Amyotrophic Lateral Sclerosis

Description

  • Amyotrophic lateral sclerosis (ALS) is a progressive disease of the nerve cells in the brain, brain stem and spinal cord that control voluntary muscle movement. Over time, ALS weakens the muscles, which impacts physical function of the body. This is the most common form of adult inherited motor neuron disease. ALS may also be referred to as Lou Gehrig's disease.

How often is a hereditary cause identified?

  • 5-10% of cases of ALS have an underlying genetic etiology (the likelihood goes up if there is a family history of ALS of Frontotemporal dementia, FTD). Some hereditary causes of ALS can result in both clinical FTD and/or ALS in the same individual patient or patients within the same family. Thus, patients from ALS families could potentially be at risk for developing FTD (please see FTD section).

How does identifying a hereditary cause change a patient’s medical management?

  • Therapies are under development to target specific genetic causes of ALS.

  • If a genetic cause is identified, this can provide information for family planning as well as information to understand the risk to family members.

How are these conditions inherited?

  • Known genetic causes of ALS can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.

Where can I learn more about Amyotrophic Lateral Sclerosis?

References

  • Chambers C, Lichten L, Crook A, Uhlmann WR, Dratch L. Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders. Neurol Clin Pract. 2023 Oct;13(5):e200201. doi: 10.1212/CPJ.0000000000200201. Epub 2023 Sep 15. PMID: 37736067; PMCID: PMC10511270.

  • Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Evidence-based consensus guidelines for ALS genetic testing and counseling. Ann Clin Transl Neurol. 2023 Sep 10. doi: 10.1002/acn3.51895. Epub ahead of print. PMID: 37691292.

  • Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts. J Neurol. 2023 Oct 27. doi: 10.1007/s00415-023-12058-6. Epub ahead of print. PMID: 37891417.