August 18, 2017

by: Emily Hastings

Disability Spotlight: Spinal Muscular Atrophy (SMA)

Each month we will feature a different disability represented at UCP of Greater Cleveland. Due to our name, many people think we only serve people with cerebral palsy, but we hope this series will help to dispel that myth. This month we are featuring spinal muscular atrophy (SMA) because August is SMA Awareness month.

• SMA is a rare genetic motor neuron disease characterized by loss of functioning motor neurons which leads to progressive muscle weakness and atrophy. This can even include muscles that allow a person to breathe.
• SMA affects everyone differently and symptoms can vary greatly depending on age of onset (from birth to early adulthood) and rate of progression. Click here for more details.
• SMA is the most common fatal genetic disease in children under two years of age.
• SMA affects approximately eight to ten babies out of 100,000 in the United States.
• It is estimated that 1 in 50 people are genetic carriers of the disease.
• Chromosome 5 SMA is the most common form of SMA, and is caused by a deficiency of a protein called SMN, “survival of motor neuron.” The deficiency is caused by genetic flaws/ mutations on chromosome 5 in a gene called SMN1.
• SMA does not affect neurons for cognition
• Spinraza (Nusinersen) was approved in December 2016, and is the first and only FDA-approved treatment for SMA. Many are touting this as the “miracle drug” for those with SMA.

Jayce, one of our LeafBridge clients, has SMA. He is turning five years old next month and has been working with LeafBridge therapists for three years. Some of his primary goals include maintaining joint integrity, which includes progression by using a stander; working on head control to allow him to properly use his Eye Gaze for computer access; and learning to use his power wheelchair with a joystick that is very specific to his needs. You can follow Jayce’s progress on his Facebook page, Jayce’s Journey: https://www.facebook.com/jaycesmajourney/

Sources:

• Muscular Dystrophy Association – https://www.mda.org/
• Together in SMA – https://www.togetherinsma.com/en_us/home.html
• Harvard Gazette – http://news.harvard.edu/gazette/story/2017/04/harvard-scientists-find-evidence-that-als-and-sma-could-be-treated-with-a-common-drug/

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