Welcome to the spinal muscular atrophy (SMA) disease state page. This page contains select disease state topics for your interest and consideration, and it is not intended to serve as a comprehensive overview of these topics. By clicking on the link(s) below, you attest that this is an unsolicited request for information intended for your own education. The information contained herein is intended for educational purposes only and does not replace independent, professional medical judgment.

SMA is a rare, debilitating, autosomal recessive, and monogenic neuromuscular disease characterized by irreversible and progressive motor neuron loss. Please see the video for an overview of epidemiology, clinical features, progression, pathogenicity, and disease course of SMA.

Genetic etiology of spinal muscular atrophy and SMN protein

Survival motor neuron (SMN) protein plays an important role in normal cellular and neuronal development. Learn more about the genetic etiology of SMA, how SMN protein functions in normal development, and the effect of insufficient SMN protein.

Natural history of patients with type 1, 2, or 3 SMA

Spinal muscular atrophy is a disease with a wide spectrum. Without intervention, patients present with a range of disease severity ranging from in utero- and infantile-onset, with high premature mortality, to adult-onset, with progressive muscle weakness. Access more information regarding the clinical presentation of each type of SMA and patients’ natural history by clicking on the link below.

The scientific information may include data/information on investigational use(s) of compounds/drugs for which efficacy and safety have not been established. Information available on this website is not intended to promote or otherwise commercialize (directly or indirectly) any off-label or unapproved uses of Novartis products.