Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

Background & Aims Spinal muscular atrophy (SMA) is an autosomal recessive, childhood-
onset motor neuron disease. Onasemnogene abeparvovec (OA) is a gene therapy designed …

Background Nusinersen is a 2′-O-methoxyethyl phosphorothioate-modified antisense drug
being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to …

Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease
characterized by the degeneration of alpha motor neurons in the spinal cord, leading to …

Abstract Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and
wasting in the voluntary muscles of infants and children. SMA has been the leading inherited …

Many neuromuscular diseases are genetically inherited or caused by mutations in motor
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …

Background Spinal muscular atrophy is a rare genetic disease with devastating
neurodegenerative consequences. Timing of diagnosis is crucial for spinal muscular atrophy …

Background The clinical features of SMA, which range along a spectrum of severity, are
relatively well described. In contrast, the literature on how individuals with SMA and their …

In the past decade, improved understanding of spinal muscular atrophy (SMA)
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …