Amyotrophic lateral sclerosis (ALS)
You may be familiar with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.
ALS is a rare, progressively debilitating disease that impacts nerve cells in the brain and spinal cord. Motor neurons in the central nervous system that control muscles deteriorate, causing loss of muscle size and strength.
Onset of the disease typically occurs among individuals between the ages of 40 and 70. The average age of diagnosis is 55, but people in their 20s and 30s also have been diagnosed with ALS. It's believed that as many as 30,000 Americans may be diagnosed with the disease.
What are the different types of ALS?
There are two different types of amyotrophic lateral sclerosis:
- Sporadic, the most commonly seen form of the disease in the U.S. This type represents 90 to 95 percent of all cases and can affect anyone, with no family history present.
- Familial, which is inherited, occurs in up to 10 percent of all cases in the U.S. In families carrying the gene linked to ALS, each child has a 50 percent chance of inheriting the gene mutation and may develop the disease.
What are the primary symptoms of ALS?
You may experience:
- Difficulty walking and completing daily activities
- Frequent tripping and falling
- Tight or stiff muscles
- Weakness or clumsiness in your hands
- Muscle weakness in your legs, ankles or feet
- Slurred or distorted speech
- Difficulty swallowing
- Difficulty holding your head up and maintaining good posture
- Muscle cramps and twitching in your tongue, limbs, chest or stomach
How is ALS diagnosed?
There is no specific diagnostic test for diagnosing ALS. Your HonorHealth neurologist will use a variety of tests to eliminate other possible conditions. Tests may include:
- Electromyography nerve conduction study: Your doctor will conduct a test to see how well electrical signals are moving to your nerves and muscles
- Blood and urine tests
- MRI scans
- Genetic tests
ALS risk factors and causes
While there is no known cause of sporadic ALS, researchers continue to study environmental and genetic factors. Familial factors researchers are studying include:
- Mutations in a gene called SOD1 and more than a dozen other genes that have been linked to some cases of familial ALS
- In certain genetic mutations, changes in molecules that may lead to deterioration of motor neurons (nerve cells)
- In other gene mutations, defects in what's called protein recycling, where no-longer-viable proteins are naturally used in the process to build new proteins
- Possible defects in the structure of motor neurons, potentially leading to increased vulnerability to the effects of environmental toxins
Treatment options for ALS
Unfortunately ALS is a devastating diagnosis because it's almost always fatal. Doctors can work with you to help you lessen symptoms and extend your quality of life. Among the options are:
- Rilutek, a drug approved for patient use by the FDA in 1995. The oral drug is believed to disrupt the activity of a chemical that sends signals between nerve cells. This chemical, called glutamate, is often over-produced in people with ALS. Too much of it can be toxic.
- Radicava, the first drug approved for the treatment of ALS in 22 years. Approved by the FDA in 2017, it's administered intravenously. Radicava has been shown to slow the rate of functional decline in some individuals with this disease.
- Muscle relaxants to ease muscle spasms, including baclofen and diazepam
- Medications to reduce pooling of saliva in the mouth caused by difficulty swallowing
- Physical therapy
- Occupational therapy
- Respiratory therapy
- Clinical trials. The HonorHealth Research Institute conducts trials for a variety of neurologic conditions, including ALS.