Spinal muscular atrophy (SMA): a condition overview and infographic
What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular condition.1 It leads to progressive muscle weakness and atrophy because of degeneration of nerve cells in the spinal cord (motor neurons).2 There is a wide spectrum of how severely SMA affects children and adults.3
SMA occurs in about 1 in 10,000 live births.4
SMA may affect daily activities such as:5
- breathing
- eating
- hugging
- grabbing
- nodding
- sitting
- walking
Muscle weakness, reduced stamina, fatigue and pain may make it difficult for people with SMA to carry out everyday tasks and be independent, heavily impacting their quality of life.5
Understanding the impact of SMA5
In addition to the impact of SMA on a person’s motor function, other consequences of the condition have an impact, too. These may include:
- problems with swallowing and food intake
- contractures of the joints
- deformities of the bones and spine (scoliosis)
- reduced bone density
- impairment of digestion
- impairment of breathing
- impairment of the voice
- increased fatigue and decreased stamina
- chronic pain
- psychological problems
- impact on other cells and tissues of the body
References
[1] https://doi.org/10.1186/s13023-017-0671-8
[2] https://doi.org/10.1007/s00115-021-01256-0
[3] https://doi.org/10.1186/s12883-015-0473-3
This digital spotlight has been made possible with financial support from F. Hoffmann-La Roche Ltd. The content was developed in collaboration with SMA Europe and F. Hoffmann-La Roche Ltd. All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.
Date of preparation: April 2024 – M-GB-00016468
