Jean Swidler, Executive Director for End The Legacy, discusses current challenges facing the amyotrophic lateral sclerosis (ALS) and frontotemporal dementias (FTD) communities.
ALS is a motor neuron disease that leads to problems with muscle control and movement. There are various types of ALS that are distinguished by symptoms and, in some cases, genetic causes. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, slurred speech, and/or difficulty chewing or swallowing. As the disease progresses, people may become weaker and are eventually wheelchair-dependent.
FTDs are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition, apathy and loss of empathy, hyperorality, agitation, compulsive behavior, and various other changes. Some people with FTD also develop motor syndrome such as parkinsonism or motor neuron disease. The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD may not always be identified.
Current Challenges
Research in the ALS community has been a source of hope, especially with a subset of ALS patients with SOD1 mutations recently getting a new therapy, tofersen. However, Ms. Swidler explains how there are still needs that are not being addressed. For example, getting a proper ALS diagnosis is still challenging, even for those who know they are at risk. It is important for this process to be reformed so that patients are diagnosed and treated earlier.
Ms. Swidler also recommends that clinical trials in ALS start sooner in patients with earlier disease progression. Currently, clinical trials in ALS tend to involve patients who are later in their disease stage and outcomes are not as favorable as the community would like to see. By starting trials in less progressed patients, researchers may see more positive outcomes. Additionally, it could be beneficial to monitor and examine patients who are genetically predisposed but are presymptomatic.
To learn more about rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/