​If you have a family history of ALS or frontotemporal dementia (FTD), or if you carry a genetic variant associated with these conditions, you may have questions about your risk, genetic testing, monitoring, research opportunities, and available support.

Decades of progress in genetics, biomarker research, and emerging therapies is changing how researchers and clinicians think about inherited forms of ALS. Today, individuals and families affected by genetic ALS have more opportunities than ever before to access genetic counseling, consider genetic testing, participate in research, and receive specialized monitoring and support.
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While many questions remain, significant progress has been made toward understanding, monitoring, and caring for people at increased genetic risk of ALS and FTD.

ALS and Frontotemporal Dementia (FTD)

ALS and frontotemporal dementia (FTD) are closely related neurodegenerative diseases that can share a genetic cause. Several genes are associated with both ALS and FTD, meaning that different members of the same family may develop ALS, FTD, both conditions, or neither condition. The most common genetic cause of both ALS and FTD is a change in the C9orf72 gene.

Understanding the relationship between ALS and FTD can help individuals and families make informed decisions about genetic counseling, testing, research participation, and future planning.

Additional support and educational resources are available through The Association for Frontotemporal Degeneration.

What does it mean to be “at risk”?

A person may be considered at increased genetic risk for ALS if they:
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  • Have tested positive for an ALS-associated genetic variant
  • Have a parent, sibling, or child who carries an ALS-associated genetic variant
  • Have a family history of ALS, FTD, or both
Being at increased genetic risk does not mean that you will definitely develop ALS. Risk varies depending on the specific genetic variant involved, family history, age, and other factors that researchers are still working to understand.
If you are concerned about genetic ALS risk, consider these first steps:
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  • Learn about genetic testing and genetic counseling
  • Connect with an ALS clinic or genetics professional
  • Seek support from others with lived experience
  • Learn about monitoring options and emerging models of care
  • Explore research opportunities if they are right for you

A Note about Terminology

Here are some commonly used terms you may encounter:
  • Gene carrier: A person who tested positive for a genetic variant associated with ALS
  • Asymptomatic gene carrier: A person who carries an ALS-associated genetic variant but does not currently have symptoms of ALS
  • ​Presymptomatic*: A term commonly used in research to describe a person who carries an ALS-associated genetic variant but does not currently have symptoms​ ​
*While the word presymptomatic remains common in research, many clinicians and researchers are increasingly using terms such as at risk or asymptomatic gene carrier because it is often not possible to know with certainty whether or when an individual will develop symptoms over time.

Genetic Counseling and Testing

Many individuals with a family history of ALS or FTD wonder whether genetic testing is right for them. Genetic testing can sometimes identify a disease-associated genetic variant that may increase the risk of developing ALS or FTD. However, testing does not provide all the answers. Not all genetic causes of ALS have been identified, and some test results may be uncertain or difficult to interpret.
For this reason, genetic counseling is an important part of the testing process.

Genetic counselors can help individuals and families understand:
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  • The benefits and limitations of testing
  • Possible test results and what they may mean
  • Family planning considerations
  • Emotional and psychological impacts
  • Insurance and other financial impacts
  • Research opportunities
  • Available support resources

Whether or not to pursue genetic testing is a personal decision.

You can learn more about genetic counseling and testing on our Genetic ALS page.

​Here are some other helpful resources:
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  • This My ALS Decision Tool™ from the Les Turner ALS Foundation can help family members who are considering genetic counseling and testing.
  • The Genetic Testing and Counseling webinar hosted by NEALS answers common questions about testing and counseling.
  • The Genetics and ALS webinar hosted by Everything ALS addresses the implications of genetic testing and explains differences between familial and sporadic ALS.
  • The Conversation with a Genetic Counselor webinar hosted by the Les Turner ALS Foundation discusses the genetics of ALS-FTD spectrum disorders, the genetic testing process, and more.

Monitoring and Early Detection

Researchers are working to better understand what happens before ALS symptoms begin.

​One important advance has been the discovery of neurofilament light chain (NfL), a blood biomarker that can rise before symptoms appear in some forms of genetic ALS.

Scientists are studying whether biomarkers such as NfL can help identify early disease activity and guide future treatment decisions.

Although there is not yet a universally accepted monitoring approach for individuals at increased genetic risk, some specialized programs offer individualized monitoring, education, counseling, and support.

Research in this area continues to evolve, and experts are actively working to determine how best to monitor and care for people at increased genetic risk of ALS and FTD.

