Spinal muscular atrophy (SMA), an inherited, progressive neuromuscular disease that can cause muscle atrophy1, was first discovered in infants in the early 1890’s by physicians Guido Werdnig and Johan Hoffman. About a century later, it was revealed that a mutation of the survival motor neuron-1 (SMN1) gene is the cause of SMA2. Without the functional SMN1 gene, the body relies on a back-up gene, SMN2, which is much less effective in producing SMN protein. SMN protein is found throughout the body, and increasing evidence suggests that SMA is a multi-system disorder and the loss of SMN protein may cause nerve cells to function improperly, leading to debilitating and sometimes fatal muscle weakness.1
Since then, the research community has learned much more about how the disease affects people differently. For the last decade, Genentech and its research partners, SMA Foundation and PTC Therapeutics, have been conducting clinical trials for a potential SMA treatment3. With each study, we have come to learn more about the intricacies of this disease and the importance of research that encompasses a broad range of people with varying symptoms and motor abilities.
With the support and encouragement from patients, caregivers, advocates and researchers, as well as a better understanding of this disease, Genentech aims to bring new hope to this resilient community.
Watch the video below to learn more about SMA.
Want to dive further into SMA? Check out this infographic for more educational information.