This is the second half of a two-part document updating the standard of care
recommendations for spinal muscular atrophy published in 2007. This part includes updated …

Autosomal-recessive proximal spinal muscular atrophy (Werdnig–Hoffmann, Kugelberg–
Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with …

Patients with neuromuscular disorders are at high risk of intraoperative and postoperative
complications. General anesthesia in these patients may exacerbate respiratory and …

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: Many patients with spinal muscular atrophy (SMA) who might benefit from
intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion …

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor
neurons that is caused by a defective “survival motor neuron”(SMN) protein that is mainly …

Twenty-three participants from a number of centers in Italy met in Rome, Italy, to discuss
respiratory involvement in SMA and to agree on a minimal set of management …

Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited
lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies …

Background: To determine the effectiveness of combined noninvasive ventilation (NIV) and
mechanical insufflator-exsufflator (MI-E) for acute respiratory failure (ARF) in patients with …

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by muscle
weakness and atrophy resulting from progressive degeneration and loss of the anterior horn …