Amyotrophic Lateral Sclerosis

About

What is amyotrophic lateral sclerosis (ALS)?

ALS is a progressive disease that causes the patient to slowly lose control of muscles needed to move, speak and breathe. It usually begins with muscle twitching, weakness or stiffness in an arm or leg and slurred speech. This rare neurological disease (affects the nerves) mainly damages nerve cells that control voluntary muscle movements such as chewing, walking or talking. There is no cure or treatment; the cause is unknown; and ALS is always fatal, usually from inability to breathe (respiratory failure). The average period from first symptoms to death is three to five years. However, about 10% of ALS patients live 10 years or more; 5% live 20 years or longer.

ALS is one of the motor neuron diseases. Motor neurons are nerve cells that extend from the brain to the spinal cord and to muscles throughout the body. ALS causes deterioration or degeneration of motor neurons. As motor neurons degenerate, they no longer send messages to muscles. The muscles weaken and atrophy (waste away), and the brain loses the ability to initiate and control voluntary muscle movements.

Causes

What causes amyotrophic lateral sclerosis?

  • Familial ALS is genetic. Approximately 5 to 10% of ALS patients inherit the disease from a parent. Children of ALS patients have a 50-50 chance of developing it. Researchers have identified more than 12 gene mutations (changes) that affect the degeneration of motor neurons. Examples of mutations include how molecules are produced, the structure and shape of motor neurons, how proteins are recycled, and enhanced susceptibility to environmental toxins. This year, researchers discovered a rare form of familial ALS that affects children as young as age 4. It’s linked to gene mutations that are associated with how the body produces and uses fats. 
  • Sporadic ALS, which has an unknown cause, comprises 90-95% of all ALS cases. However, a tiny percentage of sporadic ALS is also affected by gene mutations. Most experts believe sporadic ALS is caused by a complex interaction between gene mutations and toxins (poisons) in the environment. Possible environmental causes may include exposure to poisons or infectious materials, viruses, injuries, and diet. 

Who’s at risk of developing amyotrophic lateral sclerosis?

  • Having a parent with ALS, although the risk is very low
  • Age increases ALS risk; symptoms develop most often between the ages of 40 to 70, although it can affect people at any age
  • Smoking tobacco
  • Exposure to toxins such as lead, pesticides or workplace chemicals
  • Military service increases ALS risk two times more than non-vets, possibly due to exposure to toxins, metals or chemicals, injuries or viral infections, or intense physical exertion   
  • Being White or non-Hispanic

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Symptoms

What are the symptoms of amyotrophic lateral sclerosis?

ALS patients can have different symptoms, or a different progression of symptoms. The universal symptom is muscle weakness and eventual paralysis. Early symptoms of ALS are often overlooked or ignored because they’re so subtle. Symptoms can include some or all of these:

  • Muscle twitches or cramps in an arm, leg, shoulder or tongue
  • Tight or stiff muscles
  • Muscle weakness in an arm, leg, neck or diaphragm (breathing muscles)
  • Slurred speech
  • Hand weakness or clumsiness; problems with simple hand movements such as dressing or writing
  • Problems chewing or swallowing
  • Awkwardness when walking or running; may trip or stumble more often
  • Inappropriate crying, laughing or yawning
  • Behavioral changes

More advanced symptoms occur when muscle atrophy and weakness spread to other parts of the body. Weakness, atrophy and muscle paralysis of the limbs and trunk, and those that control speech, swallowing and breathing continue to get worse. These symptoms include problems with:

  • Movement
  • Swallowing (dysphagia)
  • Forming words and speaking (dysarthria)
  • Breathing (dyspnea)

Advanced ALS symptoms include:

  • Unable to stand or walk
  • Unable to get in and out of bed without help
  • Unable to use their arms and/or legs
  • Difficulty eating and swallowing; most patients lose weight rapidly because they burn calories quickly and can become malnourished 
  • Unable to breathe without a mechanical ventilator (breathing machine)
  • Some patients develop frontotemporal dementia over time, although this symptom is rare
  • Risk of pneumonia increases
  • Muscle cramps 
  • Painful nerve disease or damage (neuropathy)

The progression of ALS is inevitable but not always at a constant rate. Many patients have weeks to months where there is very little or no additional loss of function. Some patients show improvement and recover lost function, but this is rare. These reversals do not last; it’s rare that improvement in function lasts longer than a year. 

People with ALS do not lose their mental capacity (cognitive function) to reason, remember, understand and solve problems. Their senses remain intact and pain is uncommon. They are very aware of their increasing physical deficits, and inability to live independently. Because of the increasing losses they are experiencing, it is common to become depressed or anxious.

