Amyotrophic lateral sclerosis (ALS) is a rare nervous system disease in which certain cells (neurons) in the brain and spinal cord slowly die. These cells send messages from the brain and spinal cord to voluntary muscles. Mild nerve and muscle problems appear first, but people slowly become more disabled. Some people live with ALS for several years. Eventually breathing muscles stop working. Slightly more men than women get it, usually 40 to 60 years old. There’s no cure. It’s also called Lou Gehrig’s disease, after the famous baseball player who died from ALS.
The cause is usually unknown and about 90% of cases are sporadic. In about 10% of people, it runs in families (inherited). ALS isn’t contagious.
ALS often starts with muscle weakness in an arm or leg, or with slurring of speech. Weakness slowly spreads to both arms and both legs and other parts of the body. Weak spinal and neck muscles lead to head drop. Problems lifting the front part of the foot and toes is foot drop. Some discomfort may occur. Loss of muscle tissue (atrophy) and tongue twitching (fasciculations) are common. Control of muscles needed to move, speak, eat (swallow), and breathe is eventually lost (paralysis). ALS doesn’t affect senses (sight, smell, taste, hearing, touch), but people may have other neurologic problems (such as aphasia, or trouble finding words).
The health care provider may suspect the diagnosis based on the medical history and physical examination, especially of nerves and muscles. The health care provider tests walking, breathing, swallowing, and reflexes. The health care provider may also order electromyography (EMG) and nerve conduction studies. Other studies include genetic testing, computed tomography (CT), magnetic resonance imaging (MRI), blood and urine tests, spinal tap, and muscle biopsy. EMG and nerve conduction studies help measure how well nerves and muscles work. In a biopsy, a small piece of muscle is removed and sent to a laboratory for study. A neurologist may confirm the diagnosis.
Treatment aims to control symptoms and be supportive for as long as possible. One drug is riluzole, which may prolong life and in some people may slow ALS progression, but its effect is limited. Other drugs may help control spastic symptoms, swallowing problems, cramps, constipation, pain, and depression. A stomach tube may be used for feeding if choking occurs. A nutritionist is very important to help prevent weight loss. Education and counseling are also important.
Physical, occupational, and speech therapy can help people stay strong and independent. Assistive devices include braces, walkers, wheelchairs, and breathing machines. In the later stages, the main goal is comfort.
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