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Spinal Muscular Atrophy

Nusinersen is Delievered 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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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.

Treatment

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.

Learn about the Mazza Foundation Neuromuscular Program and our neuromuscular therapy services​.​


First Treatment for Spinal Muscular Atrophy Submitted for FDA Approval

A major milestone was reached when nusinersen, an investigational treatment for spinal muscular atrophy (SMA), was shown to significantly improve achievement of motor milestones in babies with infantile-onset SMA. Lurie Children’s had the highest patient enrollment in the study.

Learn more.