Spinal muscular atrophy

Spinal muscular atrophy is a rare, hereditary neuromuscular disorder primarily caused by biallelic mutations or deletions in the *SMN1* gene, leading to a deficiency of survival motor neuron protein This deficit results in the progressive degeneration and loss of lower motor neurons within the anterior horn of the spinal cord and lower brainstem Clinical severity spans a broad continuum—from severe infantile-onset weakness with early respiratory failure to milder juvenile or adult-onset forms th...

This deficit results in the progressive degeneration and loss of lower motor neurons within the anterior horn of the spinal cord and lower brainstem Pathophysiologically, the disease manifests as symmetric, progressive muscle weakness and wasting that predominantly impacts proximal limb muscles, axial musculature, and respiratory muscles

Pathophysiologically, the disease manifests as symmetric, progressive muscle weakness and wasting that predominantly impacts proximal limb muscles, axial musculature, and respiratory muscles

Clinical severity spans a broad continuum—from severe infantile-onset weakness with early respiratory failure to milder juvenile or adult-onset forms that impair ambulation