Background Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease
that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam …

Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease
characterized by an onset at 6 months of age or younger, an inability to sit without support …

Background Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease
caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor …

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 …

Importance Corticosteroids improve strength and function in boys with Duchenne muscular
dystrophy. However, there is uncertainty regarding the optimum regimen and dosage …

Aim To summarize the current knowledge on brain involvement in spinal muscular atrophy
(SMA) type 1, focusing on brain pathology, cognition, and speech/language development …

Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized
by loss of motor neurons and muscle atrophy. Untreated infants with type 1 SMA do not …

Background Risdiplam is an oral small molecule approved for the treatment of patients with
spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal …

Background Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …

The 6 minute walk test has been recently chosen as the primary outcome measure in
international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients …