What is amyotrophic lateral sclerosis (ALS)
Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, is a progressive degenerative brain and spinal cord disorder. ALS affects the voluntary nerves that control swallowing, speech and movement.
There are two types of ALS — sporadic and familial (runs in families). Most cases (85-90 percent) of ALS are sporadic.
ALS is a rare condition that affects approximately two out of every 100,000 people in the United States. There are an estimated 20,000 people living with ALS in the United States now.
Causes of amyotrophic lateral sclerosis (ALS)
The cause of sporadic ALS is unknown.
Risk factors for amyotrophic lateral sclerosis (ALS)
Risk factors for developing ALS include:
- Genetic defect — a mutation on chromosome 21 can increase your chance of developing ALS
- Age — people between 40 and 60 years old are most likely to develop ALS
- Gender — before 65 years old women are more likely to develop ALS
- Tobacco use — women under 65 who are smokers are more likely to develop ALS
- Environmental causes — exposure to lead and other toxins may increase your likelihood of developing ALS later in life
Symptoms of amyotrophic lateral sclerosis (ALS)
Symptoms of ALS typically begin in the hands, feet and limbs and intensify as the disease progresses.
Early signs of ALS may include:
- Trouble speaking or slurred speech
- Difficulty eating or swallowing
- Trouble walking or tripping easily
- Inability to perform daily tasks
- Twitching
- Difficulty breathing
- Muscle weakness or wasting
Diagnosis of amyotrophic lateral sclerosis (ALS)
If your primary care doctor suspects you have ALS, he or she will refer you to a neurologist for diagnosis and treatment.
Because there are no specific tests to diagnose ALS, diagnosis can take months or years as your doctor evaluates the progression of your symptoms. During the diagnosis period, your doctor will monitor the state of your neuromuscular function.
Because ALS symptoms can mimic other conditions, your doctor may order diagnostic testing such as:
- Electromyogram (EMG) - an EMG can evaluate the electrical activity in your brain to determine if you have ALS or another nerve issue that is causing your symptoms.
- Nerve conduction study (NCV) - a nerve conduction study may be done if your doctor suspects nerve damage.
- MRI (magnetic resonance imaging) - an MRI can take images of your brain and spinal cord to determine if you have tumors or other conditions that may be causing your symptoms.
- Blood tests - a blood test can help determine other conditions that have similar symptoms.
- Lumbar puncture - during a lumbar puncture, your doctor will remove spinal fluid from your spinal cord. The fluid will be sent to a lab for evaluation.
- Muscle or nerve biopsy - if your doctor thinks you have muscle dysfunction, you may have a muscle biopsy where some of the muscle is taken and analyzed.
Treatment of amyotrophic lateral sclerosis (ALS)
There is not a cure for ALS, so the goal of treatment is to improve quality of life and slow the progression of the disease. Patients with ALS are treated by a team of Mercy Health doctors and healthcare providers who will work together to develop the most appropriate treatment plan for your case.
There are two medications that are FDA approved to slow the progression of ALS including:
- Riluzole - Riluzole can reduce the progression of ALS but is expensive and not effective in all cases.
- Edaravone (Radicava) - Radicava is a recently approved medication (2017) for ALS that is given over a period of 10 days to 2 weeks via IV.
Other medications used to treat the symptoms of ALS include:
- Baclofen or diazepam are used to control muscle spasms
- Gabapentin is used to manage pain
- Trihexyphenidyl or amitriptyline can help patients who aren’t able to swallow
- Medications for constipation, fatigue, depression and sleep
Therapies that may be necessary include:
- Physical therapy
- Occupational therapy
- Breathing treatments
- Nutritional support or dietary counseling
- Psychological and social support