Spinal Muscular Atrophy

This information is intended for the general public. Please consult your doctor if you need more information.

SMA affects approximately 1 in 10,000 babies born worldwide each year and is the most common genetic cause of death in infants. It is estimated that every 1 in 45 people is a carrier. SMA is an autosomal recessive genetic disorder caused by reduced levels of SMN protein throughout the body, resulting from mutations in the survival motor neuron-1 (SMN1) gene. Having low levels of functional SMN protein leads to progressive weakening and wastage of nerve cells, which control muscle movement.

Although SMA is mainly diagnosed in childhood, it can affect people at any age. However, the earlier symptoms appear, the more severe the disease. An SMA diagnosis must be confirmed through genetic testing. SMA is usually diagnosed after noticing symptoms of SMA, through newborn screening, or via prenatal testing. 

The most common symptoms of SMA, such as progressive muscle weakness, reduced stamina and fatigue, resulting in troubled breathing, coughing, and swallowing as well as losing the ability to walk, sit or stand unaided. It is a disease that robs people of their physical strength by affecting motor nerve cells, taking away the ability to walk, eat and even breathe.

It is not currently possible to cure SMA but there are treatments and support that aims to manage symptoms and help people with the condition to have the best possible quality of life. One way to treat SMA is to increase the amount of SMN protein in the body. Treatments that increase the level of SMN protein are often called “SMN-dependent” approaches. These include: replacement or correction of the faulty SMN1 gene and modulation of SMN2, the low-functioning t”back-up gene”. Other  approaches include muscle protection to prevent loss of muscle function, neuroprotection of the motor neurons affected by the loss of SMN protein as well as understanding newer approaches to identify additional systems and pathways that affect SMA.

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