This article discusses the symptoms, causes, diagnosis, and treatment options for those who develop this disease.
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 atrophy 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
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.
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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:
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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).
Environment
Although research is still ongoing regarding environmental factors, sporadic ALS development can be influenced by:
ToxinsInfectious agentsVirusesPhysical traumaPoor 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:
MRI (magnetic resonance imaging) Nerve conduction study Blood and urine tests eliminate other diseases that could be causing similar symptoms Muscle biopsy to rule out other muscle diseases Electromyography
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) and Radicava (edaravone) are used to reduce damage to neurons and slow the progression of the disease, respectively. 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.
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.
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.
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.
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.
