Article originally published on LinkedIn Aug 12, 2018.
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects an individual’s ability to control muscle movement. This disease affects the central nervous system (the brain and spinal cord) causing muscles to atrophy (waste away). It is important to raise awareness of this disease.
The spinal cord contains neurons important for transmitting signals to other neurons and to muscles. Skeletal muscles – found all over our body e.g. biceps and quads – control voluntarily movement, smooth muscles – like those in the stomach and intestines – are involuntarily controlled and cardiac (heart) muscles encompass the characteristics of both skeletal and smooth muscles. When signals are unable to be sent from neurons to our muscles, it causes a world of problems.
Within our DNA, are instructions on how cells should make a special protein called survival motor neuron (SMN) protein. This protein plays an essential role in keeping cells in balance (homeostasis) and ensures they function properly. In some individuals however, the instructions aren’t quite clear (a mutation within the gene). This causes cells to make an abnormal form of the SMN protein, make too little of the protein or skip making it altogether.
There are different types of SMA and patients with abnormal forms of the SMN protein start showing signs at different stages of their lives – from birth all the way to adulthood.
Scientists across the globe are investigating ways to combat the disease and there are several clinical studies currently in progress. Presently, the goal is to manage the disease, and our hope is that in the near future, there will be better treatment options for individuals and families of those afflicted with this disease.
Here are some great reading resources for understanding SMA and current on-going work in drug development and clinical trials.
Talbot K, Tizzano EF. The clinical landscape for SMA in a new therapeutic era. Gene Therapy. 2017;24(9):529-533. doi:10.1038/gt.2017.52.
Parente V, Corti S. Advances in spinal muscular atrophy therapeutics. Therapeutic Advances in Neurological Disorders. 2018;11:1756285618754501. doi:10.1177/1756285618754501.
Shorrock HK, Gillingwater TH, Groen EJN. Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. Drugs. 2018;78(3):293-305. doi:10.1007/s40265-018-0868-8.
Wurster CD, Ludolph AC. Nusinersen for spinal muscular atrophy. Therapeutic Advances in Neurological Disorders. 2018;11:1756285618754459. doi:10.1177/1756285618754459.
Lally C, Jones C, Farwell W, Reyna SP, Cook SF, Flanders WD. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. Orphanet Journal of Rare Diseases. 2017;12:175. doi:10.1186/s13023-017-0724-z.
Glanzman AM, Mazzone ES, Young SD, et al. Evaluator Training and Reliability for SMA Global Nusinersen Trials. Journal of Neuromuscular Diseases. 2018;5(2):159-166. doi:10.3233/JND-180301.
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