WHAT IS ALS?

Do you know what is common between the Ice Bucket Challenge and Stephen Hawking? Both are linked to Amyotrophic Lateral Sclerosis (ALS). The challenge raised more than 100 million dollars for ALS research while the renowned physicist lived more than 50 years with ALS.

Amyotrophic Lateral Sclerosis (ALS): What is It?

Synonyms: Lou Gehrig’s disease, motor neuron disease (MND), Charcot disease

Amyotrophic lateral sclerosis is a rare neurological disease that primarily affects nerve cells found in the spinal cord and brain. These cells are involved in controlling voluntary muscles. ALS is a progressive disease, which means the symptoms become gradually worse.

A person with ALS typically experiences muscle twitching, cramping, stiffness, or weakness, speech problems, and/or problems with chewing or swallowing during the early stage of the disease. Over time, muscles become so weak that the person needs a wheelchair. Within 2 to 10 years after the symptoms first appear, muscles that control breathing become very weak.

No one knows the exact cause of ALS. However, scientists believe a combination of genetic and environmental factors might be to blame. There is no specific diagnostic test for ALS. The diagnosis largely depends on the evaluation of the symptoms. Besides, doctors may order certain tests to exclude other conditions that can cause similar symptoms.

ALS has no cure but medications and therapies can help relieve symptoms, prevent complications, and increase the quality of life.

Types of ALS

1. Sporadic ALS

This type of ALS is not inherited and is thought to occur due to a combination of genetic and environmental factors. This does not mean a person who has inherited faulty genes will develop the disease. However, when the person is exposed to environmental triggers, the faulty genes may lead to ALS. Sporadic ALS constitutes more than 90 percent of all cases of ALS.

2. Familial ALS

Also called FALS, this type of ALS is inherited from parents to their offspring. FALS represents 5 to 10 percent of all cases of ALS. Defects in more than 12 genes can cause familial ALS, says the National Institute of Neurological Disorders and Stroke.

Amyotrophic Lateral Sclerosis: Causes and Risk Factors

Amyotrophic lateral sclerosis affects 2 to 5 per 100,000 individuals. Some forms of the disorder are more frequent in certain groups of people in Japan. However, in all these cases, the cause is not clear. Nonetheless, certain factors may increase the risk, including:

Established risk factors

• Age: Amyotrophic lateral sclerosis is more likely to occur in people between the ages of 60 and 75 years.
• Gender: The risk is higher in men. However, scientists have not yet discovered why this happens.
• Family history: Only 10 percent of the cases are familial.

Possible risk factors

The following factors have been repeatedly linked to an increased risk.

• Smoking
• Contact sports that cause repetitive head trauma
• Mercury in fish and seafood

Interestingly, a few studies suggest that higher physical fitness, lower body mass index (BMI), serving in the military, exposure to electric shock, and certain viral infections may also increase the risk. 

Amyotrophic Lateral Sclerosis Symptoms

Early symptoms such as weakness and muscle wasting (atrophy) can be hard to notice for most people. However, as the disease progresses, the symptoms become more problematic. This is when the condition is most likely to be diagnosed.

The symptoms during the early stages of the disease include:

• Muscle twitches (or fasciculations) in the arm, leg, shoulder, or tongue
• Muscle cramps
• Tight and stiff muscles (spasticity)
• Muscle weakness usually in an arm, a leg, neck or diaphragm.
• Slurred and nasal speech
• Problems with chewing or swallowing.

Most people with ALS usually experience muscle weakness in the hand or arm. This can cause problems with performing simple tasks such as writing, or turning a key in a lock.

Besides, weakness in the muscles of the leg can cause difficulty while walking or running. Some people may stumble more frequently than usual. A small number of persons may first notice problems with speech or swallowing.

Over time, the disease spreads to other body parts. This causes significant problems with moving, swallowing (dysphagia), speaking (dysarthria), and breathing (dyspnea). Eventually, the affected person becomes unable to stand or walk and use their limbs to perform simple daily tasks.

Problems with swallowing and chewing increases the risk of choking. Notably, ALS causes hypermetabolism, which means they use more energy than normal people do. Both these can cause rapid weight loss and malnutrition.

