ALS (Amyotrophic Lateral Sclerosis): Causes, Symptoms & Treatment

ALS (Amyotrophic Lateral Sclerosis) is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness and paralysis.

Amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, affects nerve cells that control muscle movement.1 It causes muscle twitching, weakness, and eventually, complete paralysis.1 Symptoms can make walking, talking, breathing, and swallowing hard.1

The exact causes of ALS are not fully understood. It’s thought to result from a mix of genes and environment.1,2,3 Most people get ALS between ages 55 and 75. It’s more common in men under 65.1,2 About 10% of cases are inherited. The other 90% seem to appear without a known genetic reason.2,3

Despite being a serious, life-changing disease, there are treatments and support available for ALS. The FDA has approved drugs like riluzole and edaravone. These medicines can help a bit by slowing disease progress and extending life.2,3 Also, rehab, physical therapy, and other supports can help keep function, independence, and life quality for people with ALS.2

Key Takeaways:

  • ALS affects the nerve cells controlling muscle movement, leading to paralysis and breathing problems.
  • The causes of ALS are a combination of genetic and environmental factors, with 10% of cases inherited.
  • Although ALS has no cure, FDA-approved drugs and supportive care can help manage symptoms and slow down the disease.
  • ALS usually starts between 55 and 75, with a higher occurrence in men under 65.
  • Support and coping strategies are important for individuals with ALS and their families to enhance their quality of life.

What is ALS (Amyotrophic Lateral Sclerosis)?

ALS stands for amyotrophic lateral sclerosis. It’s a disease that affects the brain and spinal cord.1 These parts control how our muscles move. It’s often called Lou Gehrig’s disease, after a famous baseball player who had it. ALS makes the nerve cells in your brain and spinal cord slowly die. This leads to muscle weakness and even paralysis.1 Eventually, it makes it hard to walk, talk, eat, and breath.

Definition and Overview

This illness targets the neurons that help move our muscles. When these neurons die, muscle control fades away.1 This marks the beginning of a tough journey for those affected.

Also Known as Lou Gehrig’s Disease

Lou Gehrig named the disease after himself. He was a celebrated baseball player. His story shed light on the condition.1

A Progressive Neurodegenerative Disorder

ALS gets worse over time. As more neurons break down, muscle control is lost. This can lead to complete paralysis.1

Symptoms of ALS

The first signs of ALS might include muscle twitching, weakness, and cramps. These usually start in the hands, feet, or limbs.2 Over time, this can spread throughout the body. It can affect walking, talking, swallowing, and breathing.2 Speaking and swallowing might get harder as these muscles weaken.2 Eventually, it might lead to not being able to move at all. The start of ALS is often pain-free and it doesn’t harm thinking or senses.

Muscle Weakness and Atrophy

With ALS, muscle weakness and shrinking are common. This can stop someone from doing simple tasks.2 It’s because their nerve cells that control muscles are dying. So, they find it hard to walk, hold things, and stay balanced.

Speech and Swallowing Difficulties

It’s tough for ALS patients when the muscles for speaking and swallowing weaken.2 They might start to slur their words and find it hard to eat. This can lead to not getting enough food and water.1 Later on, they might need special ways to talk or eat.

Breathing Problems

One of the serious parts of ALS is when breathing muscles get weak.1 This can make breathing hard and cause trouble with coughing. In the end, some might need a machine to help them breathe properly.

ALS symptoms

ALS SymptomDescription
Muscle Weakness and AtrophyGradual loss of muscle control and coordination, making it difficult to perform everyday tasks.
Speech and Swallowing DifficultiesSlurred speech and trouble swallowing, leading to communication challenges and risk of malnutrition.
Breathing ProblemsWeakening of respiratory muscles, resulting in shortness of breath, difficulty coughing, and the need for respiratory support devices.

Causes of ALS

The exact cause of ALS isn’t fully understood, yet it seems to be linked to both genes and the environment.1 ALS causes motor neurons in the brain and spinal cord to break down and die. These neurons let us move our muscles on our own.1

About 10% of ALS cases run in families, connected to specific genetic changes. For the other 90%, the cause is unknown.3

Motor Neuron Degeneration

ALS is known for making these motor neurons die. This leads to muscles getting weaker over time. It ends up causing paralysis in many ALS patients.

