Disease of Nerve Cells That Cause Movement

Amyotrophic lateral sclerosis is also known as ALS or Lou Gehrig’s disease. It is a disease of the nerve cells in the brain and spinal cord that control muscle movement. In a person with 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 may all be affected. If the muscles of the chest and diaphragm weaken, it becomes hard or impossible to breathe. The experts at Penn State Health Milton S. Hershey Medical Center ALS Clinic provide a definite diagnose and offer complete care that helps a person with ALS function as normally as possible and have a better quality of life.

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 may all be affected. If the muscles of the chest and diaphragm weaken, it becomes hard or impossible to breathe.

Causes of ALS

About one out of 10 cases of ALS are inherited. 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 we’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.

Follow-up visits

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 dietitian 
  • Mental health specialist
  • Social worker
  • Pastoral care counselor

The team members you will see during those visits depends on your specific needs. 

Working with the primary care doctor

Patients should continue seeing their 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, including 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 and opportunities to become involved in other research.

ALS Symptoms and Diagnosis

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 Penn State Health Milton S. Hershey Medical Center 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.

While, in most cases, the cause isn’t known, about one in 10 cases of ALS is inherited. Risk factors include:

  • Having a close family member with ALS
  • Military service
  • Heavy contact with some pesticides

Symptoms

Symptoms of ALS usually don’t begin until after age 50, but they can also occur 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 difficult or impossible to perform normal tasks, like climbing stairs, getting out of a chair, swallowing or breathing.

ALS doesn’t affect the senses of sight, smell, taste, hearing and touch. Most patients are able to think normally, although a small number have dementia, which causes problems with thinking or changes in behavior.

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 different speech pattern (slurring of words, hoarseness)
  • Weight loss

Causes and Risk Factors

Possible complications of ALS:

  • Breathing food or fluid into the windpipe (aspiration)
  • No longer able to care for self
  • Respiratory (breathing) failure
  • Pneumonia
  • Pressure sores
  • Weight loss

If you suspect you have ALS, you will see a specialist called a neurologist, who is an expert in the diagnosis and treatment of nervous system diseases like ALS.

Diagnosis

The neurologist will perform a complete examination and review your medical history. Using that information, your specialist will order diagnostic tests, which may include:

  • Studies of blood and urine
  • X-rays
  • Computed tomography (CT) scans
  • Magnetic resonance imaging (MRI)

 Most patients will also have electrodiagnostic testing (EMG and nerve conduction tests) in our EMG laboratory. Other tests may include:

  • Lumbar puncture (spinal tap)
  • Muscle biopsy
  • Nerve biopsy

After tests are complete, the neurologist will make an appointment with you, your family and any other caregivers to talk about the diagnosis. If you have ALS, the doctor will give you information about your treatment plan, including 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 ALS clinic, which includes a team of specialists skilled in the treatment of this disease. 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.

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.

  • Mental health specialist
  • Occupational therapist
  • Pastoral care counselor
  • Physical therapist
  • Registered dietitian 
  • Social worker
  • Speech therapist

The team members you will see during those visits depend on your specific needs. 

Patients should continue seeing their 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, including a summary of what the ALS team recommends.

Over time, most people with ALS can’t function and care for themselves. Death often occurs within two to five years after diagnosis, but this timeframe can vary. About one in five patients lives for more than five years after being diagnosed. Some patients live much longer, but they may need help breathing from a ventilator or other device.

Experts in Care

Meet our doctors, view their profiles and select the one that’s right for you.

Find a doctor near you

If you have ALS, the multidisciplinary team of experts at Penn State Health provides comprehensive care to address every aspect of your condition and reduce its impact on your quality of life.

Our Penn State ALS Clinic is recognized by the ALS Association as a Certified Treatment Center of Excellence that evaluates and treats ALS and related conditions. At the clinic, we:

  • Focus on special services for patients with ALS and related health problems
  • Give each patient information about the disease process
  • Offer therapeutic drug trials and opportunities to become involved in other research
  • Serve as a center to diagnose, treat and provide follow-up care to patients with ALS
  • Take a team approach to help patients function to their best ability
  • Work with primary care doctors to treat the patient

ALS OnDemand Appointment

Why Choose Penn State Health for Care

Compassionate, Comprehensive Care

We’ve been recognized by U.S. News and World Report as a high-performing specialty for consecutive years. Our medical team is consistently recognized nationally through Best Doctors in America and America’s Top Doctors awards. Our specialists also participate in worldwide conferences and speaking engagements in countries including India, Korea, Germany, Japan and others.

Telemedicine Program

In March 2015, our center launched a telemedicine program for people with ALS and their families. This program allows us to stay connected with our ALS patients, even when they can’t travel. Telemedicine visits occur through secure video conferencing over the internet between one or more health care providers at Penn State Health Milton S. Hershey Medical Center and a patient and his or her family and caregivers in their home. You can find more information on telemedicine visits for ALS here.

Research and 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 a cure. We also believe that research can lead to a better understanding of the factors that maintain and improve quality of life for patients with ALS and their families, permitting the development of optimal care.

The Penn State ALS Clinic and Research Center is funded by the ALS Association Greater Philadelphia Chapter and by private donations from many individuals and groups.

