Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal
cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have …

Background: Early treatment after genetic newborn screening (NBS) for SMA significantly
improves outcomes in infantile SMA. However, there is no consensus in the SMA treatment …

Spinal muscular atrophy (SMA) is a rare inherited autosomal recessive progressive disease
of a varying phenotype, with varying clinical symptoms, and as a result the patients suffering …

Background: Despite calls for the use of real-world data, the rare diseases (RD) treatment
landscape suffers from a scarcity of data referred to orphan medicinal products (OMP) use at …

Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disease associated
with progressive loss of motor function. Risdiplam, a daily oral therapy, was approved in the …

Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular condition affecting
spinal motor neurons. The underlying cause of SMA is deletions or mutations in the SMN …

Background: Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular
disease characterized by a wide spectrum of progressive muscular atrophy and weakness …

Spinal muscular atrophy (SMA), identified over a century ago, is characterized by severe
muscle wasting and early mortality. Despite its rarity, the high carrier frequency of the …

The therapy of many neurological disorders has advanced markedly during recent decades.
Not so for neurodegenerative disorders. Early detection, deep individual genotyping and …

Objetivo: Analisar as características da atrofia muscular espinhal (AME). Revisão
bibliográfica: A AME é uma das doenças neurodegenerativas monogênicas mais …