Many people over the past few years have participated or donated to The Ice Bucket Challenge. Through this fundraiser, people have become more aware of ALS, also known as Lou Gehrig's Disease. We spoke with Oscar Soto, MD, Director of Neuromuscular Division at Tufts Medical Center, to share how ALS it is being treated now and if a cure is in sight.
What does ALS stand for?
ALS stands for ‘amyotrophic lateral sclerosis’. This name was coined by Dr. Charcot in 1874, which alludes to the changes in the spinal cord that occur in this disorder. ALS is caused by degeneration of neurons that produce muscle contraction and movement which are localized both in the cortex of the brain (the upper motor neurons) and in the spinal cord (the lower motor neurons).
What causes ALS?
The cause of sporadic ALS remains unknown. However, in the last 20 years many genes have been identified causing this disorder in familial cases. As consequence of these genetic advances there is much greater understanding of the mechanisms by which the motor neurons are lost in this disorder.
What are early symptoms/signs of ALS?
ALS may present in multiple manners, usually causing difficulty with movements and weakness affecting one of the limbs, but may start affecting the speech or swallowing functions as well. Some patients may exhibit some behavioral or cognitive changes.
What tests are involved in an ALS diagnosis?
ALS is a diagnosis made at the bedside based on typical features. Additional tests are usually needed in order to make the diagnosis firm and to exclude conditions that may mimic ALS. The most commonly used test is the electromyography (EMG), but frequently some blood tests are needed. Brain and/or spinal imaging are frequently used.
Who is most at risk?
ALS may be divided into ‘sporadic ALS’ and ‘familial ALS’. Anyone can get sporadic ALS. It occurs more frequently in the middle age, affecting subjects of both genders in their 50’s, although it can also affect younger people. In general, older people tend to have a higher risk. In familial ALS, those family members carrying mutated genes may be at high risk of developing the disorder.
Is ALS treatable?
Yes, and at the present there are two FDA approved treatments for ALS itself, riluzole and edaravone, and another drug that is used to treat related symptoms. There is a great amount of research and ongoing clinical trials aimed at discovering new treatments.
Has there been any research that could be promising?
ALS is a very active area of research, and this has only increased following the Ice Bucket Challenge a few years ago. Researchers all over the world are actively looking for cures, and to improve ways to screen potential medications in a more effective way. At the present there are multiple ongoing drug trials worldwide and hundreds of scientists working intensively to decipher its ultimate cause and find a cure.
When should you see a physician if you are experiencing these symptoms?
Potential ALS symptoms overlap extensively with symptoms that may have alternative causes. Therefore, whenever there is compromise of limb movement or muscle atrophy and weakness, a dysfunction of speech, trouble swallowing, then a discussion with your primary care physician should take place, who would be able to discern about potential causes and ultimately the need for a neurological referral.