Understanding and Managing ALS (Amyotrophic Lateral Sclerosis)

ALS can be difficult to diagnose early. Symptoms can be minor and nonspecific, and the onset of the disease can be gradual and vary significantly from one person to the next. The most common initial symptom of ALS is a gradual onset of progressive muscle weakness that is generally painless. Early diagnosis is essential for disease progression as there are few drugs approved to treat ALS, and they are more effective in the early stages of the disease.

ALS is the most common motor neuron disease. Between 90% to 95% of cases are sporadic, and the lifetime risk of developing ALS is 1 in 350 for men and 1 in 400 for women. Researchers have not identified a single, precise cause for ALS, but they have identified possible factors that may contribute to it. These include genetic mutations, neuroinflammation, and oxidative stress. Risk factors for developing this condition include military jobs, smoking, sports with a high incidence of concussion, and exposure to heavy metals, electromagnetic fields, pesticides, or neurotoxins.

The earliest symptoms of ALS are nonspecific. Some people may develop weakness in one limb that slowly progresses over a few weeks. Weeks later, weakness will develop in another limb. For others, the first symptoms may be trouble swallowing or speaking clearly. Other common symptoms that occur early in the disease progression include the following:

• Dropping things
• Tripping
• Falling
• Slurred speech
• Abnormal fatigue in the limbs
• Uncontrollable crying or laughing

In time, symptoms will progress from minor muscle issues, like cramping and twitching, to more significant muscle weakness and atrophy. People with ALS may have many symptoms as the disease progresses. They may have trouble speaking or forming words, and they may drool. Eventually, people with ALS will have problems chewing food and swallowing, which can lead to difficulties maintaining weight and getting necessary nutrients. Eventually, they will not be able to stand, walk, use their arms and legs, or breathe independently.

How ALS affects speech will vary from person to person, but almost all people with the condition experience a motor speech disorder as the disease progresses. The earliest speech changes may be a slower speaking rate, slurring, or a change in voice quality. People with ALS may use short phrases and require effortful, slow speech. They may speak more quietly with long pauses and a decreased pitch.

These changes occur for multiple reasons. They may have trouble with paralysis, weakness, or incoordination. Difficulty breathing will also make it more challenging to speak. People with ALS may start speaking less or use shorter sentences because speaking can become tiring, especially at the end of the day.

Some people with ALS will experience pseudobulbar affect, which are unintended or uncontrollable emotional displays, like laughing or crying. The pseudobulbar effect is caused by damage to the brain and is more common in those with bulbar onset ALS. This type of ALS mainly affects the neurons in the bulbar region of the brainstem, which controls the facial and neck muscles and processes like swallowing and speech. This part of the brain contains the brain's breathing center. As the disease progresses, breathing problems worsen. The respiratory muscles weaken, and the person becomes unable to breathe independently. It also becomes more difficult for them to cough and expel phlegm to clear the airway.

As the disease progresses, mobility issues worsen. The person will have trouble walking due to leg weakness, which can lead to falls. Eventually, they will require an assistive device, like a walker or a wheelchair. Daily activities will become difficult, like getting in and out of bed, showing, toileting, and preparing and eating food. Swallowing and eating difficulties can present particular challenges, particularly as choking can lead to aspiration pneumonia. Aspiration pneumonia is one of the most common causes of death for people with ALS.

Dropped head syndrome is caused by neck weakness. It usually occurs within the first one to two years after the onset of ALS. Treatment of dropped head syndrome in ALS is typically a cervical collar to hold the head up, improving posture, making it easier to perform daily tasks, and supporting socialization. Multiple therapies may help support the person as symptoms progress through hands-on treatment and providing adaptive aids:

• Physical therapy may help improve mobility and movement.
• Speech therapy can help support speech clarity and alternate communication methods.
• Occupational therapy can help with grooming, bathing, and getting dressed

Getting an accurate diagnosis as soon as possible is essential, as available ALS treatments are more effective when started early. There is no single test that can definitively diagnose ALS. The doctor will review the person's medical history and complete a full physical and neurological exam, which assesses reflexes and muscle strength. Some tests may be performed to rule out other conditions. Providers may perform an electromyography to test how well the muscles and nerves are functioning. This test can include a nerve conduction study, which measures electrical activity in the nerves and muscles, or a needle exam, which records electric activity in the muscle fibers. An MRI of the brain and spinal cord can rule out other diagnoses, as can blood and urine tests and muscle biopsies.

As respiratory function continues to decline, people with ALS will require advanced care and respiratory support. When respiratory decline first starts to occur, someone with ALS may use non-invasive positive pressure ventilation, a machine that uses a mask that fits over the nose and mouth to apply pressure to fill the lungs with air. Some people only need this type of ventilation at night initially but will need to use it during the day once symptoms start to progress. Someone with this condition may also use a cough assist machine, which helps facilitate coughing by delivering a deep breath of air to the lungs followed by negative pressure to simulate a cough.

A tracheostomy may be necessary for some people to support late-stage breathing difficulties. This is a procedure that creates an opening in the windpipe. A small plastic tube is inserted so that air can bypass the nose and mouth and pass directly into the windpipe and lungs. A ventilator can be attached to the trach to assist further. For people who have trouble eating, chewing, or swallowing, a feeding tube may be inserted into the stomach to ensure adequate nutrition.

ALS is a progressive disease and does not have a cure, so interventions mainly focus on functionality, autonomy, and improving quality of life. People with this condition may =visit an ALS clinic every two to three months. At clinic visits, the person's healthcare team will monitor symptoms and, as they progress, help them organize the support and additional care they need. They can make referrals and recommendations for therapists and help order equipment like cough assist machines and non-invasive ventilators when needed. People with ALS can live independently by making lifestyle modifications until their symptoms require increased care. For example, they may need to wear adaptive clothing that does not have zippers or buttons, use self-care products with flip-top lids that are easier to open, or use a transfer board to move from their wheelchair to the bed, toilet, or shower.

Key takeaways

ALS is a progressive neurological disorder that affects motor neurons. Over time, people with ALS lose the ability to perform voluntary movements and breathe on their own. While there is no cure for ALS, medications are available that can slow the progression of the disease. These medications are more effective when taken early, so early disease identification is critical. Current research focuses on understanding why some people get ALS to help doctors figure out how to prevent it as well as slow or stop the progression of the disease, reverse the damage caused by the disease, and use assistive technologies to help those with ALS improve their quality of life.