The progressive muscle-paralyzing disease that killed esteemed physicist Stephen Hawking has claimed the life of Sandra Bullock’s longtime partner.
Photographer Bryan Randall, 57, privately battled amyotrophic lateral sclerosis (ALS) for three years before succumbing to the disease this week, according to a statement.
The progressive disease, which has a life expectancy of only two to five years, causes muscles to waste away. This leads to fatal paralysis of the whole body.
The Centers for Disease Control and Prevention (CDC) estimates that 31,000 Americans are living with ALS; an average of 5,000 new patients are diagnosed each year. In the UK, the condition is also called motor neuron disease and affects around 5,000 people.
What is ALS?
ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord.
The condition is also known as Lou Gehrig’s disease, after the baseball player who was diagnosed with it.
As motor neurons die, muscles begin to waste away. This causes a loss of muscle control that gets worse over time. Eventually, a patient will not be able to control the muscles needed to move, speak, eat, or breathe.
The cause of ALS is still unknown. According to the ALS Association, about five to ten percent of cases are hereditary, with the remaining 90-95 percent having no genetic link.
Bryan Randall, 57, longtime partner of Sandra Bullock, died this week after a three-year private battle with ALS
Esteemed physicist Stephen Hawking was diagnosed with ALS at the age of 21. He beat the odds by surviving 53 years after diagnosis
What are the symptoms?
ALS usually starts with muscle weakness that gets worse over time.
According to the Mayo Clinic, other symptoms include difficulty walking or performing daily tasks, stumbling or falling, weakness in the legs or feet, hand weakness, slurred speech or difficulty swallowing, random crying or laughing, and thinking or behavior changes.
The condition usually starts in the hands, feet, arms, or legs before spreading to other parts of the body.
In later stages, most of the voluntary muscles are paralyzed and breathing is severely impaired. This poor breathing can cause fatigue, blurred thinking, headaches and susceptibility to pneumonia.
People with ALS usually have no pain.
Who is at risk?
According to the ALS Association, military veterans are more likely to be diagnosed with ALS, but it’s unclear why.
In families with familial ALS, there is a 50 percent chance that each offspring will inherit the gene mutation that allows them to develop the disease.
While symptoms can begin at any age, they usually develop between ages 55 and 75, according to the National Institutes of Health (NIH). The risk increases up to age 75.
Men are also more likely to get the disease than women. After age 70, however, the gender difference disappears.
ALS is most common in white and non-Hispanic adults, although it affects all races.
Some research suggests that smoking and exposure to lead or other environmental toxins may increase the risk of ALS, although the findings are inconclusive.
How is it diagnosed?
ALS can be difficult to diagnose in its early stages, as the symptoms are similar to those of other diseases. However, a patient may have biopsies of their muscles or nerves, as well as blood and urine tests to rule out other causes.
In addition, an MRI scan of the brain and spinal cord can reveal ALS changes.
In some cases, an electromyogram (EMG) may be performed. This is when a needle is inserted through the skin into the muscles to see if there is any damage.
Similarly, doctors can perform a nerve conduction test, which measures the nerves’ ability to send signals to muscles, and can determine if a patient has nerve damage.
How is it treated?
In April, the Food and Drug Administration (FDA) approved the first drug, sold under the brand name Qalsody, for ALS cases with a gene mutation known as SOD1. This is present in about two percent of cases
ALS has no cure and the disease is deadly. It is also unavoidable.
Life expectancy is about two to five years, although some patients may live longer. Hawking, for example, lived more than 50 years after his diagnosis with the condition.
In April, the Food and Drug Administration (FDA) approved the first drug, sold under the brand name Qalsody, for ALS cases with a gene mutation known as SOD1. This is present in about two percent of cases.
The drug is injected into the spinal canal every few weeks.
Qalsody is thought to lower levels of a protein that has been linked to nerve cell damage. However, it does not slow disease progression.
Three other drugs are approved in the US – Riluzole, Edaravone and sodium phenylbutyrate-taurursodiol – although none significantly slow the disease.