Care and Support for People at Genetic Risk

Living with genetic risk can be emotionally challenging. Many individuals and families experience:
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  • Uncertainty about the future
  • Difficult family conversations
  • Anxiety surrounding testing decisions
  • Questions about monitoring and research participation
  • Concerns about children and other relatives

You do not have to navigate these decisions alone. Support may be available through:
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  • Genetic counselors
  • ALS specialty clinics
  • At-risk ALS and FTD care programs
  • Research study teams
  • Advocacy organizations
  • Peer support communities

As access to genetic testing expands and researchers learn more about ALS before symptoms begin, clinicians and advocates are developing new approaches to caring for individuals at increased genetic risk.
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In 2024, an international group of clinicians, researchers, genetic counselors, advocates, and individuals with lived experience published guidance for the clinical management of individuals at increased genetic risk for ALS and FTD.

The paper provides recommendations regarding:
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  • Genetic counseling
  • Genetic testing
  • Monitoring
  • Education
  • Support
  • Research participation

You can read the full report here. A second meeting was held in 2026 to further develop these guidelines, though updates have not yet been published.
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A growing number of ALS clinics have developed programs dedicated to supporting individuals and families affected by genetic ALS and FTD. Examples include:
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For the most current list, visit End the Legacy’s At Risk Care Centers webpage.

Finding Community and Support

Many individuals and families find that connecting with others who share similar experiences can be just as important as accessing medical information.

Organizations such as End the Legacy provide educational webinars, peer support, advocacy opportunities, community events, and resources specifically for individuals and families affected by genetic ALS and FTD.
Additional organizations that may be helpful include:


These organizations can help individuals and families stay informed about research developments, educational opportunities, support programs, and emerging models of care.

Clinical Research Opportunities

Research participation has played a critical role in advancing our understanding of genetic ALS and developing new treatments.

Clinical trials test whether experimental treatments are safe and effective. The ATLAS trial (in Phase 3 and no longer enrolling) is evaluating whether early treatment with tofersen may benefit certain SOD1 gene carriers who show evidence of early biological disease activity.

As additional genetic treatments are studied, opportunities for individuals at increased genetic risk may continue to expand.
“If you really want to change the course of ALS research and treatment, you can participate in an observational study.” 

- Dr. Senda Ajroud-Driss, Northwestern Medicine
Observational studies do not test experimental treatments. Instead, researchers collect information over time to better understand how ALS develops and progresses. Knowledge gained from observational studies has contributed substantially to current advances in genetic ALS research and continues to inform future therapeutic development.
You can help advance ALS research by participating in observational studies such as these:

  • Pre-fALS (Pre-Symptomatic Familial ALS Study) is an ongoing, long-term natural history and biomarker study of people who are at risk but not yet affected with ALS that seeks to learn what happens before symptoms develop, how the disease begins and progresses, and how genetic and environmental risk factors may be at play.
  • PREVENT ALL ALS is a natural history and biomarker study funded by the NIH for people at risk of genetic ALS that seeks to develop knowledge about the early stages of ALS prior to the onset of symptoms.
  • The ALS Gene Carrier Study from Everything ALS seeks to gather data before symptoms appear in an effort to support prevention research, accelerate early detection, and strengthen future prevention trials. The study is enrolling individuals and families affected by ALS or FTD, including people living with the disease, asymptomatic individuals, gene carriers, and family members who want to help. Participation is fully remote.
  • The ALS Research Collaborative (ARC) Study is an ongoing observational study from ALS TDI that is open to asymptomatic gene carriers. The study seeks more symptomatic and asymptomatic gene carriers in order to better understand genetic ALS. ARC gathers and shares de-identified information with ALS researchers around the world. Participation is fully remote.
  • The ALLFTD Research Study is for people with FTD symptoms and those who are at risk. This includes people who have a variant in the C9orf72 gene or who have FTD and ALS. You can learn more and get on the wait list at www.allftd.org.
​Research opportunities change frequently. To find trials and studies for people who are at risk, you can start by asking your ALS neurologist or advocacy organization. It is also important to use online search tools that can filter for trials and studies with a genetic focus. For detailed guidance on using online search tools, visit our Finding Trials and Studies page.​

Looking Ahead

The field of genetic ALS is advancing rapidly. Researchers are developing new therapies, identifying earlier biomarkers of disease, and working toward more personalized approaches to care.

While many questions remain, individuals and families affected by genetic ALS and FTD have more opportunities than ever before to access information, support, monitoring programs, and research studies.

​Staying informed, connecting with knowledgeable healthcare professionals, and seeking support when needed can help individuals and families navigate this evolving landscape with confidence and hope.

Resources


We developed this webpage in collaboration with Cassandra Haddad, CRNP and ALS Advocate.

ALS RESEARCH GUIDE

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