Genetic Factors

About 10% of ALS cases have a family history and recipe.1 Certain gene changes have been linked to ALS, including SOD1, C9orf72, TARDBP, and FUS.3

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Even without a known family history, new discoveries show genes might still matter in most ALS cases.3

Environmental Factors

There’s also a look at environmental causes of ALS.1 Contact with certain toxins or infections might raise ALS risks.1

Studies hint military service might increase ALS risk, maybe from exposure to certain chemicals.1

Risk Factors for ALS

Many things might boost your chance of getting ALS. The top one is your age. Usually, people from about 60 to their mid-80s get it the most.1 Before you turn 65, more men seem to have ALS. But after 70, this doesn’t seem to matter.1

Military Service

If you’ve been in the military, you might have a higher ALS risk. This could be because of exposure to metals, chemicals, or things experienced while serving.4 Those in the Gulf War are almost twice as likely to get ALS than other military folks.4

Smoking and Toxic Exposure

Smoking and coming into contact with harmful substances could up your risk.1 For women who smoke, the risk is even higher once they’re past menopause.1 Being around lead or other bad stuff at work or home might also play a role.1 If you’ve breathed in chemicals from dyes, batteries, or worked with solvents, you’re looking at three to six times the risk.4 Trauma to the head, neck, or spine, as well as serious brain injuries, could be connected too. The odds to get ALS go up with big head traumas.4

ALS risk factors

Sporadic and Familial ALS

ALS comes in two main types: sporadic ALS and familial ALS. Sporadic ALS shows up without warning in most cases, about 90%. It doesn’t have a known genetic link or run in the family.5 On the other hand, familial ALS is found in fewer people. It’s connected to genetic changes that can be inherited.5 Recent studies suggest ALS cases with genetic causes might be more common than we thought. So, genes seem to play a big part in who gets ALS.5

Familial ALS (FALS) makes up about 10% of all ALS cases. In FALS families, more than one person might have ALS or disease.5 Signs can show up earlier than in cases of sporadic ALS. Also, in FALS, there’s a 50% chance parents pass the mutated gene to their kids.5

Tests for all possible FALS mutations can cost thousands each year.5 Checking for just one can be from $500 to $1500. But if it’s a known family mutation, it’s less, about $400.5 Still, insurance might not cover these tests. And people may worry about how test results could affect their jobs or health coverage. The Genetic Information Nondiscrimination Act of 2008 does guard against some types of discrimination.5 It doesn’t cover everything, though.5 Deciding to get tested or not is very personal. The choice is influenced by many factors like planning for the future, understanding risk, and managing stress.5

CharacteristicSporadic ALSFamilial ALS
PrevalenceApproximately 90% of ALS cases5Around 10% of ALS cases5
Family HistoryNo known genetic cause or family history5Linked to genetic mutations that can be passed down5
Age of Symptom OnsetTypically later in life5Often earlier compared to sporadic ALS5
Genetic TestingGenetic testing not typically indicated5Approximately 60-70% have a positive genetic test result5
Genetic InheritanceNot inherited5Most often autosomal dominant, with a 50% chance of passing the mutation to each child5

Diagnosing ALS

Finding out if someone has amyotrophic lateral sclerosis (ALS) takes a detailed medical checkup. A single test can’t say for sure if it’s ALS. Doctors look at a person’s past health, do a thorough physical exam, and a series of tests. They do this to rule out other reasons for the symptoms.6

Physical Examination

A neuro exam is key in diagnosing ALS. Doctors check reflexes, muscle strength, and more. They’re looking for signs of nerve damage.6

Electromyography (EMG)

EMG is a test that checks the muscle’s electric signals. It confirms if the nerves controlling muscles are breaking down. This is a common finding in ALS.6

Imaging Tests

Imaging like MRI scans look for brain and spinal cord issues. These help rule out other illnesses that look like ALS.6

Eliminating Other Conditions

Along with physical exams and tests, blood and fluid checks are also done. They ensure it’s not a different disease. This full check is vital for an accurate ALS diagnosis.6

A fast and correct ALS diagnosis matters a lot. It allows for starting treatment early and improving the patient’s life quality.6

