Stephen Hawking and ALS: A Closer Look at Lou Gehrig's Disease

For five decades, scientist Stephen Hawking was confined to a wheelchair with ALS, a neurological disease that strips away a persons ability to move, swallow and breathe independently. Remarkably, a diagnosis of rare early-onset ALS at age 21 didn't stop Hawking from writing some of the most important scientific theory of the 20th century.

Hawking's longevity was rare for ALS, which typically has an average life expectancy of 35 years after diagnosis. With such a devastating prognosis, ALS can be extremely challenging for both patients and family members to come to terms with. Heres what you need to know about ALS.

What is ALS?

ALS, which stands for amyotrophic lateral sclerosis, is a degenerative motor neuron disease that affects nerve cells in the brain and spinal cord. With a gradual progression, patients eventually lose their ability to move and communicate.

Over the years, ALS has come to be known as Lou Gehrig's disease after the famous New York Yankees baseball player. Gehrig was diagnosed with ALS after he began struggling with simple tasks and making mistakes on the field. Thanks to his celebrity status at the time, Gehrig greatly helped raise public awareness of ALS.

What is a motor neuron disease?

ALS is just one of a group of motor neuron diseases which destroy neurons the cells in charge of controlling essential voluntary muscle activity such as walking, speaking, breathing and swallowing.

There are two systems for motor control in the body upper motor neurons, which are located in the brain, and lower motor neurons, which are located in the brainstem or spinal cord, explains Dr. Ki Hyeong Lee, a neurology specialist at AdventHealth. ALS is the most common of the motor neuron diseases and, because it involves both systems, generally the most devastating.

Other diseases in this group include PLS (primary lateral sclerosis), which predominantly affects upper motor neurons, and PMA (progressive muscular atrophy), which involves the lower motor neurons.

What are the symptoms of ALS?

• At the onset, ALS symptoms may be vague and easily confused with those of other conditions. Early symptoms typically include:
• Cramps, twitching or stiff muscles
• Leg or arm weakness, causing stumbling or awkward movement
• Slurred speech
• Problems swallowing or chewing
• Difficulty with simple tasks such as writing, holding a cup or buttoning a shirt

ALS often begins in one limb before spreading to other parts of the body. Over time, the patient loses the ability to stand, walk and swallow, which usually requires the assistance of a wheelchair, respiratory and feeding devices.

Who gets ALS?

Around 20,000 Americans are estimated to have ALS at any given time, with approximately 6,000 new cases each year. The disease is about 20% more common in men than in women, but after about age 65 it affects both genders equally.

The average age to be diagnosed is 55, but it's not unheard of for someone in their twenties or thirties to develop ALS (Hawking was 21 when he was diagnosed). People who are diagnosed very young usually face a much slower deterioration which may explain how Hawking was able to survive for five decades with the disease.

Research has shown that ALS is twice as common in military veterans (particularly those who served during the Gulf War) but more studies are needed to understand precisely why.

Is ALS hereditary?

In about 90 percent of cases, no. These cases are referred to as sporadic ALS.
In sporadic ALS, only one member of the family has the disease, explains Dr. Lee. Their children typically don't have to worry about getting ALS.

The remaining 10 percent of cases are known as familial ALS, which scientists speculate is related to inherited genetic mutations.

What causes ALS?

The causes of ALS are not fully understood, but research points to a combination of genetic mutations, neurotransmitter imbalance, autoimmune factors and environmental agents.
New research around two possible causes excessive glutamate exposure and oxidation have led to the FDA approval of two new drugs. Riluzole has been proven to delay the progression of ALS by 20%, and a newer drug, Edaravone, has shown a 30% improvement. ALS is probably not caused by a single gene defect, but rather multiple factors; there may not be a cure, but you can slow it down, says Dr. Lee.

What is the prognosis?

Most of the time, patients with ALS are expected to live just a few years after their diagnosis, but some live much longer.

Typically we say 50% of people with ALS pass away within 35 years, says Dr. Lee. Around 20% may live between 5 and 10 years, and the other 30% could be even longer.

What happens after someone is first diagnosed with ALS?

According to Dr. Lee, the first step after being told you have ALS should be to seek a second opinion from a specialist to confirm your diagnosis. There are several afflictions that mimic ALS, ranging from HTLV to something as simple as a vitamin B12 deficiency.

I've had patients diagnosed with ALS by a general neurologist that, after a very comprehensive workup, turned out to have spinal cord compressions, says Dr. Lee. A comprehensive evaluation, including an MRI of the brain and spine, can rule out other treatable causes.

How is ALS treated?

No treatments currently exist that can cure ALS, and treatments largely focus on managing symptoms and improving comfort. However, the two FDA-approved medicines mentioned above can significantly delay the onset of symptoms.

Physical therapy and speech therapy can help patients adapt to new ways of moving and communicating. Maintaining good nutrition is also vital, as is pulmonary function testing and swallowing studies to ensure patients are able to breathe and swallow without support.

Importantly, mental health care is also encouraged to help patients cope with their diagnosis. The burden of ALS isn't just physical, it's emotional and financial, particularly for caregivers, says Dr. Lee. Emotional support is a very important aspect of coping with this disease.

What is the ultimate goal in treating a patient with ALS?

After confirming an initial ALS diagnosis, Dr. Lee and his team place a special emphasis on patient education. It's very important for patients and their family to understand the course of this disease, and what to expect, he says.

The third goal in treating ALS patients is to encourage them never to lose hope. No diagnosis is a done deal, says Dr. Lee. Medicine is changing almost every day, and you never know when there may be a groundbreaking new treatment or clinical trial. For these reasons, it's vital to keep in close contact with an expert in the field.
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We know that ALS can be a complex disease to diagnose, treat and manage, but AdventHealth's multidisciplinary neurological team is here to offer comfort, expertise and support. If you or a family member suspects ALS, or has symptoms such as muscle stiffness or weakness, slurred speech and decreased coordination, schedule a consultation with us today at Call855-303-DOCS.