Background and purpose Spinal muscular atrophy (SMA) is the most important cause of
motor neuron disease in childhood, and continues to represent the leading genetic cause of …

Spinal Muscular Atrophies (SMA) are a group of degenerative diseases primarily affecting
the anterior horn cells of the spinal cord and resulting in muscle weakness and atrophy …

Background Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic
diseases leading to premature death or severe motor disability. New therapies have been …

Objective: To characterize the short-term course of spinal muscular atrophy (SMA) in a
genetically and clinically well-defined cohort of patients with SMA. Design: A comprehensive …

INTRODUCTION—Neuromuscular disorders that present in the newborn period with
hypotonia and weakness can be caused by a variety of conditions that affect the central …

Background Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the
survival motor neuron (SMN) 1 gene. The nearly identical SMN2 gene plays a disease …

Introduction Spinal muscular atrophy (SMA) is caused by a defect in the survival motor
neuron 1 (SMN1) gene. The Cooperative Study of the natural history of SMA Type I in …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with
degeneration of the anterior horn cells in the spinal column. Five SMA subtypes exist with …

Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases
characterized by loss of motor neurons, muscle weakness, hypotonia and muscle atrophy …

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular
disorder characterised by degeneration of spinal cord anterior horn cells, leading to …