Amyotrophic lateral sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that impacts the nerve cells that control voluntary muscle movement in the brain, brain stem, and spinal cord. This disorder, often referred to as Lou Gehrig’s disease in memory of the baseball player who was diagnosed with ALS, gradually weakens muscles over time, affecting physical functions throughout the body.  

ALS affects individuals across various age groups, races, and ethnicities. Most diagnoses of ALS occur in individuals between 40 and 70 years of age. ALS can appear at a younger age but the risk for ALS generally increases with age.  

There’s currently no cure for ALS. However, some treatments have been shown to slow progression of the disease. Your Penn Medicine care team is dedicated to helping you navigate your care journey with ALS to ensure you have the best possible outcome and quality of life.

ALS manifests in two primary types:   

• Sporadic ALS: This is the most common form of ALS. It makes up 90 to 95 percent of all cases. In sporadic ALS, the disease arises randomly, without any apparent cause or family history, making it challenging to identify specific risk factors.  
• Familial ALS: In roughly five to 10 percent of all cases, this form of ALS is believed to be passed down through families. Also known as genetic ALS, it results from inheriting ALS disease from one or both parents.  

ALS symptoms vary from person to person. In general, symptoms of ALS emerge gradually. Initial symptoms include: 

• Difficulty walking 
• Fatigue 
• Loss of motor control in hands and arms 
• Muscle cramping, stiffness, or twitching 
• Tripping 
• Uncontrollable laughing or crying 
• Weakness in limbs, hands, or feet 

As the disease advances, other symptoms may occur, including: 

• Difficulty breathing due to weakened chest and lung muscles 
• Issues with swallowing (leading to potential complications like pneumonia) 
• Paralysis (that spreads slowly and gradually throughout the body) 

Despite these symptoms, ALS does not cause pain. It typically does not affect bladder control, the ability to think or process thoughts, or senses such as taste, smell, touch, and hearing.

ALS may manifest neurological conditions and behavioral changes that can be mistaken for anxiety symptoms, but depression and anxiety are common among those with ALS. Anxiety symptoms are typically exacerbated by the stress of an anticipated shorter life span and concerns about physical changes.  

The progression of ALS and its impact on health may naturally induce anxiety, including feelings of fear, dread, and uneasiness that may lead to stress, panic attacks, and social isolation. Given the complex interplay of physical and mental challenges in ALS, it’s important to seek a professional diagnosis to properly differentiate ALS-related symptoms from those associated with anxiety disorders. 

The exact cause of ALS is unknown. Some cases of ALS have been found to run in families due to specific genes. Researchers also believe environmental factors such as exposure to toxins, heavy metals, or smoking, and military service may increase the risk of developing ALS. Most cases of ALS, however, occur without a clear reason. Researchers at Penn Medicine are working diligently to better understand any potential underlying causes of the disease. 

In the initial stages of ALS, individuals often maintain a level of independence, but as the disease progresses, home care may become necessary. Families facing an ALS diagnosis may eventually enlist the support of a home care aide or agency to assist with the evolving challenges associated with tasks like dressing, eating, and communication, ultimately alleviating the strain on family caregivers.  

As ALS impacts mobility, swallowing, and breathing, the support of home care becomes increasingly important and may involve the use of mobility aids, voice banking devices for effective communication, and non-invasive ventilation to support respiratory functions. If you choose to live at home, your Penn Medicine care team will work with you and your family to help make informed decisions about your living conditions as your ALS progresses. 

At Penn Medicine, we offer a wide range of ALS treatments including medications to treat your symptoms; occupational, physical and speech therapy to enhance your well-being and independence; and genetic counseling to support you in understanding your unique genetic make-up and the role your genes play in your diagnosis. We emphasize personalized care, meaning our multidisciplinary team of nurses, neurologists, physical therapists, occupational therapists, speech and language pathologists, and dieticians, will all work together to craft a treatment plan that is tailored to your unique needs. Our researchers are actively studying the potential causes of ALS to better understand how to treat and slow progression of the disease. With a focus on enhancing neurological function and quality of life, our specialists aim to give you the best possible care, designed just for you.