Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis, or ALS, is a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement.
ALS is also known as Lou Gehrig's disease.
Lou Gehrig's disease; ALS; Upper and lower motor neuron disease; Motor neuron disease
1 out of 10 cases of ALS are due to a genetic defect. The cause is unknown in most other cases.
In ALS, motor nerve cells (neurons) waste away or die, and can no longer send messages to muscles. This eventually leads to muscle weakening, twitching, and an inability to move the arms, legs, and body. The condition slowly gets worse. When the muscles in the chest area stop working, it becomes hard or impossible to breathe.
ALS affects approximately 5 out of every 100,000 people worldwide.
Having a family member who has a hereditary form of the disease is a risk factor for ALS. Other risks include military service. Some risk factors are controversial.
Symptoms usually do not develop until after age 50, but they can start in younger people. Persons with ALS have a loss of muscle strength and coordination that eventually gets worse and makes it impossible for them to do routine tasks such as going up steps, getting out of a chair, or swallowing.
Weakness can first affect the arms or legs, or the ability to breathe or swallow. As the disease gets worse, more muscle groups develop problems.
ALS does not affect the senses (sight, smell, taste, hearing, touch). Most patients are able to think normally, although a small number develop dementia, causing problems with memory.
- Difficulty breathing
- Difficulty swallowing -- choking easily, drooling, or gagging
- Head drop due to weakness of the neck muscles
- Muscle cramps
- Muscle stiffness, called spasticity
- Muscle contractions called fasciculations
- Muscle weakness that starts in one body part, such as the arm or hand, and slowly gets worse until it leads to difficulty lifting, climbing stairs, and walking
- Speech problems, such as a slow or abnormal speech pattern (slurring of words)
- Voice changes, hoarseness
- Weight loss
Exams and Tests
The doctor or nurse will examine you and ask questions about your medical history and symptoms.
The physical exam may show:
- Weakness, often beginning in one area
- Muscle tremors, spasms, twitching, or loss of muscle tissue
- Twitching of the tongue (common)
- Abnormal reflexes
- Stiff or clumsy walk
- Decreased or increased reflexes at the joints
- Difficulty controlling crying or laughing (sometimes called emotional incontinence)
- Loss of gag reflex
Tests that may be done include:
- Blood tests to rule out other conditions
- Breathing test to see if lung muscles are affected
- Cervical spine CT or MRI to be sure there is no disease or injury to the neck, which can mimic ALS
- Electromyography to see which nerves or muscles do not work properly
- Genetic testing, if there is a family history of ALS
- Swallowing studies
- Spinal tap (lumbar puncture)
There is no known cure for ALS. A medicine called riluzole helps slow down the symptoms and helps people live slightly longer.
Treatments to control other symptoms include:
- Baclofen or diazepam for spasticity that interferes with daily activities
- Trihexyphenidyl or amitriptyline for people with problems swallowing their own saliva
Physical therapy, rehabilitation, use of braces or a wheelchair, or other measures may be needed to help with muscle function and general health.
Choking is common. Patients may decide to have a tube placed into their stomach for feeding. This is called a gastrostomy.
A nutritionist is very important. Patients with ALS tend to lose weight. The illness itself increases the need for food and calories. At the same time, problems with swallowing make it hard to eat enough.
Breathing devices include machines that are used only at night, and constant mechanical ventilation.
Patients should ask their doctor about medicine for depression if they are feeling sad. They also should discuss their wishes regarding artificial ventilation with their families and doctors.
Emotional support is vital in coping with the disorder, because mental functioning is not affected. Groups such as the ALS Association may be available to help people who are coping with the disorder.
Support for people who are caring for someone with ALS is also available, and may be very helpful.
See: ALS - support group
Over time, people with ALS progressively lose the ability to function and care for themselves. Death often occurs within 3 - 5 years of diagnosis. About 1 in 4 patients survive for more than 5 years after their diagnosis. Some patients live much longer, but they typically need help breathing from a ventilator or other device.
- Breathing in food or fluid (aspiration)
- Loss of ability to care for self
- Lung failure (See: Adult respiratory distress syndrome)
- Pressure sores
- Weight loss
When to Contact a Medical Professional
Call your health care provider if:
- You have symptoms of ALS, particularly if you have a family history of the disorder
- You or someone else has been diagnosed with ALS and symptoms get worse or new symptoms develop
Increased difficulty swallowing, difficulty breathing, and episodes of apnea are symptoms that require immediate attention.
You may want to see a genetic counselor if you have a family history of ALS.
Murray B, Mitsumoto H. Disorders of upper and lower motor neurons. In: Daroff RB, Fenichel GM, Jankovic J, eds. Bradley's Neurology in Clinical Practice. 6th ed. Philadelphia, PA: Elsevier Elsevier; 2012:chap 74.
Shaw PJ. Amyotrophic lateral sclerosis and other motor neuron diseases. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 418.