Patients with Spinal Muscular Atrophy Celebrate First FDA-Approved Treatment

Did you know that the #1 genetic cause of death for infants is spinal muscular atrophy (SMA)?

It quickly robs the infant of physical strength, rendering the child unable to breathe, or move. It is diagnosed through genetic testing, because other conditions can mimic the symptoms of SMA.

There are four primary types of SMA. They are SMA Types I, II, III, and IV:

  • Type I: This is the most serious type, and also the most common, affecting 60% of the diagnosed cases. It is often fatal before the child reaches adulthood.
  • Type II: This type is diagnosed before the child reaches age two. Children with this form frequently fail to meet motor milestones, or their motor skills are delayed.
  • Type III: This type is usually diagnosed before the child reaches age three, but in some cases, patients aren’t identified until they are teenagers. Mobility is gradually limited, and eventually these patients require the use of a wheelchair. It’s also known as Kugelberg-Welander disease.
  • Type IV: As the least severe form, this type causes only mild impairment. Patients are diagnosed usually after the age of 35.

For once, there’s a bright spot on the horizon.

A new drug, Spinraza (nusinersen), was recently approved by the FDA. It’s the first treatment available, and while it’s expensive ($125,000 per injection), it is helping people with SMA live longer.

There are other medications in the pharma “pipeline” at the moment, so there is great reason for hope.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email