ALS usually does not affect a person’s higher mental functions such as memory, problem solving, and reasoning. This makes them aware of their problem, which can lead to anxiety and depression. Nonetheless, a small number of persons may have problems with decision-making.

When the disease spreads to the respiratory muscles, breathing without assistance becomes difficult. In such cases, the person needs a ventilator to continue breathing. The risk of pneumonia increases during the later stages of the disease.

In some people, muscle cramps may be present along with nerve damage, which causes pain. This condition is called neuropathy.

Amyotrophic Lateral Sclerosis Complications

• Choking: Choking may occur due to weakness in the muscles involved in chewing and swallowing.
• Pneumonia: Pneumonia rarely occurs in people with ALS. However, when it does, it can be life threatening.
• Malnutrition: Problems with swallowing, hypermetabolism, inability to prepare meal and feed, and continuous fatigue can cause malnutrition.
• Bedsores: Bedsores are common during later stages when the person has limited mobility and spends a lot of time lying on the bed.

Amyotrophic Lateral Sclerosis Diagnosis

There is no single test for ALS diagnosis. Your doctor may suspect the condition based on the evaluation of the symptoms.

Then, they can refer you to a neurologist. A neurologist is a doctor who has received special training in diagnosing and treating diseases of the brain and spinal cord.

The neurologist will review your full medical and family history. They will also ask questions to know if the symptoms have become worse over a period. Besides, they will order a variety of tests to eliminate other conditions that can cause similar symptoms.

Blood and Urine Tests

These tests do not diagnose ALS but they will help the neurologist eliminate other conditions with the same kind of symptoms.

Testing the samples of blood and urine can help the diagnosis of conditions, such as:

• Thyroid problems
• Vitamin B12 deficiency
• Liver problems such as Hepatitis
• Cancer
• Disorders that develop when your immune system attacks the body’s healthy cells and tissues (also called autoimmune disorders)

Genetic testing may be necessary if you have a family history of ALS. Sometimes, you may need to test your spinal fluid for problems. This is called a lumbar puncture or spinal tap.

Muscle and Nerve Tests

These are collectively called electrophysiological tests. Abnormal results from these tests help the neurologist confirm ALS diagnosis.

• Electromyography (EMG)

EMG records the electrical activity of muscles. Because ALS causes abnormal recordings of the electrical activity in muscles, EMG can be a valuable diagnostic tool for ALS diagnosis. 

• Nerve Conduction Study (NCS)

NCS helps detect problems with conduction of signals along the nerve or to the muscle.

• Muscle biopsy

In a muscle biopsy, your doctor removes a small sample of muscle from the affected part and sends it to a laboratory for further evaluation. 

Imaging Tests

The most commonly used imaging test for ALS diagnosis is what doctors call a magnetic resonance imaging (MRI) test. MRI uses radio waves and a strong magnet that creates detailed images of the brain and spinal cord.

Though MRI does not detect ALS, it is useful in detecting other problems that might be causing the symptoms. These include a spinal cord tumor and a herniated disk in the neck.

Remember, you can ask for a second opinion by another neurologist after an ALS diagnosis.

Amyotrophic Lateral Sclerosis Treatment: Medications, Supportive Care, and Recent Developments

There is no cure for ALS. Therefore, available treatments are supportive in nature. They focus on improving the symptoms and increasing the quality of life. Nonetheless, some medications can help slow down the progress of the symptoms, extend life, and improve daily functioning.

Medications

The US Food and Drug Administration (USFDA) has approved two medications to treat ALS. They are:

1. Riluzole

Riluzole is the first FDA-approved medication for amyotrophic lateral sclerosis. It is available in the form of tablet and suspension. Riluzole tablet was approved in 1995 while its suspension was approved in 2018.

Scientists do not yet know how it works. However, they believe it might work to reduce nerve damage by decreasing the levels of glutamate.

Riluzole is shown to extend life. In some patients, it may also delay the need for a breathing tube.

2. Edaravone (Radicava)

Edaravone is an injectable medication. It is a new treatment for amyotrophic lateral sclerosis that is thought to work by reducing oxidative stress. Increased oxidative stress damages the nerves. It slows the progress of the disease. The FDA approved edaravone for ALS treatment in 2017. 