We carry out our studies at two levels:

  • Clinical trials of medicines that show promise for treating ALS
  • Clinical research to improve the care and support of patients and their caregivers

Clinical Research Faculty and Staff

Zachary Simmons, MD
Professor, Departments of Neurology and Humanities
Director, ALS Center

Andrew Geronimo, PhD
Assistant Professor, Department of Neurosurgery

James Grogan, MD, MS
Assistant Professor, Department of Neurology

Mansoureh Mamarabadi, MD
Assistant Professor, Department of Neurology

Xiaowei Su, MD, PhD
Fellow in neuromuscular medicine, Department of Neurology

Ji Min Lee, PhD, CCC-SLP
Associate Professor, Department of Communication Sciences and Disorders

Aarthi Madhavan, PhD, CCC-SLP
Assistant Professor, Department of Communication Sciences and Disorders

Stephanie Felgoise, PhD
Professor and Chair, Department of Psychology
Philadelphia College of Osteopathic Medicine

Susan Walsh, RN, MSN, ACNS-BC
Director of Clinical Services
ALS Association Greater Philadelphia Chapter

Anne Haulman, MPH, CCRC, ACRP-PM
Neuromuscular Research Project Manage

Clinical Trials at Penn State Health

For more information about our clinical trials, please contact our Research Project Manager, Anne Haulman, at 717-531-0003, x289123, or email ahaulman@pennstatehealth.psu.edu.

HEALEY Platform Trial

The HEALEY Platform trial is the first platform trial for individuals with ALS. Platform trials test multiple investigational drugs at the same time, and new regimens can also be added when they become available. This minimizes start-up and execution times compared to independent trials for each drug. Because multiple drugs are tested against the same placebo group, there is a higher chance that an individual will receive an active drug compared to a placebo. Currently, three novel drugs are being tested at more than 50 centers across the United States. This study is actively recruiting patients at our center.

Oral Edaravone Trial

Edaravone (sold under the brand name Radicava) is an antioxidant drug approved by the Food and Drug Administration (FDA) for ALS and may slow disease progression in certain individuals. Currently, it must be administered intravenously via a peripherally inserted indwelling catheter (port) that requires specialized care. The oral edaravone trials assess safety and efficacy of an oral formulation of the medication for individuals with ALS. The first trial is currently closed to enrollment. However, we anticipate additional studies in the future, and potentially eligible patients will be informed as more opportunities open.

TAME Trial

The Therapy in Amyotrophic Lateral Sclerosis (TAME) trial studies the effect of memantine, a drug currently used for slowing cognitive decline in patients with dementia. Enrollment of new patients is closed, but patients already enrolled are being followed up. While there is ongoing data analysis, no results are available yet.

Other Clinical Studies at Penn State Health

For more information about our studies, please contact our Research Project Manager, Anne Haulman, at 717-531-0003, x289123, or email ahaulman@pennstatehealth.psu.edu.

Telemedicine Program

In March 2015, our center launched a telemedicine program for people with ALS and their family/caregivers. This program allows us to stay connected with our ALS patients, even when they can’t travel. Telemedicine visits use secure video conferencing over the internet between one or more health care providers in Hershey and a patient and caregivers in their home. We periodically conduct studies to determine the value of this for our patients and their caregivers, as part of our efforts to provide the best possible care.

Telemonitoring Program

We are interested in discovering how remote monitoring technologies can be used to enhance telemedicine to meet or exceed our standard of care practices. This includes the use of smartphones and sensors to track activity, gait, breathing, speech and more. These studies are at varying stages of enrollment and data analysis. We welcome inquiries and questions.

Brain-Computer Interface Technology

Brain-computer interface (BCI) devices may be able to improve quality of life for those living with ALS by facilitating basic forms of movement control and communication. Our research uses engineering principles to optimize BCI systems for use by each individual.

EAT-10

For many patients with ALS, difficulty swallowing leads to risk of aspiration and alterations in diet that can result in poor nutrition and worsening weakness. The EAT-10 tool is a survey designed to assess swallowing safety, function and its impact on diet and nutrition. We are studying its use in patients with ALS to guide their food choices and decision-making.

Enhancing Speech Communication

Most people with ALS experience speech difficulties, and this substantially impacts their quality of life. There is a critical need to develop active interventions that maximally preserve speech communication. Dr. Ji Min Lee conducts research on evidence-based interventions to improve speech intelligibility (how understandable speech is), including movement modifications and improving interactions between speakers with ALS and listeners.

Quality of Life

We have a longstanding interest in quality of life (QOL) in patients with ALS. Our group has developed QOL questionnaires made for those with ALS, including the ALS-Specific Quality of Life Instrument-Revised, or ALSSQOL-R, and a validated, abbreviated format called the ALSSQOL-SF (short form), which includes 20 items. View and download these tools here:

Additional information about the ALSSQOL-SF has been published (Muscle Nerve 2018;58:646-654).

The ALSSQOL and its shorter versions are available for use free of charge. We welcome collaboration from other ALS centers for projects using this instrument. Those interested in collaborating should contact Dr. Zachary Simmons at zsimmons@psu.edu.

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 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:

More Information on Clinical Trials

  • StudyFinder for studies being done at Penn State
  • NEALS website for a curated list of trials maintained by the Northeast ALS Consortium
  • ClinicalTrials.gov for a comprehensive repository of trials worldwide, maintained by the United States National Library of Medicine

Support Groups

We’re thankful for the support we receive from a variety of sources. Without them, the ALS Clinic couldn’t further its missions.

Learn more about other support groups that are offered

Convenient Locations

Find the care your family needs, close to home, at one of our many locations throughout central Pennsylvania.

Find a location near you