Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic lateral sclerosis is also known as ALS or Lou Gehrig’s disease. This is a disease of the nerve cells in the brain and spinal cord that control muscle movement. The experts at the Penn State ALS Clinic provide a definite diagnose and offer complete care that helps the person with ALS function as normally as possible and have a better quality of life.
- Care at Milton S. Hershey Medical Center
- Groups, Classes & Support
- Research & Clinical Trials
- Symptoms, Diagnosis & Outlook
Care at Milton S. Hershey Medical Center
Our clinic is recognized by the ALS Association as a Certified Treatment Center of Excellence that evaluates and treats ALS and related conditions. About 80 new patients with ALS are diagnosed at the center every year, and more than 230 are followed long-term at any given time.
What is ALS?
In ALS, the cells that control muscles, called motor neurons, waste away and no longer send messages to the muscles. Over time, this leads to the muscles getting weak. The arms, legs, mouth and tongue muscles stop working. When the muscles in the chest stop working, it becomes hard or impossible to breathe.
Causes of ALS
About one out of 10 cases of ALS are inherited because of a flaw in a family’s genes. Having a close family member with ALS raises the chances of having the disease. Other risks include military service and heavy contact with some pesticides (insect killers). In most cases, the cause isn’t known.
What to expect
Patients coming to us for the first time see a neurologist (nervous system doctor) who is an expert in ALS. The goal is to be as sure as possible about a diagnosis.
After doing a series of tests, the neurologist will make an appointment with you, your family and other caregivers to talk about the diagnosis. If you have ALS, the doctor will give information and talk about proven and trial treatments.
An ALS nurse specialist is often at that visit as well. If not, you’ll schedule a follow-up visit with a nurse specialist. The neurologist and nurse work with you and your family on a plan to treat the disease and manage symptoms.
Patients with ALS are seen about once every three months in our multidisciplinary clinic, which includes various specialists on our team. During these appointments, you and your family stay in one examining room for about three to four hours while the different team members meet with you.
At these visits, you will always have your weight and breathing capacity measured and see the neurologist and nurse. You will also see some or all of these team members:
- Physical therapist
- Occupational therapist
- Speech therapist
- Registered dietician
- Respiratory therapist
- Mental health specialist
- Social worker
- Pastoral care counselor
Which team members you will see during those visits is based on the issues you may be having at that time.
Working with the primary care doctor
Patients need to keep seeing their own primary care doctor while using the ALS Clinic's specialized services. After each ALS Clinic visit, your primary care doctor gets a written update from your neurologist and a summary of what the ALS team recommends.
Goals of the Penn State ALS Clinic
- Serve as a center to diagnose, treat and provide follow-up care to patients with ALS.
- Work with primary care doctors to treat the patient.
- Focus on special services for patients with ALS and related health problems.
- Take a team approach to help patients function to their best ability.
- Give each patient information about the disease process.
- Offer therapeutic drug trials.
- Keep patients and families aware of research, including research in our own Motor Neuron Disease Research Center.
Learn more about the ALS care team.
Groups, Classes & Support
We’re thankful for the support we receive from a variety of sources. Without them, the ALS Clinic couldn’t further its missions.
- The ALS Association Greater Philadelphia Chapter provides very important support in many ways. Our work with the chapter is key to providing services to our patients and their families and caregivers.
- The Paul and Harriet Campbell Fund for ALS Research provides generous funds to support ALS research at Penn State College of Medicine and Penn State Health.
- The ALS Association national office provides support for our clinical activities. We’ve received a number of ALSA Clinical Management Grants to support our ALS research.
- The Muscular Dystrophy Association also supports our clinic.
We gratefully recognize the many private donations we have received from our patients and their families and friends.
Would you like to support our efforts?
Donations to support the Penn State Health ALS Center can be made to The ALS Association Greater Philadelphia Chapter.
Or if you’d like to support our clinical or research work by making a donation directly to our Center, you can write a check payable to the Pennsylvania State University, ALS Clinic, and send it to:
Zachary Simmons, MD
Director, Penn State Health ALS Center
Penn State Health Milton S. Hershey Medical Center
Department of Neurology, EC 037
Research & Clinical Trials
We strongly believe that research into what causes ALS and other motor neuron diseases will be the key to more effective treatments and to a cure. We also believe that research can lead to a better understanding of what can help improve quality of life for patients with ALS and their families.
Penn State ALS Clinic and Research Center is funded by ALS Association Greater Philadelphia Chapter, Campbell Fund for ALS Research and many other individuals and groups.
