Background Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease,
mostly occurring in infants and children, leading to muscle wasting and weakness, and …

Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-
threatening group of conditions affecting more than 30 million people in Europe. Their …

Background Spinal muscular atrophy (SMA) is the most common neurodegenerative
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …

Abstract Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic
neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by …

Background Spinal muscular atrophy (SMA) is a rare and devastating condition for which
new disease-modifying treatments have recently been approved. Given the increasing …

Aim To compare the societal financial costs and quality of life (QoL) of untreated patients
with spinal muscular atrophy (SMA) and treated patients identified because they presented …

Background: Spinal muscular atrophy type 1 (SMA1) is a devastating genetic disease for
which gene-replacement therapy may bring substantial survival and quality of life benefits …

Background: Spinal muscular atrophy (SMA) is a rare neurodegenerative disease
characterized by progressive muscular weakness, which occurs in one in 6,000 to 10,000 …

Objectives To systematically review the literature of quality of life (QoL) of patients with
spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease …

Background Health-related quality of life (HRQoL) of patients with X-linked
hypophosphatemia (XLH) is lower than that of both the general population and the patients …