What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy is an inherited neuromuscular condition which affects 1 in 6,000-10,000 babies born every year. 

George and others with SMA show a generalised weakness and wasting of the muscles. At the moment, there is no routine prenatal testing to see if a mother is a carrier of the gene which causes this condition. There is currently no cure, but SMA has been singled out as the genetic disease closest to treatment!

How does Spinal Muscular Atrophy affect the body?

Spinal Muscular Atrophy very specifically affects certain nerve cells in the spinal cord called lower motor neurons. These degenerate and consequently impair the link between the brain and the muscles. As these muscles can no longer be used, they start to wither due to inactivity.

The motor neurons affected in SMA are those which enable walking, crawling, arm and neck movement, and swallowing. In George’s case, the muscles used in breathing are also affected and this could lead to breathing complications.  George is also susceptible to respiratory infections which for him can be life threatening.

How can Spinal Muscular Atrophy be managed?

Research has shown that people affected by SMA are often very intelligent and can develop considerable talents and skills. With the appropriate mobility aids and help with other aspects of physical independence, those with SMA can take an active part in family and social activities.

George has regular physiotherapy and hydrotherapy to maintain his muscle strength where possible. He uses various pieces of orthotic equipment to help him maintain a good sitting position and, with the help of a frame and legs supports, a standing position. George’s spine is frequently examined to help prevent and manage the onset of scoliosis (curvature of the spine.)