Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of lower motor neurons, with resulting progressive muscle …

Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons
associated with muscle paralysis and atrophy. Childhood SMA is a common recessive …

Objective We investigated the presence of non-neuromuscular phenotypes in patients
affected by Spinal Muscular Atrophy (SMA), a disorder caused by a mutation in the Survival …

Of the numerous inherited diseases known to afflict the pediatric population, spinal muscular
atrophy (SMA) is among the most common. It has an incidence of approximately one in …

The natural history of SMA is complex and variable. For this reason, clinical subgroups have
been defined based upon best motor function attainment during development. Type 1 SMA …

Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function
mutations in the survival motor neuron 1 gene, which results in a broad range of disease …

Objective We report natural history data in a large cohort of 199 patients with spinal
muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale …

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in
the survival motor neurone gene (SMN). The degeneration and loss of the anterior horn cells …

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of
motor neurons in the anterior horn of the spinal cord and resultant weakness. The most …

PURPOSE OF REVIEW This article provides an overview of the pathophysiology and clinical
presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments …