Welcome to the Spinal Muscular Atrophy Learning Zone
Spinal muscular atrophy (SMA) is a heterogeneous, genetic, neuromuscular disease with complications that impact multiple organs. Patients with SMA have insufficient levels of the survival of motor neuron (SMN) protein which results in motor neuron loss. The loss of motor neurons in patients with SMA results in significant loss of motor function. Click below to watch Dr Giovanni Baranello, one of the leading experts in the treatment of SMA, explain improvement of motor function in patients with SMA.
This Learning Zone provides an overview of SMA including pathophysiology, genetics of the underlying disease, disease burden, diagnosis, treatment guidelines and disease management. Also covered are the most recent regulatory approvals, new developments in research and ongoing clinical trials that impact disease management and treatment.
Learn more about this heterogeneous genetic neuromuscular disease and the genetic basis for classification of Type I to Type IV.
SMA is one of the leading causes of inherited infant mortality in the world. This section looks at the role of early diagnosis in prevention of irreversible motor neuron damage.
What are the approved and in development treatments for SMA and how are they aiming to improve motor function and quality of life in patients with SMA?
This content has been developed independently of the funding sponsor Roche who provided HCP and patient video content for this site.
This site is not intended for healthcare professionals outside of Europe.
This site is not intended for healthcare professionals in the UK.
M-XY-00000009 Date of preparation: September 2020.