Supportive Care

ALS affects various body functions and several aspects of a person’s life. Thus, a team of  thje best health care professionals from different specialties is required to provide optimal care. The members of the team include:

• Physicians: They prescribe medications that help relieve muscle cramps, relieve pain, improve sleep, and reduce muscle contractions.
• Pharmacists: They counsel patients about the proper use of medications to improve outcomes and reduce side effects.
• Physical therapists: They provide physical therapy sessions that help people with ALS live an independent life.
• Occupational therapists: They help patients attain improved mobility with the use of devices, such as braces, walkers, and wheelchairs.
• Speech therapists: If a person with ALS has problems with speaking and forming words, a speech therapist can help.
• Nutritionists: They help patients and their carers plan and prepare nutritious meals.
• Social workers: They help patients attain the highest possible quality of life during the course of the disease.
• Respiratory therapists: They teach the carers about the proper use of respiratory devices.
• Clinical psychologists: They help patients and their carers on ways to deal with the emotional issues caused by ALS.
• Home care nurses: They not only provide medical care but also non-medical care such as teaching the carers about feeding through a tube and measures to reduce mobility problems.

Together, these health care professionals design a treatment plan that best suits the unique individual needs of the patient.

Recent Developments in ALS Treatment

Treating amyotrophic lateral sclerosis is a challenge for clinicians worldwide. This is due to the complex nature of the origin of the disease and short survival time.

However, there have been a few promising studies regarding ALS treatment in recent years. Below are some of the most promising study results.

1. The first human trial for a potential ALS drug begin in late 2018

Anelixis Therapeutics, Inc., a for-profit subsidiary of ALS Therapy Development Institute (ALS TDI), has started testing a new potential drug, AT-1501, in both healthy and ALS volunteers, reports prnewswire.

According to Anelixis, the preliminary study will test the safety and tolerability of AT-1501. Moreover, researchers will also study the movement of the molecule moves within the body (metabolism).

AT-1501 is the result of a joint effort by ALS TDI, Amyotrophic lateral sclerosis association, ALS One, and ALS Finding a Cure.

2. Researchers start testing a new drug for familial amyotrophic lateral sclerosis

Researchers at the Washington University School of Medicine have started a phase one/two clinical trial to find out whether a new drug could help people with familial amyotrophic lateral sclerosis.

The drug has already shown promising results in mice and rats and now researchers are hoping the drug would have similar benefits in humans.

3. A new treatment approach could prevent the formation of toxic protein deposits in nerve cells of ALS patients

Deposits of a toxic protein (TDP-43) are a hallmark of ALS. More than 90 percent of patients have these toxic protein deposits in their nerves, suggests postmortem evidence.

According to a 2019 study, preventing the formation of these toxic deposits could protect nerve cells from damages.

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Sources:

• USA Today. Ice Bucket Challenge: 5 things you should know. Retrieved March 1, 2019.
• Stephen Hawking Brief Biography. Retrieved March 1, 2019.
• Genetic and Rare Diseases Center. Amyotrophic lateral sclerosis. Retrieved March 1, 2019.
• National Institute of Neurological Disorders and Stroke. Amyotrophic Later Sclerosis (ALS) Fact Sheet. 
• Neuroepidemiology. Global Epidemiology of Amyotrophic Lateral Sclerosis: a Systematic Review of the Published Literature.
• Gender Medicine. Effects of gender in amyotrophic lateral sclerosis.
• Annals of neurology. Smoking and Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study.
• Global spine journal. Contact Sports as a Risk Factor for Amyotrophic Lateral Sclerosis: A Systematic Review.
• EurekaAlert. Mercury in fish, seafood may be linked to higher risk of ALS. Retrieved March 1, 2019.
• Clinical Epidemiology. Risk factors for amyotrophic lateral sclerosis.
• MedlinePlus. Riluzole. Retrieved March 1, 2019.
• Pharmacy and Therapeutics. Edaravone (Radicava) A Novel Neuroprotective Agent for the Treatment of Amyotrophic Lateral Sclerosis.
• PR Newswire. ALS Organizations Collaborate to Advance New Therapeutic into Trials. Retrieved March 1, 2019.
• ScienceDaily. New ALS therapy in clinical trials. Retrieved March 1, 2019.
• Neuron. RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43.

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