We carry out our studies at several levels:
- Clinical trials of medicines that show promise for treating ALS
- Clinical research to improve the care and support of patients and their caregivers
- Basic science research on:
- Oxidative stress
- Iron metabolism
- Other causes that may explain how ALS develops
Inspired to Cure: Finding New Treatments for ALS
Clinical research faculty
Stephen Schiff, MD, PhD
Brush Chair Professor of Engineering
Professor, Department of Neurosurgery
Andrew Geronimo, PhD
Instructor, Department of Neurosurgery
Stephanie Felgoise, PhD
Professor and Vice-Chair, Department of Psychology
Philadelphia College of Osteopathic Medicine
Susan Walsh, RN, MSN, ACNS-BC
Regional Nurse Manager
ALS Association Greater Philadelphia Chapter
Anne Morris, MPH
Neuromuscular Research Project Manager
Basic science research faculty
James Connor, PhD
University Distinguished Professor
Vice-Chair, Department of Neurosurgery
James Broach, PhD
Chairman, Biochemistry and Molecular
Biology Director, Institute for Personalized Medicine
Clinical research studies at Penn State
Tocilizumab is Food and Drug Administration (FDA)-approved to treat refractory (resists treatment) moderate to severe rheumatoid arthritis. This medicine is delivered into the veins by monthly infusion. Our clinic is taking part in a multicenter, randomized, double-blind, placebo-controlled 16-week study that evaluates how safe and tolerable tocilizumab is for people who have sporadic ALS.
Tirasemtiv (formerly CK-2017357)
Tirasemtiv is meant to improve skeletal muscle function in diseases that are linked to muscular weakness or fatigue, including ALS, while not affecting the structure of the muscle itself. Our clinic is taking part in a multinational, double-blind, randomized, placebo-controlled study with tirasemtiv in patients with ALS. Both patients who are taking riluzole and those who are not will sign up for the study. The primary objective is to learn how well tirasemtiv works versus placebo on respiratory (breathing) function in patients with ALS.
Tongue Movement in Adults with Motor Speech Disorders
This study is directed by Dr. Jimin Lee, assistant professor of Communication Sciences & Disorders at Penn State. The goal is to identify key tongue movements that can increase listeners' understanding of speech production. To trace the movement, sensors will be attached on the participant’s lower lip, jaw, tongue and forehead. The participant will be asked to say a number of words and sentences at different speaking rates and loudness. Study visits can take place in Hershey, University Park, or in the participant’s home, based on location.
Motor Synergies in Neurological Disorders
The main purpose of this study is to examine changes in motor synergies (interactions) that are part of common neurological (nerve) disorders such as Parkinson's disease, ALS, stroke, olivo-ponto-cerebellar atrophy, essential tremor and multiple sclerosis. Patients and control subjects will be asked to perform simple motor tasks such as pressing, using a hand-held object, reaching, standing quietly, swaying and taking a step. Multi-digit (fingers or toes), multi-joint, and multi-muscle synergies (interactions) will be analyzed using the framework of the uncontrolled manifold hypothesis.
An Online Mindfulness Intervention for People with ALS and their Caregivers
The primary aim of this project is to create and test an online psychological treatment program based on the Langer Mindfulness construct. This is targeted to improve the quality of life for people with ALS and their caregivers.
Brain-Computer Interface Technology
Brain-computer interface (BCI) devices may be able to make the quality of life better for those living with ALS, and can help with basic forms of movement control and communication. Working closely with Dr. Steven Schiff and Dr. Andrew Geronimo, our research aims to show how the success of using BCI is made more difficult by the high level of disease heterogeneity, and how we can use engineering principles to adapt our systems to optimize BCI use for each user.
The Edinburgh Cognitive and Behavioral ALS Screen (ECAS)
The ECAS is a brief cognitive-behavioral assessment developed and validated by Dr. Sharon Abrahams and colleagues at the University of Edinburgh for use in patients with ALS. To date, however, the usefulness of the ECAS as a clinical tool, particularly within the setting of a multidisciplinary ALS clinic, has not yet been widely studied or evaluated. As a result, the ECAS has been adopted as a standard of care for patients seen in our clinic as a way to study and better understand how this assessment may help patients, families and health care professionals.
Outcomes of Diaphragm Pacing System Placement in ALS
Diaphragm pacing (DP) is an FDA-approved treatment for hypoventilation (very slow breathing) in ALS and appears to be reasonably safe in carefully selected patients. We have received Humanitarian Use Device Institutional Review Board (IRB) approval to place DP devices in patients with ALS who meet inclusion requirements for DP. Our hospital has been implanting DP devices in patients with ALS since January 2014. The goals of our research are to:
- Examine how the clinical markers of breathing capacity and function over time predict survival in ALS patients who have had a DP device implanted at the Hershey Medical Center.
- Evaluate the outcomes of ALS patients who receive the diaphragmatic pacer at our medical center.
Decomposition-Based Quantitative Electromyography (DQEMG)
The goal of this study is to learn if the quality of the amount of data provided by DQEMG facilitates, explains or changes clinical impressions obtained using standard needle EMG methods. This, if proven, would help the physicians clarify the clinical impression and would shorten the time to reach a diagnosis. This could lead to better patient care. Participants will be asked to have an EMG test with Dr. Divisha Raheja.