Treatment Options for ALS

ALS has no cure yet, but there are ways to manage its symptoms and slow down progression.2

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FDA-Approved Medications

The FDA has greenlit a few drugs for ALS. This includes riluzole, edaravone, and sodium phenylbutyrate/taurursodiol. They can slightly increase life expectancy and reduce functional loss.2 Riluzole helps by extending life for a few months and protecting motor neurons from too much glutamate.2 Edaravone, on the other hand, can slow the functional decline in some patients.2 But, Relyvrio was pulled off shelves because it didn’t meet expectations in tests.2 Tofersen is given by spinal injection to those with SOD1 gene mutations.2

Symptom Management

There are also supportive treatments to manage symptoms and aid in better life quality.2 This support system includes doctors, therapists, dietitians, and social workers.2

Rehabilitation and Therapy

Treatments like physical, occupational, and speech therapy are essential for ALS patients.2 They tackle problems like muscle cramps, malnutrition, and breathing issues, which are common.2 These treatments are customized by a health team for each person.2

Complications of ALS

As ALS moves on, it brings several troubles that really affect a person’s wellness and life quality. The worst issue is the breathing muscles getting weaker. This makes it hard to breathe normally.1 Breathing gets difficult, leading some to need a ventilator. Without help, breathing problems are often fatal.1 To aid breathing, some may require a tracheostomy, creating a new way to breathe through their neck.1

Respiratory Failure

The weakening of the respiratory muscles is a big worry for those with ALS. It can cause breathing to fail, which is the main reason ALS patients pass away.2 Sadly, most people with ALS leave us because they can’t breathe by themselves. This usually happens within three to five years after their symptoms start, though a few may live over ten years.2

Malnutrition and Dehydration

Loss of the ability to swallow and eat well leads to malnutrition and dehydration in ALS patients.1 This can then raise the risk of catching pneumonia.1

Frontotemporal Dementia

Some ALS patients might also get frontotemporal dementia, which affects the way they talk, decide things, and think.1 It can change how they use words and make choices.1

To handle these challenges well, close care and special attention are needed as ALS goes on.

Living with ALS

ALS is a tough challenge for both the person with the disease and their family. It’s rare, affecting two out of 100,000 people.7 The author was diagnosed in 2012 at the ALS Clinic in Vancouver.7

Coping Strategies

To keep life quality, it’s vital to find good ways to cope. Use things like tech aids, home changes, and more to help.8 After three years, the author noticed muscle twitches and changes in her skin and nails.7 Also, getting emotional help from pros and groups can make a big difference.8

Support Groups

Being part of support groups can really help folks with ALS. Whether online or in-person, these groups offer emotional and practical support.8 The author had caregivers by her side every day of the week.7

End-of-Life Decisions

At a certain point, discussing end-of-life options is important for those with ALS and their families.7 This includes topics like feeding tubes and ventilators. In 2014, a feeding tube was put in, though the author was initially against it.7

Living with ALS takes a mix of coping strategies, support, and planning ahead. Addressing these areas can help improve life quality during this tough time.789

Research and Clinical Trials

Ongoing ALS research and clinical trials help a lot. They move us forward in fighting this tough disease. Scientists are looking at many things. This includes genes and the environment’s role in ALS. They’re also checking out new treatments. These range from stem cell and gene therapies to special drugs that protect nerves.10

ALS clinical trials are critical for finding out if new treatments work and are safe. People with ALS should think about joining these studies. They could get a chance to try new therapies. The process of ALS clinical trials goes from small tests (Phase 1) to larger ones like Phase 3. In Phase 3, the main goal is to see if the treatment really helps with ALS.

ALS research keeps moving because of investments and dedicated people. The ALS Association and others give money and resources. This helps make more ALS clinical trials possible. It also supports early tests of new ALS treatments.

Recent studies look at how well different ALS treatments work. They’ve checked riluzole’s effectiveness and other drugs like sodium phenylbutyrate-taurursodiol. There’s also hope with therapies like masitinib added to riluzole and ultra-high-dose methylcobalamin. Scientists keep looking into more ALS treatments. This includes ezogabine, tirasemtiv, ozanezumab, dexpramipexole, and lunasin. They use clinical trials to find out if these treatments help people with ALS.11

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Research on biomarkers and other signs in ALS and related diseases is big. It gives us new clues on how these diseases move and the impact of treatments. The work of researchers plus ALS patients taking part in trials is key. It pushes ALS treatment improvement forward. This helps everyone dealing with this tough condition.

