In this blog, we're exploring whether ALS can be caught early, including the tests that may be used in order to diagnose ALS, and if there are any measures that can be put in place to stop it early.
Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disorder that affects motor neurons.
What are motor neurons?
Motor neurons are the nerve cells responsible for controlling voluntary muscle movements. They transmit signals from the brain and spinal cord to muscles throughout the body.
For example, if you are on a walk, your motor neurons are consistently sending signals to your leg muscles to (quite literally) put one foot in front of the other!
For those with ALS, motor neurons can weaken or waste away, eventually hindering voluntary movements like smiling, talking, walking, and lifting objects.
The majority of ALS cases are sporadic, meaning they occur without a clear family history. The most commonly mutated genes in sporadic ALS are C9ORF72 and SOD1. These genes also are often mutated in familial ALS, along with a number of other rare gene mutations.
In this article, we will explore if ALS can be diagnosed early and, if so, how that impacts treatment for those with the disease.
How early can ALS be detected?
Early diagnosis of ALS can be challenging due to its gradual onset and lack of definitive diagnostic tests. Symptoms typically manifest subtly and the initial signs may mimic other conditions that affect motor neurons, such as Lyme Disease, Peripheral Neuropathies, and more.
The best way to detect ALS early is to monitor for symptom onset.
Most people develop ALS between the ages of 40 and 70. If you notice any symptoms (outlined below), be sure to notify your doctor as soon as possible. On average, it takes 9 - 12 months for someone to be diagnosed with ALS. The quicker one reports their symptoms, the quicker they can be diagnosed and treated appropriately.
In order to diagnose ALS, health professionals will conduct a thorough medical evaluation of the patient’s medical history, and symptoms, and perform specialised tests.
What specialised tests are used to diagnose ALS?
- Electromyography (EMG): An EMG involves inserting thin needles into various muscles to record the electrical activity of motor neurons and the muscles they control. Abnormal patterns of electrical activity can suggest damage to motor neurons.
- Nerve Conduction Studies (NCS): Often performed alongside EMG, NCS involve sending small electrical impulses through the nerves to measure how quickly the signals travel. Abnormalities in nerve conduction can help differentiate between ALS and other neuromuscular disorders.
- Clinical Neurological Examination: A thorough physical examination by a neurologist is fundamental in the diagnostic process for ALS.
Can ALS be stopped if caught early?
There is currently no cure for ALS, but early detection can significantly impact a patient's quality of life. Identifying ALS in its early stages allows for timely intervention, enabling patients to receive supportive care, access to specialised therapies, and participation in clinical trials. This can help manage symptoms, slow down disease progression, and enhance overall well-being.
Can you have ALS for years and not know it?
Yes, it is possible to have ALS for years without realising it.
ALS is characterised by a wide spectrum of symptoms, and some individuals may experience subtle symptoms that go unnoticed or are attributed to other causes. This phenomenon is known as "clinical latency." In order to avoid clinical latency, it is important to report all symptoms, big and small, to your healthcare provider.
What are the first warning signs of ALS?
ALS can present gradually and subtly, with a wide array of potential symptoms. As a general rule, it is wise to be alert for the following warning signs of ALS:
- Muscle weakness, particularly in the hands and arms
- Fasciculations (otherwise known as muscle twitching and/or cramps)
- Abnormal falls, tripping, or stumbling
- Difficulty speaking or eating
- Unexplained fatigue and exhaustion
Conclusion
Scientists are tirelessly working to understand and treat ALS. Ongoing research and clinical trials hold promise for the development of innovative treatments that may one day provide a cure. In the meantime, we can do our best to enhance the quality of life for those with ALS through early detection and treatment.
