Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration
of motor neurons in the spinal cord and is caused by mutations of the survival of motor …

Introduction: Spinal muscular atrophy (SMA) is one of the most common inherited
neuromuscular disorders. It causes progressive muscle weakness and results in significant …

Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by
motor neuron loss, resulting in progressive weakness. SMA is notable in the health care …

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …

Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3
(SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in …

2. Background Spinal muscular atrophy (SMA) is one of the most common neuromuscular
diseases. While SMA is a monogenic disorder, there is a broad range of phenotypes from …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons
associated with progressive muscle weakness and atrophy, is the most common genetic …

Background The universal presence of a gene (SMN2) nearly identical to the mutated SMN1
gene responsible for Spinal Muscular Atrophy (SMA) has proved an enticing incentive to …

Background This qualitative study examined how individuals with Spinal Muscular Atrophy
(SMA), their caregivers, and clinicians defined meaningful change, primarily in the Type II …