Amyotrophic lateral sclerosis (ALS) is a progressive nervous system disorder that steadily worsens over time. It affects the nerve cells (neurons) in the body that control voluntary muscle movements like walking, breathing, and talking. The motor neurons that connect the brain and spinal cord to the rest of the body begin to degenerate and eventually stop sending signals to the muscles1. Over time, the muscles become weak and begin to shrink. The nerves also gradually die, ultimately leading to almost total paralysis and impacting the ability to breathe. ALS is a fatal condition, often the result of respiratory failure.
ALS afflicts about 2 in every 100,000 people, approximately 450,000 worldwide at any given time. Well-known individuals who have been diagnosed with ALS include theoretical physicist Stephen Hawking, Yankees baseball legend Lou Gehrig, and Sesame Street creator Jon Stone2. ALS affects nerves in the brain and spine that are responsible for muscle movement. In the Greek language, “a” means no, “myo” means muscle, and “trophic” means nourishment; thus, the term amyotrophic literally translates to “no muscle nourishment”.
In the United States, ALS is sometimes called Lou Gehrig’s disease. In the United Kingdom and other parts of the world, it is known as motor neurone disease, referring to the cells that are lost with the disease.
Causes of ALS
The cause of ALS is unknown, but it is thought that genetics may play some role.
Symptoms of ALS
The symptoms of ALS are a result of dying nerves. The condition usually begins with weakness in the hands or feet, and then spreads to the rest of the body. The first signs of ALS are subtle and can be different from person to person, but can include:
- Changes in how you speak
- Frequent tripping while walking or general clumsiness
- Trouble with fine motor tasks like grasping a pen
Affected muscles become spastic, meaning that they tighten and spasm, and ultimately become ineffective. As the weakness spreads, once simple acts like speaking, breathing, and swallowing become more difficult.
The speed of ALS’s progression also can be very different between people. As the disease advances it can lead to some or all of the following symptoms:
- Progressive weakness in arms and legs
- Wrist or foot drop
- Difficulty holding things
- Muscle twitching—fasciculations
- Unpredictable and changing emotions—pseudobulbar affect
- Slurred speech—dysarthria
- Hoarseness and coughing
- Trouble chewing and swallowing, resulting in frequent choking and gagging
- Weight loss due to trouble eating
- Trouble breathing
- Excess salivation, drooling
Risk Factors for ALS
ALS does not discriminate along racial, socioeconomic, or ethnic lines. Anyone can be affected, but factors that may increase your chance of developing ALS include:
- Family History
Certain genetic mutations are believed to run in families and may increase the risk of developing ALS. About 10% of ALS cases are familial (FALS). The other 90% are known as sporadic ALS cases, when the diagnosed individual is the only person in their family with the disease. A genetic counselor can be helpful in determining if genetic testing is warranted.
Most people with ALS are diagnosed between the ages 40 and 70, although the disease can occur earlier in life.
ALS occurs 20% more often in men than women.
- Being a Military Veteran
For reasons not completely understood, military veterans have twice the risk of developing ALS as the general population.
There are no medical tests that specifically diagnose ALS, but tests can be done to rule out other medical conditions. You will be asked about your symptoms and medical history, and a physical exam will be done. A neurological exam to assess your thinking and processing skills also may be performed, as well as imaging tests to look for changes in the brain or spine. These imaging tests may be done with a:
- Magnetic Resonance Imaging (MRI) scan
- CT scan
Other testing may involve:
- Blood tests—to look for infections or metabolic change
- Lumbar puncture (spinal tap)—to look for changes in the fluid that surrounds the brain and spinal cord
- Biopsy of muscles and/or nerves—to evaluate tissue under a microscope
- Electromyogram(EMG)/nerve conduction velocities (NCV)—to check muscle and nerve activity
ALS is not contagious and, while there is no cure, a combination of treatments can help to reduce or manage its symptoms. With proper treatment, half of all people with ALS live 3 or more years after diagnosis; 20% live 5 years or more; up to 10% live more than ten years2. For reasons that are unclear, some individuals like Stephen Hawking live much longer. Treatments for ALS include:
Drugs, like riluzole and edaravone, are approved by the U.S. Food and Drug Administration to treat ALS and can help reduce muscle spasms and cramping. These may slightly improve functioning, but cannot stop the disease from progressing. Eventually, most individuals with advanced ALS must be fed through a tube and sustained on a ventilator.
Other medications may include:
- Muscle relaxants to help muscles that are in spasm
- Nonsteroidal anti-inflammatory drugs (NSAIDs) and other pain medications
- Medication to reduce heavy drooling
- Antidepressants and anti-anxiety drugs
- Medication to treat inappropriate laughter or crying
Other Types of Treatments
Supportive care may be needed as ALS progresses, including:
- Physical Therapy
Physical therapy helps muscles maintain strength and flexibility, and reduces pain associated with muscle cramping and spasticity.
- Respiratory Care
In some cases, extra oxygen or a machine to help with breathing is needed. Surgery eventually will be needed to make an artificial airway that bypasses the throat.
- Nutritional Care
The ability to swallow will be lost over time. Nutrition will then need to be delivered through a feeding tube.
- Speech Therapy
Speech therapy may help improve communication. Therapy includes working to maintain speech, as well as finding other ways to communicate when speech is no longer possible.
- Support System
Seeking mental health counseling and joining a support group can be helpful both for people diagnosed with ALS and for their caregivers. The ALS Association® provides several resources for local programs, services, and support groups.
There are no current guidelines to prevent ALS because the cause is unknown.
For more information regarding ALS, or other neurological symptoms and disorders, please contact
Dr. Claudia Martin of LewisGale Physicians Salem Neurosurgery at (540) 772-3830.
1National Institutes of Neurological Disorders and Strokes: www.ninds.nih.gov
2ALS Association®: www.alsa.org
3Muscular Dystrophy Association®: www.mda.org