Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons—those responsible for voluntary movements. Over time, it leads to muscle weakness, motor difficulties, and eventually paralysis.
ALS gained public attention after affecting well-known figures such as physicist Stephen Hawking, but it remains a rare condition with no known cure and a significant impact on the quality of life of patients and their families.
What Is Amyotrophic Lateral Sclerosis?
ALS is a disease that damages upper motor neurons (in the brain) and lower motor neurons (in the spinal cord), which are responsible for sending signals to muscles. As these neurons progressively die, muscles weaken and atrophy, making it difficult to perform simple actions like walking, speaking, swallowing, and eventually breathing.
Although cognitive functions are preserved in most cases, ALS can have a major physical and emotional impact.
What Are the Symptoms of ALS?
ALS symptoms vary depending on the muscle groups initially affected but tend to worsen over time. The main signs include:
Muscle weakness in arms or legs (often asymmetrical at first)
Fasciculations (small involuntary muscle twitches visible under the skin)
Difficulty gripping objects, climbing stairs, or walking
Muscle stiffness or spasticity
Changes in speech (slurred or slow speech)
Difficulty swallowing (dysphagia)
Weight loss and visible muscle atrophy
Frequent cramps
In advanced stages, respiratory impairment
It’s important to note that ALS does not typically affect the senses (vision, hearing, touch), bladder or bowel control, or cognitive function in most patients.
What Causes ALS?
Most ALS cases are considered sporadic, meaning they occur without an apparent hereditary cause. However, around 5–10% of cases are familial, involving known genetic mutations.
Associated factors include:
Mutations in genes such as SOD1, C9orf72, and others
Oxidative stress and excitotoxicity (damage to neurons from excess glutamate)
Chronic inflammation and mitochondrial dysfunction
While no single cause has been identified, ALS is believed to result from a combination of genetic and environmental factors that trigger motor neuron degeneration.
How Is ALS Diagnosed?
There is no specific test to definitively diagnose ALS. Diagnosis is clinical and based on ruling out other conditions and identifying characteristic signs.
Common diagnostic steps include:
Comprehensive neurological examination
Electromyography (EMG): measures electrical activity in muscles
MRI of the brain and cervical spine: rules out other neurological causes
Blood tests and cerebrospinal fluid analysis: to exclude infections, autoimmune, or metabolic diseases
Genetic testing when familial ALS is suspected
Early diagnosis is crucial to begin treatment and provide proper support.
Is There a Treatment for ALS?
There is currently no cure for ALS, but there are therapies that can help slow progression, relieve symptoms, and improve quality of life.
Available treatments include:
Riluzole: slows disease progression by reducing glutamate release
Edaravone: an antioxidant approved in some countries that may delay functional decline
Non-invasive ventilation (NIV): improves breathing and comfort
Speech therapy: to support communication and swallowing
Physical and occupational therapy: to maintain mobility and prevent complications
Proper nutrition, including feeding tubes in advanced stages
Palliative care and emotional support: essential for patient and family well-being
Participation in clinical trials is also an option for some patients.
Prognosis
ALS is a progressive disease and, unfortunately, life expectancy after diagnosis typically ranges from 3 to 5 years, though some patients live more than a decade—especially with proper care and support.
Despite the severity, many patients can maintain an active and dignified life for a significant period with the help of a multidisciplinary team.
Final Thoughts
Amyotrophic Lateral Sclerosis is a complex condition that presents challenges for doctors, patients, and caregivers. Early diagnosis, specialized care, and physical and emotional support are essential for ensuring the best possible quality of life.
Research continues to advance, and there is hope for more effective treatments in the future.
