For patients with SMA, disease progression
is lifelong1-3

SMA is a progressive neuromuscular disease4

SMA is defined as a neuromuscular disease of the central nervous system (CNS) that results in the deterioration of motor function and strength over time, due to motor neuron loss, although the rate and severity vary. Watch to learn more about the causes and symptoms of SMA.3,5,6

Mechanism of disease

Watch the video to learn about the clinical manifestations and cause of SMA.

The broad range of SMA symptoms includes7:

// Weakness that is usually symmetrical and more proximal than distal

// Absent or diminished tendon reflexes

// Difficulty or inability to walk

// Respiratory issues that may require tracheostomy or ventilation 

SMA is caused by a lack of functional SMN protein5

Two nearly identical genes produce survival motor neuron (SMN) protein4

People with SMA have a homozygous deletion of their SMN1 gene, and rely on the SMN2 gene to produce functional SMN protein. However, SMN2 can only produce about 10% of the protein that motor neurons need to power muscles, resulting in the progressive loss of strength and motor function that all with SMA experience.4,5

Why it’s important to consider treating SMA as soon as possible

Motor function loss may be permanent and unpredictable1,6,9

Because the rate of motor function loss is different for every patient, there is no way to predict when motor function loss will occur or how severe it will be.

Adults with later-onset SMA are at risk for progression1-3,9

Despite apparent plateaus, untreated adults with later-onset SMA will continue to lose muscle strength or function over time.

Treatment of SMA involves many different types of healthcare specialists