Quality of Life
We have a longstanding interest in quality of life (QOL) in patients with ALS. Our group has developed a QOL questionnaire made for those with ALS. It’s called the ALS-Specific Quality of Life Instrument-Revised, or ALSSQOL-R. The ALS-Specific Quality of Life-Revised (ALSSQOL-R) is available for free to those who would like to use it. View and download the ALSSQOL-R Manual.
We have recently constructed a short form of the tool (ALSSQOL-20) which includes 20 items. The ALSSQOL-20 was recently validated in a multicenter study. A manual will be available soon. View and download the ALSSQOL-20 tool.
We welcome collaboration from other ALS centers for projects using this instrument. Those interested in collaborating should contact Dr. Zachary Simmons at email@example.com.
We’re currently working with investigators in U.S. centers and international centers to understand QOL in patients with different cultural and ethnic backgrounds. We’ve recently constructed a short form of the tool (ALSSQOL-SF) which includes 18 items. We’re in the process of validating the ALSSQOL-SF in a multicenter study.
Turning Research into Practice
Evidence-Based Practice is a method of providing clinical care to patients by systematically incorporating solid research evidence with clinician expertise. This process has inspired several collaborative teams, made up of clinicians and researchers. Each group focuses on a particular aspect of patient care so we can better meet the needs of our patients. Topics include:
- Support for Caregivers – Download our ALS Caregiver Assessment
- ALS and Frontotemporal Dementia (FTD)
- Improving End of Life Care and Decision Making – Download the Communication and Treatment Preference Tool
Discovery of a Genetic Risk Factor for ALS
Under the leadership of Dr. James Connor, a potential genetic risk factor for ALS has been identified. Called the H63D HFE genetic variant, this is a variation of the hemochromatosis gene, a gene involved in iron metabolism, the immune system and inflammatory responses. Studies now support that the presence of the H63D HFE gene is a four-fold risk factor for ALS.
Understanding Cellular Stress and ALS
Studies to understand the relationship between H63D and cellular stress and between H63D and two other mutations known to be associated with ALS — TDP-43 and SOD1 — are in progress. Human cells that carry the H63D mutation have elevated levels of stress and mitochondrial dysfunction and alterations in glutamate metabolism and increased TDP-43 that are thought to contribute to ALS. These models will help us to understand the impact of the mutations on cell function and how the mutations combine to cause cell death, permitting the development of therapeutic strategies around that knowledge.
Genetics of ALS and other Motor Neuron Diseases
Since the creation of the Penn State Institute for Personalized Medicine, this game-changing medical model is driving opportunities for greater collaborations across the institution to advance medical science. In collaboration with Dr. James Broach, and with patient and family member consent, blood and/or saliva samples will be taken and used to conduct highly sophisticated genetic sequencing. The process will identify known or new genetic mutations that are associated with ALS.
To learn more about current clinical trials, visit StudyFinder.
Symptoms, Diagnosis & Outlook
Amyotrophic lateral sclerosis is also known as ALS or Lou Gehrig’s disease. This is a disease of the nerve cells in the brain and spinal cord that control muscle movement. The experts at The Penn State Hershey ALS Clinic provide a definite diagnose and offer complete care that helps the person with ALS function as normally as possible and have a better quality of life.
Symptoms usually don’t start until after age 50, but they can also start in younger people. People with ALS lose muscle strength and coordination over time. Weakness can first affect the arms or legs, or breathing and swallowing. This gets worse and eventually makes it impossible for them to do normal tasks like going up steps, getting out of a chair, or swallowing.
ALS doesn’t affect the senses (sight, smell, taste, hearing, touch). Most patients are able to think normally, although a small number have dementia, which causes problems with memory.
Signs that a person may have ALS
- Trouble breathing
- Trouble swallowing: choking easily, drooling or gagging
- Head drop due to weak neck muscles
- Muscle cramps
- Muscle stiffness, which is called spasticity
- Muscle twitching due to small contractions, which is called fasciculations
- Muscle weakness that starts in one body part, such as the arm or hand, and slowly gets worse until it leads to trouble with lifting, climbing stairs and walking
- Speech problems, such as a slow or strange speech pattern (slurring of words)
- Voice changes, hoarseness
- Weight loss
Causes & Risk Factors
Possible complications of ALS
- Breathing in food or fluid (aspiration)
- No longer able to care for self
- Respiratory (breathing) failure
- Pressure sores
- Weight loss
Over time, people with ALS can’t function and care for themselves. Death often occurs within three to five years after diagnosis. About one in five patients live for more than five years after they’re diagnosed. Some patients live much longer, but they may need help breathing from a ventilator or other device.
Patients have a complete examination and their past medical records are reviewed. Using that information, our neurologist orders various tests as needed. These tests may include:
Most patients will also have electrodiagnostic testing (EMG and nerve conduction tests) in our EMG laboratory. Other tests may include: