Amyotrophic Lateral Sclerosis (ALS), Lou Gehrig's Disease

What is amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease?

Amyotrophic lateral sclerosis (ALS), also called Lou Gehrig's disease, is a progressive neuromuscular disease that gradually leads to the loss of muscle movement and paralysis. While there is no cure for ALS, our expert, compassionate team works with you to find treatments that can prolong your ALS life expectancy and improve your quality of life.

AHN ALS Certified Treatment Center of Excellence

The ALS Center at AHN Neuroscience Institute offers the most effective therapies in treating ALS, provided by experienced, caring specialists. Our ALS Center is recognized as a Certified Treatment Center of Excellence by the ALS Association and its western Pennsylvania chapter — the only center in western Pennsylvania to earn this designation.

Why choose AHN to care for your amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease

Patients and families choose AHN for our:

• Neuromuscular expertise: Our specialists are highly regarded nationally for their expertise in neuromuscular disorders. For more than two decades, our ALS Center has helped hundreds of patients maximize their abilities, experience symptom relief, and live longer lives.
• Team approach: At AHN’s ALS Center, physicians work closely with respiratory and other therapists, nutrition experts, and mental health specialists to address all your needs — in one place.
• Novel therapies: At AHN, you have access to a range of therapies, including new medications, before they are widely available. We were one of the first health systems in the United States to offer patients the new treatment Radicava®*, an intravenous (IV) medication.
• Coordinated care: Dedicated team members help you navigate health insurance authorization programs so you can start benefiting from new therapies sooner. And when a medication requires in-home support, we send caring nurses to your home to monitor your health and provide support.
• Extensive support services: Our mental health specialists help patients and their families develop coping strategies to deal with the emotional challenges of ALS. We can also coordinate resources to make a patient’s home handicap accessible.

Find us

ALS Certified Treatment Center of Excellence
320 E. North Ave, Hemlock Bldg. 3rd Floor
Pittsburgh, PA  15212
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Quick guide to amyotrophic lateral sclerosis (ALS), Lou Gehrig's Disease

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease symptoms and signs

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease screening and diagnosis

Types and stages of amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease treatment

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease FAQs

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Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease symptoms and signs

ALS symptoms and signs depend on which parts of the nervous system are affected. Symptoms worsen over time and may include:

• Muscle weakness in one or both hands, arms, legs, or feet
• Muscle stiffness or tightness (called spasticity)
• Trouble using hands for everyday activities, such as holding an item 
• Problems chewing, swallowing, or breathing
• Shortness of breath
• Slurred speech
• Paralysis

Causes and risk factors

While these are not direct causes, certain factors have been consistently studied as potential risk factors for developing sporadic ALS:

• Age: The risk of ALS increases with age, most commonly developing between 40 and 70, though it can occur at younger or older ages.
• Sex: Before age 65, those assigned male at birth are slightly more likely to develop ALS. This difference diminishes after age 70.
• Genetics: Even in sporadic cases, having a close relative with ALS or another neurological condition called frontotemporal dementia (FTD) can slightly increase your risk, suggesting a genetic predisposition even without a known familial mutation.
• Environmental factors (under investigation): Researchers are actively exploring several environmental factors, like smoking and head injuries, though none have been definitively proven as direct causes.

It's important to stress that for sporadic ALS, having one of these risk factors does not mean a person will get ALS, and many people with ALS have none of these identifiable risk factors. Research continues to better understand this complex disease and ALS life expectancies.

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease screening and diagnosis

At AHN, we use the latest tests to provide you with a precise diagnosis. After performing a thorough physical examination, your physician may recommend one or more tests, including:

• Electromyogram (EMG): This test measures the electrical activity of muscles.
• Nerve conduction studies: A nerve conduction velocity test measures the nerves’ ability to send electrical signals. We often perform it along with an EMG to help determine whether the symptoms are related to your nerves or muscles.
• Magnetic resonance imaging (MRI): This imaging scan uses powerful magnets to produce detailed images of internal organs and structures. Physicians may use this test to look for other causes of your symptoms.
• Lumbar puncture: This test, also called a spinal tap, evaluates the cerebrospinal fluid surrounding your brain and spinal cord. We insert a needle into your lumbar area (small of your back) to remove the fluid.
• Blood tests: Blood tests can help physicians rule out other diseases or conditions.
• Genetic tests: These tests look for certain genetic mutations, which can determine whether a condition is inherited (passed down through your family).

Types and stages of amyotrophic lateral sclerosis (ALS), Lou Gehrig's Disease

Amyotrophic Lateral Sclerosis (ALS), often known as Lou Gehrig's Disease, is a complex condition. There are different forms based on its cause or how it presents, and its progression is generally described in stages.

Types of ALS

ALS is primarily classified by its origin — what caused it and where it came from.

