Living with Lou Gehrig's disease
8/19/2021 by Denise Dupras, M.D., Ph.D.
A patient recently presented complaining of a variety of symptoms, including muscle cramps, hoarseness, difficulty with swallowing and choking when he eats, and generalized back pain with slowness of his walking. He was 83 and had multiple medical problems, so it was easy enough to attribute his symptoms to medications, known lumbar spine disease, and his age. Extensive testing did not reveal the cause of his symptoms.
Over the next six months, he developed more difficulty with swallowing, hoarseness and generalized weakness, which impaired his walking. When muscle twitches developed in his arms, trunk and tongue at six months, further evaluation confirmed the diagnosis of Lou Gehrig's disease, which is also known as amyotrophic lateral sclerosis, or ALS.
Signs and symptoms of ALS vary from person to person but can include:
- Difficulty walking or performing normal daily activities.
- Tripping and falling.
- Weakness in your legs, feet or ankles.
- Hand weakness or clumsiness.
- Slurred speech.
- Trouble swallowing.
- Muscle cramps or twitching in your arms, shoulders or tongue.
- Inappropriate crying, laughing or yawning.
- Cognitive and behavioral changes.
ALS often starts in the hands, feet or limbs, and then spreads. As the disease progresses, nerve cells are destroyed, and people with ALS become weaker. Pain is not usually a symptom of ALS, whether early or in later stages.
What causes ALS?
Established risk factors for ALS include:
Of people with ALS, 5%–10% inherited it. The children of people with inherited, or familial, ALS have a 50-50 chance of developing the disease.
Risk increases with age, but ALS occurs most common between the ages of 40 and the mid-60s.
Slightly more men than women are diagnosed with ALS before age 65. The sex difference disappears after age 70.
Genetic variations might make people more susceptible to ALS, even in patients without the familial ALS.
Environmental factors that might trigger ALS include:
Smoking is the only likely environmental risk factor. The risk seems to be greatest for women, particularly after menopause.
- Environmental toxin exposure
Some evidence suggests that exposure to lead or other substances might be linked to ALS. At this time, no single agent or chemical has consistently been associated.
- Military service
While studies indicate that military personnel are at higher risk, it is unclear what the specific trigger is.
Is there a treatment or cure for ALS?
While ALS cannot be cured, some treatments can slow its progression, prevent complications and treat symptoms to allow people to live more comfortably and independently.
When should you be seen?
If you are concerned that you're developing symptoms of ALS or a family member is developing symptoms, contact your primary care provider. Your provider will review your family medical history, and your signs and symptoms, and work with you to get you the care you need.
Denise Dupras, M.D., Ph.D., is a physician in the Division of Community Internal Medicine at Mayo Clinic in Rochester, Minnesota. She completed her medical and doctoral degrees at Mayo Clinic Alix School of Medicine, and her residency in internal medicine at Mayo Clinic. Her interests include medical education and evidence-based medicine.