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AMYOTROPHIC LATERAL SCLEROSIS

About ALS

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease or Lou Gehrig’s disease is a devastating multisystem neurodegenerative disease. ALS is primarily characterized by degeneration of both upper and lower motor neurons.¹² The condition leads to progressive motor decline, and generally people die from failure of respiratory muscles two to four years after disease onset.¹³

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Around 50% of patients with ALS will also suffer with extra-motor manifestations, such as changes in behavior, and problems with language and executive function.¹²

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ALS can be separated into familial and sporadic ALS.¹⁴ Sporadic is more prevalent, accounting for around 90% of cases and occurs when only one person in a family has ALS.¹⁴ Familial ALS accounts for 10% of cases and in this instance more than one family member has ALS.¹⁴

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The estimated global prevalence of ALS is 4.1–8.4 per 100,000 people.¹⁶ and the average age at onset is 58–63 years for sporadic ALS and 40–60 years for familial ALS, with a peak incidence in those aged 70–79 years.¹⁷

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Research shows variations in 40+ genes associated with ALS.¹⁵ Globally, the most common include expansions of chromosome 9 open reading frame 72 (C9orf72) and variants in superoxide dismutase 1 (SOD1), TANK1-binding kinase 1, fused in sarcoma (FUS), and TAR DNA-binding protein 43 (TDP-43).¹⁵

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There is currently no cure for ALS, and patient care is focused on symptom management and palliative care.¹⁸ Some disease modifying treatments are available, however these offer limited or unconfirmed benefit.¹⁹

REFERENCES

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  10. Greaves and Rohrer J Neurol. 2019; 266(8): 2075–2086.
  11. Kuang, L., et. al. Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides. Human Molecular Genetics 2020;29(4):624-634;
  12. Chiò A et al. Amyotroph Lateral Scler. 2009;10(5–6):310–23;
  13. Masrori P and Van Damme P. Eur J Neurol. 2020;27(10):1918–29;
  14. Salmon K et al. Brain. 2022;145(4):1207–10;
  15. Longinetti E, Fang F. Epidemiology of amyotrophic lateral sclerosis: an update of recent literature. Curr Opin Neurol. 2019;32(5):771-776;
  16. Ingre C, Roos PM, Piehl F, Kamel F, Fang F. Risk factors for amyotrophic lateral sclerosis. Clin Epidemiol. 2015;7:181-193;
  17. Schultz J. Am J Manag Care. 2018;24(15 Suppl):S327–335;
  18. Hergesheimer R et al. Expert Opin Pharmacother. 2020;21(9):1103–10.

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