Sporadic ALS (sALS)

This is the most common form, accounting for about 90–95% of all ALS cases. It means the disease develops without a known family history or clear genetic cause. Researchers believe a combination of genetic and environmental factors likely plays a role, but the exact cause remains unknown.

Familial ALS (fALS)

This form accounts for about 5–10% of cases. It's inherited, meaning there's a genetic mutation passed down through families. If you have familial ALS, there's a higher chance a parent, sibling, or child also has or will develop the disease. Several genes have been identified that can cause fALS, with C9orf72, SOD1, TARDBP, and FUS being among the most common.

Guamanian ALS

This is a historically recognized variant found in Guam and the Kii Peninsula of Japan. It often combines features of ALS, Parkinsonism, and dementia. The cause is thought to be related to environmental factors, possibly toxins from local plants, rather than a genetic inheritance. However, its prevalence has significantly decreased over time.

Stages of ALS progression

ALS is a progressive disease, meaning symptoms worsen over time. While there isn't a universally accepted, rigid staging system, the progression is generally understood in three phases.

Early stage

Patients notice subtle signs of ALS, like muscle weakness, twitching (fasciculations), cramping, or stiffness. They might stumble more often, drop things, or have slight difficulty with speech or swallowing. Symptoms are often confined to one limb or the bulbar region. Most people are still able to perform daily activities without significant help.

Middle stage

Muscle weakness and wasting become more noticeable and spread to other parts of the body. Walking, using arms, speaking, and swallowing become more challenging. Patients may start to need assistive devices like canes, walkers, or wheelchairs. Communication aids might be introduced. Breathing muscles may start to weaken, leading to shortness of breath, especially when lying down or during exertion. Difficulty swallowing can lead to poor nutrition and weight loss.

Late (advanced) stage

Most voluntary muscles are severely affected or paralyzed. Patients typically lose the ability to walk, stand, and use their arms and hands. They become dependent on caregivers for most daily activities. Speech may become unintelligible or impossible, requiring alternative communication methods (e.g., eye-gaze technology). Swallowing becomes extremely difficult, often requiring a feeding tube (gastrostomy) for nutrition and hydration. Breathing muscles are severely weakened, leading to chronic respiratory insufficiency. Most patients require noninvasive or invasive ventilation (a breathing machine) to assist with breathing.

Remember, ALS affects everyone differently. Your AHN care team will always work to manage your symptoms and support you.

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease treatment

We will support you through the physical and emotional challenges this condition presents, tailoring your ALS treatment options and care plan to your circumstances.

Your ALS treatment plan may include:

• Medication: Certain medications, such as recently approved Radicava™, may slow the disease’s progression. If we recommend this treatment for you, we’ll help you coordinate the support services so you can receive it at home from an experienced nurse.
• Respiratory support: Our physicians provide respiratory support by using a bilevel positive airway pressure (BiPAP) machine, a noninvasive therapy often used to treat sleep apnea.
• Physical and occupational therapy: Our trained physical and occupational therapists help you extend your functional abilities so you can move more easily and complete routine tasks.
• Nutrition supplementation: When the disease process makes swallowing difficult, a feeding tube can provide nourishment.

Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease FAQs

An ALS diagnosis is likely to bring about emotions and perhaps concerns. Whether you are wondering about ALS symptoms, ALS treatment options, or the signs of ALS, AHN is here to help.

Your AHN care team will be available to support you both in your treatment and in the emotional aspects of your care. That starts with having the information you need, from a reliable source. Patients often have a variety of questions, and your care team will be able to help get yours answered.

In the meantime, we’ve included a couple of the most frequently asked questions to help you get started.

How do you get ALS?

For the vast majority of patients, ALS develops randomly. It’s called sporadic ALS. There isn’t a clear, single reason or any trigger that can be identified. Research believes that it is likely a combination of:

• Genetic predisposition: While not familial (passed down from parents), certain genetic variations might make some individuals more susceptible to developing ALS.
• Lifestyle factors: Diet, physical activity, and other lifestyle choices are also areas of ongoing research.
• Oxidative stress: Damage to cells from unstable molecules.
• Mitochondrial dysfunction: Problems with the mitochondria, the powerhouse of the cells.
• Protein misfolding and aggregation: This means an abnormal accumulation of proteins occurs within the cells.
• Neuroinflammation: Inflammation in the brain and spinal cord.

Is ALS hereditary?

In 5–10% of cases, ALS is hereditary. It's called familial ALS (fALS). In these instances, it’s often caused by a specific genetic mutation that is passed down through families. 

Contact us

To schedule an appointment or learn more about services at the AHN ALS Certified Treatment Center of Excellence, call 412-359-8892.

If you're an existing patient, you can also call (412) DOCTORS 412-362-8677 in Pittsburgh or request an appointment with AHN neuroscience services.