When you move, speak, breathe or swallow, motor neurons send messages from your brain down into the spinal cord and out to your muscles. For people with the neurodegenerative disorder amyotrophic lateral sclerosis, or ALS, these messages become compromised. The motor neurons weaken and die, affecting a person’s ability to control their movement and use those muscles.
Each year, approximately 5,000 people in the United States are diagnosed with ALS.
You may have heard the condition referred to as Lou Gehrig’s disease, after the famed baseball player who died from complications of the disease in 1941. Or, more recently, you might remember the Ice Bucket Challenge fundraiser, which went viral on social media in 2014 and raised more than $100 million for ALS research.
But despite those high-profile examples, “people don’t see ALS because the disability associated with the disease keeps people at home,” says Jorge L. Almodóvar-Suárez, MD, a UNC Health neurologist and director of the UNC ALS Clinic.
Dr. Almodóvar-Suárez explains the symptoms of ALS, how they progress and the therapies currently available.
Symptoms of ALS
The symptoms of ALS usually appear gradually. They tend to start with twitching of muscles in the face or limbs, then those muscles become more noticeably impaired.
“With limb onset, a person will have weakness in their arms or legs; they may have trouble walking and moving or experience falls,” Dr. Almodóvar-Suárez says. “Bulbar onset presents with trouble in speech or swallowing.”
These symptoms progress as the motor neurons eventually die. Without these neurons, the brain can no longer communicate with the muscles, and people lose the ability to move their limbs, eat, speak, swallow and breathe.
Causes of ALS
For most people with ALS, the origin of the disease remains a mystery.
“For 10 percent of people with ALS, there is a familial or genetic connection,” Dr. Almodóvar-Suárez says. “In 90 percent of the cases, the cause is unknown.”
It’s possible that some combination of genetic and environmental factors is involved in causing ALS. Some people may carry a genetic mutation that causes the condition. Dr. Almodóvar-Suárez says there may also be a connection with physical trauma or exposure to pesticides, as people who served in the military, played professional football or worked with environmental toxins have higher rates of diagnosis of ALS.
“It’s not that you experience a physical trauma and develop ALS immediately as a result,” he says. “It’s something we see in the person’s history that might be a predisposition.”
Symptoms usually develop between 55 and 75 years of age.
Diagnosing ALS
People with ALS often have to wait several months for a diagnosis because there’s no single test that can diagnose the disease. A person may have multiple tests during a clinical workup, including imaging of the brain and spine, genetic testing and an electromyogram (EMG), which evaluates the function of nerves.
It’s important to find a neurologist who is familiar with ALS so they can assess the symptoms.
“We’ll perform a full physical exam and evaluate swallowing function and how the activities of daily living, such as writing or moving, are affected,” Dr. Almodóvar-Suárez says.
ALS is a devastating diagnosis. While some people live for longer or shorter, the typical time between diagnosis and death is two to four years.
“When we give someone that news, we have to give some time for it to sink in,” Dr. Almodóvar-Suárez says. “Then we can start talking about all of the things available that can improve quantity and quality of life.”
Treatments and Therapies for ALS
While research is ongoing, there is not yet a cure for ALS.
“We don’t have many medications for ALS,” Dr. Almodóvar-Suárez says. “Riluzole, which has been available since the ‘90s, improves the prognosis for three to six months. Other medications that have come on the market have not been shown to be as effective.”
Another drug, tofersen, is available to people with a specific genetic mutation.
Still, Dr. Almodóvar-Suárez remains hopeful that other medications that provide symptom relief or that slow the progression of the disease will be found. The UNC ALS Clinic is a member of the Northeast Amyotrophic Lateral Sclerosis Consortium (NEALS), which works to accelerate research and testing of new treatments so they can be brought to the market quickly.
In the meantime, Dr. Almodóvar-Suárez says that multidisciplinary ALS clinics offer the most improvement in quality of life to people with the disorder. At multidisciplinary clinics, physicians, advanced practice providers, physical therapists, occupational therapists, speech therapists, respiratory therapists, nutritionists and social workers provide care that prolongs normal functioning and addresses the common complications of ALS.
For example, speech therapists can help you speak for as long as possible; when speech becomes more difficult, they can introduce assistive communication devices. As the ability to walk is affected, physical and occupational therapists can help with fall prevention or with using adaptive equipment, such as braces or wheelchairs. Many clinics offer telemedicine options for patients who have difficulty leaving home.
As ALS progresses, the team will focus on breathing and nutritional support.
“It’s essential to maintain respiratory status and prevent choking,” Dr. Almodóvar-Suárez says. “A person may have a noninvasive ventilation mask to breathe more comfortably. To prevent choking, there may be changes in the way a person eats and what they eat. They may need a feeding tube. We work to maintain their weight and nutrition.”
A multidisciplinary clinic can also provide information about palliative care and ways to support caregivers and other family members.
“We get the caregiver involved with support because it’s a tough road,” Dr. Almodóvar-Suárez says. “ALS is a family disease, because it affects the patient and everyone around them.”
If you have questions about your health, talk to your doctor. If you need a doctor, find one near you.