Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease
Spinal muscular atrophy is typically characterized as a motor neuron disease. Untreated
patients with the most severe form, spinal muscular atrophy type 1, die early with infantile-
onset progressive skeletal, bulbar, and respiratory muscle weakness. Such patients are now
living longer due to new disease-modifying treatments such as gene replacement therapy
(onasemnogene abeparvovec), recently approved by the US Food and Drug Administration,
and nusinersen, a central nervous system-directed treatment which was approved by the US …
patients with the most severe form, spinal muscular atrophy type 1, die early with infantile-
onset progressive skeletal, bulbar, and respiratory muscle weakness. Such patients are now
living longer due to new disease-modifying treatments such as gene replacement therapy
(onasemnogene abeparvovec), recently approved by the US Food and Drug Administration,
and nusinersen, a central nervous system-directed treatment which was approved by the US …