatica a respirare

P. Assandro, G. Ferrara, A.M. Bramino Chiapello, E. Bignamini

2013/6 — pag. 377-384

The correct diagnosis, the treatment, and the medical care of a newborn with hypotonia and respiratory distress are difficult because several diseases can have similar clinical presentations. The article describes a case of an eight-year-old child,...

Come una bambola di pezza: sindrome di Werdnig-Hoffmann

A. Baio

2010/9

SMA1 abita con noiVademecum per una sostenibile vita quotidiana a casa

2010/6 — pag. 391-392

È giustificato un diverso approccio terapeutico nel trattamento dell’atrofia muscolare spinale di tipo 1? Insegnamenti da un caso clinico

C. Geraci, G. Paloni, A. Saccari, L. Badina, E. Barbi, E. Catarruzzi, R. Sartori, G. Ottonello

2008/4 — pag. 260-261

Children affected by spinal muscular atrophy (SMA) can develop serious respiratory complications including atelectasis, pneumonia, small airway obstruction and acidosis, principally because of impaired cough secondary to weakness of chest wall. I...