Abstract Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in
SMN1 and results in the loss of motor neurons and progressive muscle weakness. The …

Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive
muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available …

Background Survival and quality of life for patients affected by spinal muscular atrophy
(SMA) are thought to have improved over the last decade due to changes in care. In …

Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease
characterized by progressive and diffuse weakness and muscular atrophy. SMA is the most …

Background This study aimed at analyzing the economic burden and disease-specific health-
related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany …

Introduction Gene therapy for spinal muscular atrophy (SMA) represents a significant
milestone in the treatment of neurologic diseases. SMA is a neurodegenerative disease that …

The limb-girdle muscular dystrophies (LGMDs) are a diverse group of genetic
neuromuscular conditions that usually manifest in the proximal muscles of the hip and …

Objective To investigate the natural course of scoliosis and to estimate lifetime probability of
scoliosis surgery in spinal muscular atrophy (SMA). Methods We analyzed cross-sectional …

Background Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic
diseases leading to premature death or severe motor disability. New therapies have been …