What Is Sporadic ALS?
Medically reviewed by Smita Patel, DO
Sporadic ALS (amyotrophic lateral sclerosis) is a type of neurodegenerative disease that develops in a person without risk factors or a family history of ALS. Most ALS cases are sporadic.
This article discusses the symptoms, causes, diagnosis, and treatment options for those who develop this disease.
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Sporadic ALS Symptoms
Since sporadic ALS is characterized by its cause, the symptoms are the same as other types of ALS. The signs of disease differ depending on how long a person has had it.
Early symptoms include:
Muscle twitches in the tongue, leg, arm, or shoulder
Muscle cramps
Spasticity, which means an increase in muscle tone that leads to the tightening and stiffening of the muscles
Muscle weakness that can affect the neck, diaphragm, leg, or arm
Speech issues such as nasal or slurred speech
Difficulty with swallowing or chewing
Difficulty with walking or running
Increased risk of falling
These early symptoms often begin by affecting one area of the body, such as the hand, arm, or leg.
ALS is progressive, meaning it worsens over time. Some later signs of the disease include:
Muscle weakness in other areas of the body
Difficulty moving
Drooling or the inability to control saliva
Difficulty with talking or forming words when trying to speak
Being unable to breathe normally
Weight loss
Malnutrition
Anxiety or depression
Neuropathy (nerve damage that causes pain and weakness, usually in the hands an
Chronic pain
Fatigue
Symptom Progression of Sporadic ALS
Eventually, people with sporadic ALS lose their ability to:
Walk
Stand
Move
Use their limbs
Breathe on their own
Eat on their own
Learn More: What Are the Stages of ALS?
Causes
Medical researchers are still trying to determine the cause of sporadic ALS. They have, however, found specific gene mutations and environmental factors that may play a role in its development.
Genetics
There are several genes associated with the onset of sporadic ALS. In 7% to 10% of cases, the C9orf72 gene is behind the disease. That specific gene provides the information needed for the body to create a protein found in motor nerve cells in the brain and spinal cord.
The C9orf72 gene goes through a mutation known as a hexanucleotide repeat expansion. That change is what drives the onset of the disease. Other genes associated with the onset of sporadic ALS include:
SOD1
FUS
TARDBP
TBK1
The changes to these genes influence proteins known as RNA-binding proteins. RNA-binding proteins are heavily involved in the onset of ALS. The genetic involvement in sporadic ALS is not inherited (passed down through families).
How Many Genes Are Associated With ALS?
Over 20 genes are related to the development of ALS. Researchers believe that as they continue to search for a cause, more will be uncovered.
Environment
Although research is still ongoing regarding environmental factors, sporadic ALS development can be influenced by:
Toxins
Infectious agents
Viruses
Physical trauma
Poor diet
Diagnosis
Because no single test can diagnose sporadic ALS, people with the disease must undergo thorough medical testing with their healthcare provider. A complete medical history is also needed.
Symptom history and observation are the primary tools used to diagnose the disease. Some possible tests used to determine if someone has sporadic ALS include:
Nerve conduction study
Blood and urine tests eliminate other diseases that could be causing similar symptoms
Muscle biopsy to rule out other muscle diseases
How Long Does It Take to Get Diagnosed With Sporadic ALS?
Typically, people who develop sporadic ALS will have to undergo a thorough diagnostic process. Because of that, it can take anywhere from nine to 12 months to be diagnosed with the disease.
Treatment
There is no cure for ALS. Treatment focuses on relieving symptoms and making people with the disease more comfortable. There are various therapy options available to encourage the best possible quality of life for people with sporadic ALS, such as:
Medications: Rilutek (riluzole), Radicava (edaravone), Relyvrio (sodium phenylbutyrate/ taurursodiol), and Qalsody (tofersen) are used to reduce damage to neurons and slow the progression of the disease. Other medications may be used to address symptoms such as muscle cramps or spasms, depression, or sleep issues.
Physical therapy: To encourage movement and independence for as long as possible, people with sporadic ALS may participate in low-impact physical exercises such as walking, swimming, and stationary bicycling. These movements are designed to maintain muscle strength and prevent muscle stiffness.
Occupational therapy: Occupational therapy involves using aids such as walkers, braces, or wheelchairs to enable people with sporadic ALS to retain their mobility.
Speech therapy: Since people with sporadic ALS may have difficulty speaking, they may participate in communications support that includes a speech therapist and use speech devices that can help them communicate using a computer.
Nutrition: In some cases, a person with the disease may seek out nutritional support if they have trouble with eating and malnutrition.
Breathing support: Eventually, the muscles that aid breathing will weaken in people with ALS. Breathing support devices such as a ventilator may be used in these instances.
How Long Does Treatment Last?
People with sporadic ALS will have to treat the disease for the rest of their lives.
Read Next: Experimental ALS Drug Slows Disease Progression in Preliminary Study
Prognosis
Sporadic ALS is fatal. Once a person gets diagnosed with the disease, they will have to undergo treatment until treatment no longer works.
After a person develops sporadic ALS, they will most likely die within 30 months. Only 20% of people with the disease will live five to 10 years after their symptoms begin.
Coping
Because sporadic ALS is a fatal disease, people diagnosed with it must learn how to cope with their symptoms to maintain a good quality of life for as long as possible. One coping mechanism involves putting palliative care measures in place.
Palliative care promotes symptom management in a way that allows people with the disease to live normally or as normally as they can as the disease progresses. Palliative care revolves around the same treatment options mentioned above.
The ALS Association offers support groups for people with the disease. Support groups can help with coping because they provide tools to use and the option to connect with others living through the same experience.
Coping With Sporadic ALS
Hearing that you have a fatal disease is devastating. Here are some ways you can cope with the life-changing news:
Give yourself time to grieve.
Learn as much about the disease as possible.
Try to stay positive as new treatments and research are developing ways to extend lives as well as improve quality of life for people with sporadic ALS.
Summary
Sporadic ALS, which seems to occur at random, presents the same as typical ALS. Most cases are considered sporadic. People with sporadic ALS may have genetic changes that play a role in its development, but they are not inherited from family members. Environmental factors, such as exposure to toxins, may play a role in sporadic ALS. Still, more research is needed to determine precisely how and what in the environment can cause someone to develop the disease.
Sporadic ALS is a fatal disease. Joining a support group and giving yourself time to adjust to the news, changes, and road ahead is the best way to cope with the disease so your quality of life can remain as good as possible.
A Word From Verywell
It can be hard to imagine what a person with a fatal condition like sporadic ALS must contend with. It can be debilitating mentally and physically. While there is little you can do about your diagnosis, getting treatment can help alleviate some of the symptoms of ALS.
Frequently Asked Questions
Is sporadic ALS the same as typical ALS?
Sporadic ALS presents with the same symptoms, prognosis, and consequences as typical, familial ALS. However, sporadic ALS differs from ALS in that it is not an inherited disease. It appears to develop at random.
How long can you live with sporadic ALS?
All ALS is fatal. However, the length of time people live after the diagnosis depends. Some people can live as long as five to 10 years. However, the average is 2.5 years.
What happens to your body with sporadic ALS?
People with sporadic ALS develop many symptoms that eventually hinder their ability to move, eat, or breathe independently. Because of that, they will eventually need constant care. It's important for people with ALS to have a strong support system and a caregiver.
Read the original article on Verywell Health.
