Rare Disease Highlight: Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic disease which affects the part of the nervous system controlling voluntary muscle movement.1 SMA is the most common cause of mortality in infants associated with a genetic mutation. It affects approximately 1 in 6,000 to 10,000 people.2 Patients with SMA develop progressive muscle weakness caused by the loss of specialized nerve cells called motor neurons in the spinal cord and the brain stem. The symptoms of SMA cover a broad spectrum of severity based on the age at disease onset and motor ability.3 The most common form of SMA (accounting for 95% of all cases) is associated with mutations in the survival motor neuron 1 (SMN1) gene which lead to SMN1 protein deficiency and eventual loss of motor neurons.4 Currently there is no cure for this serious and life-threatening disease. While there are treatments to help manage the condition, the development of new SMA therapies are necessary to address longstanding unmet needs.5

References used
  1. Faravelli, I., Nizzardo, M., Comi, G., & Corti, S. (2015). Spinal muscular atrophy—recent therapeutic advances for an old challenge. Nature Reviews Neurology, 11(6), 351-359. doi: 10.1038/nrneurol.2015.77
  2. Pearn, J. (1978). Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. Journal Of Medical Genetics, 15(6), 409-413. doi: 10.1136/jmg.15.6.409
  3. Russman, B. (2007). Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. Journal Of Child Neurology, 22(8), 946-951. doi: 10.1177/0883073807305673
  4. Kolb, S. (2011). Spinal Muscular Atrophy. Archives Of Neurology, 68(8), 979. doi: 10.1001/archneurol.2011.74
  5. Spinal Muscular Atrophy Treatment – SMA News Today. (2019). Retrieved from https://smanewstoday.com/spinal-muscular-atrophy-treatment

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