What Is Lou Gehrig’s Disease (ALS)? 10 Things You Should Know

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that affects nerve cells in the spinal cord, brain, and brain stem. A motor neuron disease, it is also known as Lou Gehrig’s disease, after the famous baseball player who died of the ailment in 1941. Here’s an overview of the condition to help you understand and manage it better.

1. ALS Affects Motor Neurons And Impairs Muscle Function

Motor neurons are cells in the brain and spinal cord that regulate our body’s basic voluntary muscle activities, be it walking, breathing, swallowing, or talking. These get eroded in ALS. As the disease advances, the affected nerve cells die and stop communicating with the connected muscles. These muscles, in turn, stop functioning normally and slowly weaken and waste away. Patients in advanced stages of the disease may even become completely paralyzed.^{1 2}

2. Only 10% Of ALS Is Linked To Family History

ALS is not an inherited disease in most cases. In fact, just 10% of cases have been found to be familial ALS (FALS), where over one person in the family has ALS. A family history of frontotemporal dementia has also been linked to FALS. Studies suggest that gene mutations are the likely cause of FALS, with autosomal dominant being the most common pattern of inheritance. This means that a parent who has the mutated gene has a 50 percent chance of passing that gene to all their children. In such families, there is an increased chance that someone in each generation is affected by ALS and/or dementia.³

On the other hand, 90% of ALS cases are instances of “sporadic ALS” where the person is the only one in a family with the disease. The causes for sporadic ALS are yet not clear, but it is speculated that a combination of environmental and genetic risk factors is at play here. People with FALS often start showing symptoms at earlier ages than people with sporadic ALS.

3. ALS Is More Common In The 40+ Age Group

ALS rarely affects people under 40 but after that, there is an exponential risk of developing the disease. The typical age range when patients show symptoms of FALS is between 40 and 60 years. In case of sporadic ALS, this age range is higher at 58–63 years.

However, this does not mean that individuals under 40 or the elderly above 60 cannot develop ALS. In fact, in a few rare cases, ALS has been known to affect young adults in their 20s too. Also, the largest number of patients with ALS are between 70 and 79 years of age. These figures only add to the many puzzles surrounding this progressive disease.⁴

4. Men Are 20% More Likely To Develop ALS

Men seem to be over 20% more likely to get ALS than women, especially in younger age ranges. But with increasing age, ALS tends to affect both men and women equally.⁵ While the exact causes of this are not clear, some researchers speculate that some factors may play a role – for instance, men may be more exposed to more environmental toxins than women and the biological responses to these may also be different. Similarly, gender-based variations in the nervous systems and how the bodies repair any damage may also be deciding factors.⁶

5. Lifestyle, Diet, Fitness Levels Are Other Risk Factors

So far, scientists have no definite answers as to what triggers ALS. While age, sex, and genetic causes are established risk factors, studies indicate some other potential risk factors:⁷

• Smoking: A lifestyle-related risk factor for ALS. Interestingly, women, especially those in their post-menopause phase of life, may be more vulnerable. Male smokers, according to studies, were not similarly affected.
• Extreme physical activities: ALS patients are, ironically, physically fitter and have a lower body mass index (BMI) than the average Joe. A few small studies indicate that sports requiring extremely high levels of physical fitness like football may pose a higher risk for ALS among professional (but not recreational) players.
• Exposure to harmful chemicals: People in occupations that involve exposure to harmful chemicals, such as carpenters, painters, hairdressers, vets, welders, and construction workers, may especially be at a higher risk. Incidentally, military veterans of the United States have been found to be at double the risk of developing ALS compared to the non-military population. In fact, ALS is listed as a service-related disease by the U.S. Department of Veterans Affairs. In spite of continuous studies, no definite cause has been identified for this development. It is speculated that exposure to toxins such as lead, physical or psychological trauma and stress, and other environmental conditions may have a role to play.⁹

6. Muscle Weakness, Slurred Speech, And Twitching May Be Early Signs Of ALS

• The onset of ALS is gradual, usually painless, and the first signs can vary quite a bit. However, the defining symptom of ALS is weakening muscles, a debility that progresses relentlessly.
• For some, the first signs could be trouble with swallowing or eating. Speaking may become a problem too and slurred speech is often a red flag.
• ALS-related weakening usually (but not always) begins with the lower limbs, starting with foot muscles. Cramps in the calf is a common symptom.
• Other people may stumble often, drop things, feel stiff, or feel unusually tired. They may have difficulty with simple tasks like turning a key, buttoning their shirts, or lifting a teapot.
• Another common symptom is twitching in the tongue, arms, and shoulders.
• Uncontrollable laughter or weeping is another symptom. This could be because of certain neurological changes in those parts of the brain that control voluntary regulation of emotions.

