ALS: Symptoms, Diagnosis, and Treatment

What Is Amyotrophic Lateral Sclerosis (ALS)?

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease or motor neuron disease (MND), is a neurodegenerative disease that leads to muscle weakness. The most common first sign is gradual, painless muscle weakness. There are more than 30,000 patients with ALS in the United States.

ALS is a progressive disease, meaning symptoms worsen over time. It may eventually affect your ability to breathe, talk, and swallow. While there’s currently no cure, treatments can help slow disease progression and manage symptoms.

The neurologists at the Sean M. Healey & AMG Center for ALS at Massachusetts General Hospital provide advanced, compassionate care for people affected by ALS. At our dedicated ALS center, you’ll find specialized services and support designed to help you, or someone you love, live with ALS as fully and comfortably as possible.

Call 617-724-3914 to schedule an appointment with a specialist at the Healey & AMG Center.

Symptoms of ALS

ALS comes on slowly and symptoms may seem mild at first, making them easy to overlook. Symptoms worsen as the disease progresses.

Early signs of ALS include:

• Muscle weakness in your arms or legs
• Clumsiness or trouble coordinating movements
• Drooling, choking, or difficulty swallowing
• Extreme fatigue
• Muscle cramps or stiffness
• Shortness of breath
• Unintentional weight loss
• Voice changes or speech problems, such as slurred speech

Types and Causes of ALS

Medical researchers are still trying to determine why some people develop ALS. We do know it’s linked to changes (mutation) in certain genes.

There are two types of ALS:

• Sporadic ALS: This is the most common form of ALS. Sporadic ALS occurs when there is no known genetic mutation or family history.
• Familial ALS: As many as 1 in 10 people with ALS have a relative who also has the disease or a known gene mutation causing ALS. This condition is known as familial ALS.

Risk Factors for ALS

Risk factors for ALS include:

• Age: ALS typically affects people who are 55 to 75 years old.
• Biological sex: Men often develop ALS at a younger age than women, but the risk becomes similar as people get older.
• Ethnicity and race: White and non-Hispanic people are more likely to have ALS.
• Military service: Members of the military are twice as likely to develop ALS, possibly because of exposure to environmental toxins during their service.

Diagnosis of ALS

There isn’t a specific blood test or other definitive diagnostic test for ALS, which makes the condition challenging to diagnose. However, an accurate and fast diagnosis is critical because ALS treatments are most effective during the early stage. Our ALS specialists have the clinical expertise to quickly pinpoint the cause of your symptoms.

These diagnostic tests may be ordered to help your provider make a diagnosis and rule out conditions that cause similar symptoms:

• Neurological exam, to test muscle strength and reflexes
• Blood tests, to diagnose or rule out other neurological disorders
• Electromyography (EMG) and nerve conduction studies, to see how mild electrical impulses travel through nerves to muscles and to assess how muscles and nerves work together
• Genetic testing, to look for specific gene changes present in familial ALS
• Neuroimaging tests, such as MRIs, to identify brain changes
• Spinal tap (lumbar puncture), to test spinal cord fluid for signs of disease

Treatment of ALS

While ALS does not yet have a cure, ALS treatments can slow down the disease and ease symptoms, helping to provide a better quality of life. Our internationally recognized Healey & AMG Center brings together all the treatments and specialists you need in one convenient location.

ALS Medications

These medications treat ALS:

• Riluzole, an oral medication that minimizes motor neuron damage
• Edaravone, an oral or IV antioxidant that slows the decline of muscle function
• Tofersen, a spinal injection that may decrease motor neuron damage in people who have an SOD1 gene mutation

You may also receive medication to manage related ALS symptoms.

ALS Therapies

Rehabilitative therapies can help you maintain independence, mobility, and comfort. We offer comprehensive therapies for ALS, including:

• Physical therapy, to improve flexibility, mobility, and muscle tone
• Occupational therapy, to equip you with assistive devices that aid daily living
• Speech therapy, to help with speech, swallowing, and breathing difficulties

ALS Nutritional Support

Our nutrition specialists help make sure you get the nourishment you need to stay strong. They can recommend nutritious foods that are easier to chew and swallow, provide customized meal plans, and assist you when swallowing becomes difficult. When needed, our specialists help you transition to a feeding tube.

ALS Respiratory Support

Over time, ALS weakens the diaphragm muscles that help you breathe. You may need breathing support. Our respiratory therapists offer solutions such as noninvasive ventilation, which provides gentle breathing support through a mask worn over your mouth and nose.

ALS Clinical Trials

The Healey & AMG Center is a recognized leader in ALS research and clinical trials. We offer the nation’s largest hospital-based research program for ALS, with more than 100 active clinical trials, observational studies, and laboratory projects currently underway.

Our team leads the groundbreaking HEALEY ALS Platform Trial initiative, in collaboration with the Northeast ALS (NEALS) Consortium, patients, researchers, industry, foundations, and other fundraising initiatives.

The HEALEY ALS Platform Trial enables the testing of multiple drug therapies at once, helping to find safe, effective ALS treatments faster. As a patient, you may have the opportunity to participate and gain access to cutting-edge therapies still under development.

FAQs About ALS