About SMA

SMA is a genetic disorder that starts in the central nervous system (CNS) and affects all the muscles in the
body. Due to the degenerative nature of the disease, people with SMA will experience a decline in muscle
strength over time, although the rate and severity can vary among individuals.

SMA is caused by a lack of survival motor neuron (SMN) protein, a protein that’s key for muscle development and movement.

Muscles need signals from the CNS
SMN1 is mutated in SMA
SMA=insufficient SMN protein

People with SMA will lose motor function throughout their lives.

The rate of disease progression varies from person to person, and there is no sure way to tell when someone with SMA will start to lose motor function.

Motor function loss can become more obvious over time
Type and age aren’t true predictors of motor function loss

Motor function loss progresses over
time. That’s why it’s important to
receive an
accurate diagnosis and
speak with a doctor about treatment
for SMA.

Genetic testing can confirm an SMA diagnosis or SMA carrier status.

Genetic testing is an important first step in accurately diagnosing rare diseases like SMA. In cases where a family history of SMA exists or symptoms suggestive of the disease present themselves, genetic testing can help to confirm the diagnosis by looking at genetic material to determine if the SMN1 gene is missing or damaged. Some states also have newborn screening for SMA to help identify and plan for treatment before symptoms even develop. Above and beyond this, genetic testing is often required to initiate SMA treatment.

Ready to begin your SPINRAZA journey?