Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative disease of the motor neuron system. It is characterized by the progressive loss of motor neurons in the brain and spinal cord, leading to paralysis. It begins insidiously with focal weakness but spreads ceaselessly to involve most muscles, including the diaphragm. The diagnosis of ALS rests on a history of painless progressive weakness coupled with examination findings of upper and lower motor dysfunction. Typically, death is due to respiratory paralysis and it occurs within 3 to 5 years of diagnosis. Many different genes and pathophysiological processes contribute to the disease, more so, there are two types of ALS differentiated by genetics: familial and sporadic. Although ALS is incurable and fatal, with median survival of 3 years, early treatment can lengthen and substantially increase quality of life for patients.
The Igenomix Amyotrophic Lateral Sclerosis Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
Miller, R., Jackson, C., Kasarskis, E., England, J., Forshew, D., & Johnston, W. et al. (2009). Practice Parameter update: The care of the patient with amyotrophic lateral sclerosis: Drug, nutritional, and respiratory therapies (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology, 73(15), 1218-1226. doi: 10.1212/wnl.0b013e3181bc0141
van Es, M. A., Hardiman, O., Chio, A., Al-Chalabi, A., Pasterkamp, R. J., Veldink, J. H., & van den Berg, L. H. (2017). Amyotrophic lateral sclerosis. Lancet (London, England), 390(10107), 2084–2098. https://doi.org/10.1016/S0140-6736(17)31287-4
Hulisz D. (2018). Amyotrophic lateral sclerosis: disease state overview. The American journal of managed care, 24(15 Suppl), S320–S326.
Brown, R. H., & Al-Chalabi, A. (2017). Amyotrophic Lateral Sclerosis. The New England journal of medicine, 377(2), 162–172. https://doi.org/10.1056/NEJMra1603471
Tsai, M. J., Hsu, C. Y., & Sheu, C. C. (2017). Amyotrophic Lateral Sclerosis. The New England journal of medicine, 377(16), 1602. https://doi.org/10.1056/NEJMc1710379
Andersen P. M. (2004). The genetics of amyotrophic lateral sclerosis (ALS). Supplements to Clinical neurophysiology, 57, 211–227. https://doi.org/10.1016/s1567-424x(09)70359-9
Oskarsson, B., Gendron, T. F., & Staff, N. P. (2018). Amyotrophic Lateral Sclerosis: An Update for 2018. Mayo Clinic proceedings, 93(11), 1617–1628. https://doi.org/10.1016/j.mayocp.2018.04.007
Owens B. (2017). Amyotrophic lateral sclerosis. Nature, 550(7676), S105. https://doi.org/10.1038/550S105a
