What is ALS?
Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord.
Motor neurons are the nerve cells responsible for sending signals from the brain to the muscles, allowing voluntary movements such as walking, speaking, swallowing, and breathing.
As ALS progresses, motor neurons degenerate and die. When these nerve cells stop working, muscles no longer receive signals to move. Over time, muscles weaken, shrink (atrophy), and eventually become paralyzed.
ALS is always progressive, meaning symptoms worsen over time. While there is currently no cure, treatment, clinical care, and supportive therapies can help manage symptoms and improve quality of life.
What Does “Amyotrophic Lateral Sclerosis” Mean?
The name describes the disease process:
- A- = no
- Myo = muscle
- Trophic = nourishment
- “No muscle nourishment,” meaning muscles waste away (atrophy).
- Lateral refers to the areas of the spinal cord where motor neurons controlling muscles are located.
- Sclerosis means hardening or scarring.
Together, the term refers to the degeneration and scarring of motor neurons that leads to progressive muscle wasting.
What Causes ALS?
The exact cause of ALS is not fully understood. Researchers believe the disease may result from a combination of genetic and environmental factors.
There are two main types of ALS:
- Sporadic ALS – The most common form (about 90% of cases), occurring without a known family history.
- Familial ALS – About 10% of cases are inherited and caused by gene mutations passed down in families.
Ongoing research continues to explore potential risk factors, including genetics, environmental exposures, and cellular changes that damage motor neurons.
Early Signs and Symptoms of ALS
Early ALS symptoms can vary from person to person. They often begin gradually and may be mistaken for other conditions.
Limb-Onset ALS
- Weakness in one arm or leg
- Difficulty walking or frequent tripping
- Trouble with fine motor skills (buttoning shirts, writing)
- Muscle cramps and twitching
Bulbar-Onset ALS
- Slurred or nasal speech
- Difficulty swallowing (dysphagia)
- Changes in voice quality
- Emotional lability (uncontrollable laughing or crying) in some individuals
- Potential cognitive or behavioral changes in some individuals
As the disease advances, individuals may experience increasing paralysis and may require assistive devices for mobility, communication, and breathing support.
How Is ALS Diagnosed?
There is no single test for ALS. Diagnosis typically involves:
- Electrodiagnostic tests including electomyography (EMG) and nerve conduction velocity (NCV)
- Blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals
- Spinal tap
- X-rays, including magnetic resonance imaging (MRI)
- Myelogram of cervical spine
- Muscle and/or nerve biopsy
- A thorough neurological examination
Because symptoms overlap with other neuromuscular diseases, diagnosis may take time and requires evaluation by a neurologist.
Learn more about Symptoms and Diagnosis
ALS Facts and Statistics
- More than 5,000 people in the United States are diagnosed with ALS each year
- The average life expectancy is 2–5 years from symptom onset, though some individuals live much longer
- Approximately 10% of ALS cases are inherited
- ALS affects people of all races, ethnicities, and backgrounds
Is There Treatment for ALS?
Although there is no cure for ALS, treatments are available to help manage symptoms and slow disease progression in some individuals. Comprehensive, multidisciplinary care, including neurologists, respiratory therapists, physical and occupational therapists, speech-language pathologists, and nutrition specialists, has been shown to improve quality of life.
Assistive technologies such as mobility devices, feeding tubes, and communication systems can help individuals maintain independence and connection.
Learn More About ALS and Genetics
About 1 in 10 cases of ALS are linked to inherited gene mutations. Genetic counseling and testing may help individuals and families better understand their risk and available options.
Watch the video below to hear from medical experts about ALS and genetics.
In this educational video, Ellie Harrington, a genetic counselor at Columbia University Medical Center, explains the role of genetics in ALS, distinguishing between sporadic ALS (about 90% of cases) and familial ALS (about 10%), which is typically caused by a single inherited gene mutation. She highlights that many ALS-related genes follow an autosomal dominant inheritance pattern with variable penetrance, meaning not everyone who inherits a mutation will develop symptoms; the most common genetic causes involve the C9orf72 and SOD1 genes. The discussion also covers emerging antisense oligonucleotide (ASO) therapies, considerations for genetic testing, and how testing can inform diagnosis, family risk, and clinical trial eligibility.
Coping Strategies for Patients and Families
An ALS diagnosis can feel overwhelming. You don’t have to face it alone. Support, guidance, and resources are available to help you and your loved ones every step of the way.
Helpful strategies include:
- Early care planning and open communication
- Counseling or mental health support
- Peer support groups
- Respite care for caregivers
- Connecting with local ALS organizations
Building a strong support system can help individuals and families navigate emotional, physical, and practical challenges.
Learn More About ALS United Mid-Atlantic Resource Groups
About ALS United Mid-Atlantic
ALS United Mid-Atlantic provides comprehensive care services, advocacy, and research support for people living with ALS and their families. If you or a loved one has been diagnosed with ALS, our team is here to help you navigate care, resources, and support programs.
According to the American Academy of Neurology's Practice Parameter Update, studies have shown that participation in a multidisciplinary ALS clinic may prolong survival and improve quality of life.