Spinal Muscular Atrophy

​​​​​Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls our ability to move our muscles voluntarily. This disease affects the muscles, causing them to be inactive and get smaller (atrophy). This diagnosis can have a wide range of presentations with different ages of onset, symptoms and rate of progression.

There are 4 types of SMA that an individual may have. Children with more severe types of SMA are usually diagnosed at a younger age and have more limited muscle strength and functional abilities. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1). SMA onset in children (types 2 and 3), teens or adults (type 4) generally correlates with higher levels of motor function.

What Is the Treatment for Spinal Muscular Atrophy?

The occupational and physical therapists' roles may change slightly based on the type of SMA your child has.

Children with SMA 1 may benefit most from assistance with positioning, contracture management, opportunities for early mobility so they may experience age-appropriate activities, and adaptations of their environment to help them participate appropriately.

For the child with SMA type 2 and 3, the therapy focus is also on increasing independent mobility as well as energy conservation techniques. The therapists provide mobility options that are both efficient and safe for the child, while enabling them to participate actively in life skills and interactions between family and community.

For individuals with SMA who are in need of ongoing services as they age, there is a transition clinic which provides resources for the patient and family.


Nusinersen Is Delivered to First Patient After FDA Approval

Alexandria has spinal muscular atrophy. Her family was given new hope when they received the very first dosage of nusinersen after it was FDA-approved.

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