The spinal muscular atrophy health index: italian validation of a disease-specific outcome measure

Spinal Muscular Atrophy (SMA) is one of the most common genetically-inherited autosomal recessive disorders, caused by a homozygous mutation of the SMN1 gene at the 5q13 chromosome region [1,2]. This neurodegenerative condition leads to muscle atrophy and weakness. Classically, the classification of SMA was based on the age of symptom onset and severity. Clinical heterogeneity characterizes adults with SMA [3 –5]. Within subtypes there is remarkable diversity in neuromotor functional limitations that impact the lives of affected individuals [6].

Source: Neuromuscular Disorders - February 9, 2021 Category: Neurology Authors: Valeria A. Sansone, Alice Pirola, Andrea Lizio, Lucia Catherine Greco, Giorgia Coratti, Jacopo Casiraghi, Marika Pane, Maria Carmela Pera, Cristina Italiano, Sonia Messina, Susanna Pozzi, Maria Sframeli, Adele D'Amico, Enrico Bertini, Claudio Bruno, Luca Source Type: research