7. Diagnostic Tests Are Needed To Distinguish ALS From Other Motor Neuron Diseases

In its early stages, ALS is difficult to diagnose accurately. Many symptoms resemble those associated with Parkinson’s disease, stroke, and other motor neuron diseases. The following tests may be required to rule out other conditions and confirm a diagnosis of ALS:

• An electromyogram (EMG) evaluates electrical activity in the muscles to determine whether they have been affected by nerve damage. Nerve conduction velocity (NCV) test is another type of electrodiagnostic test done
• Muscle and nerve biopsies can also help determine the cause of the patient’s symptoms.
• Genetic testing for mutated genes may be required if ALS runs in the family
• Urine and blood tests
• Spinal tap and magnetic resonance imaging (MRI) of the spine
• A thorough neurological exam^{10
  11}

8. Body Functions Degenerate Over Time In ALS

ALS does not affect every part of the body. An ALS patient will be able to see, have normal bowel and bladder function, feel heat and cold, and pressure and pain. While most also retain cognitive ability, a few may see impairment in this area as well. But as ALS spreads over the body, the limbs, chest and abdomen muscles, face, mouth, and throat progressively weaken. The individual also loses the ability to move various parts of the body.

The speed at which ALS progresses will vary from person to person but chances of improved muscle function or recovery are very bleak. The end, for most ALS patients, approaches when the muscles related to breathing fail. While support with ventilation helps patients breathe, respiratory failure and death usually occur between 3 and 5 years after the onset of the disease. A small number of patients – around 10% – live up to 10 years or more. A very rare number of people (less than 5%) have been known to survive longer than 20 years – among them renowned physicist Stephen Hawking.^{12 13 14}

9. No Cure Yet, ALS Symptoms Need To Be Managed

There’s no cure in sight yet for ALS. So, for those with ALS, the focus has to be on managing motor disabilities that come with degenerating muscles.

• Medication: Some drugs can slightly prolong an ALS patient’s survival. Others are prescribed to ease symptoms like muscle spasms, leg cramps, and facial twitching that disturbs sleep.
• Physical therapy: Daily physical exercise is an extremely important part of ALS management to maintain flexibility of the joints and prevent muscles from contracting.
• Occupational therapy: To navigate daily activities like work, personal care and grooming, and mobility, a therapist will suggest techniques to conserve energy, manage daily activities, and improve range of motion. They will also help customize living and working spaces.
• A special diet: As ALS begins restricting the function of the muscles in the esophagus, dysphagia or difficulty in swallowing will lead to nutritional deficiencies. ALS patients should be given soft foods chosen with care. As the ability to swallow deteriorates further, a gastric feeding tube is the medically suggested option to ensure sufficient intake of food and fluids.
• Devices for communication: Dysarthria is the medical term for speech difficulties that set in with the degeneration of throat muscles in ALS. Inability to communicate can not only be frustrating for ALS patients and their families but also leads to feelings of isolation. Several communication devices can, however, be considered, depending on the level of speech difficulty and muscular degeneration in the upper limbs. If the hand muscles are functional, typing, messaging, or using a small computer with artificial speech articulation are handy ways to communicate.

10. Family Members/Caregivers Should Seek Counseling And Support

The onset and relentless advance of ALS can be overwhelming for someone with ALS as well as their family and friends. Everyone involved grapples with a volley of emotions ranging from fear and anger to helplessness even as they manage day-to-day activities. This is why it’s important to get counseling to better cope with and manage the condition. It’s also a good idea to join support groups and even reach out to family and friends.^{15 16}