Diagnosis

How is amyotrophic lateral sclerosis diagnosed?

There is no one test that can diagnose ALS, making it difficult to diagnose in the early stages. Several diseases have some of the same symptoms as ALS. The ALS Association recommends that anyone diagnosed with ALS get a second opinion from an ALS expert trained in this medical specialty and who treats many ALS patients. 

The doctor will do a physical examination and conduct diagnostic tests to rule out other diseases. A complete diagnostic workup includes some or all of these procedures:

  • Electromyography (EMG) detects electrical activity of muscles
  • Nerve conduction tests measure the electrical activity of nerves and muscles by measuring nerves’ ability to send signals to a muscle
  • Blood, urine, and thyroid hormone levels 
  • Spinal tap provides a sample of spinal fluid for lab testing
  • X-rays and MRI can provide detailed images of the brain and spinal cord
  • Myelogram of spine
  • Muscle and/or nerve biopsy
  • Complete neurological exam

To help with an accurate diagnosis, keep a notebook or other record of your symptoms, when they occur, and how they affect you. Record any problems with walking, speaking, swallowing, involuntary muscle movements, and other symptoms. Your doctor may be able to detect patterns that can guide your treatment.

Treatment

Is there any treatment for amyotrophic lateral sclerosis?

There is no treatment that can reverse the damage of ALS, but medications can slow the progression of symptoms, help prevent complications, and improve patients’ quality of life. 

  • Riluzole is a medication that can increase life expectancy by three to six months. Side effects include dizziness, changes in liver function and stomach problems.  
  • Edaravone, which is given by intravenous infusion daily for two weeks each month, can reduce the decline in daily functioning. Side effects can include headaches, bruising and shortness of breath. 
  • Other medications can provide relief from symptoms such as muscle cramps and spasms, constipation, fatigue, pain, depression, sleeping problems, excessive saliva and phlegm, and uncontrolled outbursts of laughing or crying.
  • Mechanical ventilators can help with breathing when muscles weaken; in early stages, other devices can help with breathing at night. 
  • Physical therapy helps with pain, walking, and adjusting to braces or a wheelchair. Stretching exercises help muscles continue to function.
  • Occupational therapy can teach the patient ways to remain independent if hand and arm weakness is a problem. Learning to use adaptive equipment helps with dressing, eating, bathing and overall independence. 
  • Speech therapy can teach ways to make speech more understandable. Computer software can provide text-to-speech applications or synthesized speech.
  • Nutritional support ensures an appropriate diet that’s easy to swallow. 
  • Psychological support can help with the many health and emotional changes, and keep circumstances from overwhelming the patient and their family. 
  • Develop a supportive health care team to get the best care and quality of life. Your team may include doctors, pharmacists, therapists, social worker, psychologist, home care and hospice nurses, and caregivers.
  • Find ways to increase coping and support. These can include taking time to grieve the fact that you have a fatal disease that will reduce your independence. A period of grieving is normal after an ALS diagnosis. Try to remain hopeful that you can live longer than average. Maintaining optimism improves quality of life for ALS patients and their family. Try not to think of ALS as your entire identity. Support groups can help the patient and family adjust to the new reality of ALS. Gain a sense of control over the disease by making decisions about future financial and legal needs, and about the kind of medical care you want.

References

Mayo Clinic. (Oct. 2021). Amyotrophic lateral sclerosis (ALS). Retrieved 10-21-21, {https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022#:~:text=Amyotrophic%20lateral%20sclerosis%20(a%2Dmy,who%20was%20diagnosed%20with%20it.}
Mayo Clinic. (Oct. 2021). Amyotrophic lateral sclerosis (ALS) Diagnosis and Treatment. Retrieved 10-21-21, {https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/diagnosis-treatment/drc-20354027}
ALS Association (April 2021). What is ALS? Retrieved 10-22-21, {https://www.als.org/understanding-als/what-is-als}
National Institute of Neurological Disorders and Stroke. (May 2021). Amyotrophic Lateral Sclerosis (ALS) Fact Sheet. Retrieved 10-22-21, {https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet}

Information

Medically reviewed by:

Dr. Desiree Levyim

Dr. Desiree Levyim is a board eligible neurologist in practice since 2020. She joins TeleMed2U in our mission to provide increased access to healthcare.

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Affordable –
with or without insurance

With Insurance

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Your copay
Depending on insurance

Without Insurance

Neurology

$149

Initial Visit

$75

Follow Up