Tips & Advice – Navigating FTD-ALS

May 23, 2025
hh Navigating FTD-ALS
In 2011, researchers discovered that variants of the C9orf72 gene are the most common cause of both genetic FTD and amyotrophic lateral sclerosis (ALS). Nevertheless, it is important to recognize the genetic overlap between FTD and ALS extends beyond C9orf72. There are several other genes that can cause FTD, ALS, or both, as well as a shared underlying pathology driven by dysfunction of the protein TDP-43. The prospect of facing both motor neuron-related and behavioral symptoms is daunting for families. However, researchers and clinicians are working tirelessly to better understand FTD-ALS spectrum disorders and how to best support those living with them.

Understanding the Genetic Risks of FTD-ALS

A diagnosis of either FTD or ALS does not necessarily mean that both disorders will develop. However, when FTD and ALS occur in the same family, there is likely a genetic cause, though even in families with the same gene, different symptoms can be expressed. While C9orf72 is the most common genetic cause for FTD-ALS, additional genes are likely undiscovered.

A Venn diagram showing genes associated with FTD, ALS, or both. | FTD: GRN and MAPT | Both: c9orf72, CCNF, CHMP2b, CHCHD10, FUS, OPTN, SQSTM1, TARDBP, TBK1, TIA1, UBQLN2, VCP | ALS: ALS2, ANG, HNRNPA 1, NEK1, PFN1, SOD1

In some instances, family history may not be a reliable means of determining one’s risk for FTD and/or ALS. Genetic testing can help families determine if other relatives may be at risk; however, the results carry a significant emotional burden and can impact your options for insurance and employment. The Genetic Information Nondiscrimination Act (GINA) of 2009 provides some protections, but there are notable exceptions that a genetic counselor can help you understand.

Tackling FTD-ALS: From Diagnosis to Symptom Management

Diagnosing FTD-ALS can be difficult due to symptoms that overlapping with related disorders. Persons with FTD-ALS can demonstrate symptoms of one of the FTD disorders before symptoms of ALS, though there is still a chance that ALS symptoms can develop first. Additionally, communication symptoms found in primary progressive aphasia can develop in people with ALS. Some of those with ALS who develop cognitive/behavioral symptoms will not meet the criteria for an FTD diagnosis.

The table below shares symptoms that families should keep an eye out for if a loved one has been diagnosed with ALS or FTD:

If FTD Symptoms Come First If ALS Symptoms Come First
Worsening of strength of speech at the end of day. Uncharacteristic changes in behavior; can include rude comments, impulsivity, or unusual aggression
Weakness in legs leading to falls, difficulty lifting arms, clumsiness with hands or fingers. Unexplained apathy: loss of interest in work, hobbies, and relationships
Periodic uncontrolled muscle spasms or twitching. Difficulty with problem solving, planning activities, and other planning-related tasks
Difficulty speaking, swallowing, or “heavy tongue” feeling. Difficulties with language, such as using the wrong words, recalling the meanings of words, or challenges with long sentences
If you suspect that you or a loved one with FTD is developing symptoms consistent with ALS, or vice versa, AFTD’s FTD-ALS Diagnostic Checklist can help you identify and keep track of those symptoms so you can discuss them with your doctor. Note that this checklist is not a substitute for a diagnosis by a medical practitioner. Additionally, if your doctor has questions, AFTD’s FTD-ALS fact sheet concisely describes the disorder and its genetic risks.

There is currently no cure for FTD or ALS, with treatment presently focused on addressing symptoms and providing a high quality of life for diagnosed people. Drugs such as riuzole or tofersen have been approved to treat some ALS symptoms, and drugs for other disorders can sometimes be prescribed to relieve some symptoms of FTD and ALS.

Developing a regular routine that involves mental and physical stimuli can help manage symptoms. A predictable schedule makes it easier for people with FTD-ALS to manage their symptoms. For example, meals could be served at the same time each day with the same verbal or nonverbal cues, and household tasks can be relegated to specific parts of the day or week. As FTD and ALS symptoms progress, you will need to adapt activities that account for any new limitations.

Managing FTD-ALS is exhausting. Persons diagnosed and their care partners will need additional support as they navigate a diagnosis. AFTD’s Comstock Grant program can provide access to much-needed support: Quality of Life Grants can be used by persons diagnosed to access support services, while Respite Grants enable care partners to take a break to attend to their self-care needs.

You don’t have to navigate FTD-ALS alone; AFTD’s HelpLine can answer any questions and connect you with information and resources. Contact the HelpLine at 1-866-507-7222 or info@theaftd.org.

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