Conclusion

ALS, also known as amyotrophic lateral sclerosis, is a severe health issue. It harms the nerve cells controlling our voluntary movements. We’re not exactly sure what causes ALS, but experts think it’s a mix of12 genes and environmental13 things. This illness starts by making muscles weak and twitchy, then it attacks speech, swallowing, and breathing.12

For ALS, there isn’t a cure yet. But, people have created FDA-approved drugs and helpful therapies. These treatments can slow down how fast the illness gets worse. Living with ALS is tough, but with a supportive healthcare team and loving ones, it’s possible to have a good life.14

Scientists are still working hard to find new and better treatments for ALS. They hope to one day beat this disease or at least control it better. The ALS community is united in its efforts to learn more and find creative ways to help those with the illness.13

FAQ

What is ALS (Amyotrophic Lateral Sclerosis)?

ALS is a disease that harms the nerve cells in your brain and spinal cord. These cells control how your muscles move. It’s sometimes called Lou Gehrig’s disease. A famous baseball player named Lou Gehrig had it.ALS gets worse over time. It makes the nerve cells die, which causes muscles to get weak and stop working.

What are the early symptoms of ALS?

At first, you might notice muscle twitches, weakness, and cramps. This often starts in your hands or feet. As time goes on, it can affect the way you walk, talk, eat, and breathe.

What causes ALS?

Scientists are not sure what exactly causes ALS. But, they think it might be because of a mix of your genes and things in the environment. The disease makes the special cells that control our muscles slowly stop working.

What are the risk factors for developing ALS?

Getting ALS is more likely when you’re older, between 60 and the mid-80s. Before 65, it affects more men. But after 70, men and women get it about the same. Some people think that being in the military or smoking can increase the chances of getting ALS. Also, breathing in or touching certain chemicals might have an effect.

How is ALS diagnosed?

Doctors don’t have one simple test to say you have ALS. They need to do a few things first. They’ll look at your history, do a physical check-up, and some tests. They use a special kind of test called electromyography (EMG) to see how your muscles are working.Then, they might do scans and tests on your blood, pee, or spinal fluid. This is to make sure you don’t have something else.

What treatment options are available for ALS?

There’s no cure for ALS yet, but there are ways to help. Medicine like riluzole and edaravone can slow down the disease a bit. Therapies for your body, speech, or to help you breathe are also important. They can’t stop the disease, but they do help you live better.

What are the common complications associated with ALS?

The worst thing that can happen with ALS is not being able to breathe. This makes you need help to breathe or use a machine. Problems with eating and drinking, like choking, are also common. Some people get trouble with thinking and talking.

How can individuals with ALS cope with the challenges of the disease?

It’s really important to find ways to make life better with ALS. Using tools to help you move, making your home easy to get around, and getting support are key. Joining support groups can help a lot. Talk with your loved ones about what you want at the end of life. This is crucial for everyone’s peace of mind.

What is the current state of research and clinical trials for ALS?

Scientists are working hard to find out more about ALS and how to treat it. They are looking at both genes and the environment. There are new treatments being tested in clinical trials. Joining a trial might give you access to something that could help.

Source Links

  1. https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022
  2. https://www.ninds.nih.gov/health-information/disorders/amyotrophic-lateral-sclerosis-als
  3. https://www.hopkinsmedicine.org/health/conditions-and-diseases/amyotrophic-lateral-sclerosis-als
  4. https://www.als.org/research/als-research-topics/als-risk-factors
  5. https://www.als.org/navigating-als/resources/familial-amyotrophic-lateral-sclerosis-fals-and-genetic
  6. https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/diagnosis-treatment/drc-20354027
  7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330154/
  8. https://alsnewstoday.com/living-with-als/
  9. https://alsnewstoday.com/living-with-als-2/
  10. https://www.als.org/research/clinical-trials-for-patients
  11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659356/
  12. https://www.ncbi.nlm.nih.gov/books/NBK573427/
  13. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653353/
  14. https://emedicine.medscape.com/article/1170097-overview