What is ALS?
ALS is a rare, progressive disorder characterized by the loss of motor neurons. Motor neurons are nerve cells that enable muscle movement. These neurons are located in the brain and spinal cord. The motor neurons that reside in the brain are called UPPER motor neurons, while those found in the spinal cord are the LOWER motor neurons. The loss of upper motor neurons results in muscle stiffness, as well as slow movements and loss of fine motor dexterity. When lower motor neurons are injured, weakness, atrophy (loss of muscle mass), fasciculations (muscle twitching) and cramps are the typical symptoms.
In most cases, the disease begins in the limbs. In about one third of people, the symptoms start in what’s called the “bulbar” region, primarily affecting speech and swallowing. Rarely, the disease can start by affecting the breathing muscles. Up to half of the people with the disease may experience, at some point, difficulty with particular cognitive functions such as language (e.g. word finding) and executive function (e.g. complex decision making). The cognitive decline may be severe in a minority, meeting the criteria for dementia.
In the United States, there are about six people living with ALS per a population of 100,000.
The disease is 1.3-1.5 times more likely to occur in men compared to women.
What causes ALS?
In 10-15% of cases, ALS is caused by a gene mutation. Most often, those patients with a genetic cause of their disease also report a family history of ALS and/or frontotemporal dementia (FTD). But around 5% of patients without a family history may also have disease caused by a genetic mutation. The cause of non-genetic (or “sporadic”) ALS is not well established. Advancing age is a risk factor, with the probability of disease increasing after age 40, peaking at age 72; the average age at onset is about 62. Smoking is probably also a risk factor.
Although many other possible other risk factors have been proposed (such as military service, head trauma and exposure to environmental toxins), none have been unequivocally proven to cause ALS. Whatever the cause of disease, the result appears to be the accumulation of abnormal proteins in motor neurons, resulting in cellular injury and ultimately cell death.
ALS Treatments & Symptom Management
Despite the lack of a truly effective therapy, there are many management options, including for the myriad of symptoms that may result from the loss of motor neurons. It is therefore very important that ALS patients are treated by a team of experts, who are able to address the different ways in which the disease impacts a person living with ALS. Indeed, a multi-disciplinary approach to the care of ALS patients is well known to significantly improve the quality of life and survival. Click here to learn more about multi-disciplinary care in ALS, and click here to learn more about the Kessenich Family ALS Clinic at the University of Miami.
In the absence of a cure for ALS, we firmly believe that patients should have the opportunity to participate in clinical trials of experimental therapies, and to contribute to research into the underlying causes and biology of disease. Such research can only be done through a partnership between patients and clinicians/scientists. Click here to learn more about ALS research at the University of Miami ALS Center.
ALS Treatment Options
Riluzole is the only drug known to have an impact on survival in ALS, albeit modest. After randomized-controlled trials demonstrated its benefit, the drug was approved by the FDA in 1995. It extends survival by a few months on average. It is thought to work by decreasing excessive stimulation of motor neurons by a molecule called glutamate.
It is taken by mouth, at a dose of 50mg twice a day on an empty stomach (1 hour before or 2 hours after meals). It is usually well tolerated. Common side effects include lack of energy, gastrointestinal discomfort such as nausea and abdominal pain, dizziness and numbness around the mouth. Liver function tests must be monitored while taking this pill. Please note that there are rarer but potentially more significant side-effects that are beyond the scope of this web page. Please discuss with your physician.
This medication is a free radical scavenger. It is thought to work by decreasing oxidative stress to motor nerve cells. It was approved in the United States in 2017, after its benefits were demonstrated in a select group of ALS patients with early disease and well-preserved functional status, including strong respiratory muscles. In this group of patients, the medication was shown to reduce functional decline by about a third over a period of 24 weeks. Because the study duration was only 24 weeks in duration, an adequate analysis of survival benefit was not possible.
It is important to note that the drug failed to show significant benefit in an earlier study that recruited patients with more advanced disease. Some experts believe all patients should be offered this drug, while others prescribe it to a minority, whose disease meets specific criteria. Many insurance companies have strict guidelines for approving this expensive drug.
The medication is given intravenously (IV). The first cycle of treatment consists of 14 days of daily IV infusions of 60mg followed by 14 days off therapy. Subsequent cycles require 10 infusions days within a 14-day block, followed by 14 days off medication. A typical infusion takes about 1 hour. Based on what is currently known, the benefits of the medication may only occur for as long as medication is used.
Edaravone is usually quite well tolerated. The most common side effects are bruising at the injection – site, gait (walking) disturbance and headache. Please discuss with your physician about additional side-effects, as well as the risk and benefits of this medication for your specific situation.
Efforts in making a pill form of this medication are underway.
Most people with ALS will eventually develop weakness of the muscles that help them breathe. Early signs of respiratory decline may include frequent awakenings at night, being unable to lie down flat, early morning headaches and becoming short of breath when lying down or with minimal physical activity. The decline in the muscles that control breathing is also the most important cause of cause of death in ALS.
For all these reasons, we closely monitor our patients’ respiratory function, measuring the pulmonary function during clinic visits. Specifically, we closely monitor your “vital capacity,” or the amount of air you are able to move in and out of your lungs.
The ability to cough is also impaired as ALS progresses. A strong cough is essential for moving mucus out of the lungs, reducing the chances of respiratory infection. We do, therefore, also monitor the strength of your cough.
There are several treatment options for people with weak breathing muscles and a poor cough.
A technique you can learn to get more air into your lungs. Many people with ALS use breath stacking to maintain their daily function even as their respiratory muscles weaken. Our staff can teach you the technique so you can practice it before you will need it.
Cough Assist Machine
Improves your cough by first increasing and then rapidly decreasing the pressure in your airways. The rapid lowering of pressure acts like a cough to move secretions up from your lungs into your throat, where they can be removed.
Non-invasive Positive-Pressure Ventilation (NIPPV)
When the respiratory strength declines, a non-invasive breathing machine may be needed. Non-invasive ventilators are sophisticated machines that are adjusted for the specific needs and comfort of individual patients. These machines help to move air into your lungs via a mask that fits over the mouth and nose, or via “nasal pillows” that fit comfortably inside your nostrils. There is evidence that suggests appropriate and adequate use of these machines significantly improves survival and quality of life in ALS patients. In fact, the survival benefit of non-invasive ventilation appears to be significantly more impactful than Riluzole, especially in patients with good swallowing and speech.
Most people with ALS initially use NIPPV at night only, and then progress to daytime use over time. The most common form of NIPPV is called BiPAP, for bi-level positive pressure ventilation. We recommend consideration of NIPPV when your vital capacity falls below 50% of normal.
A tracheostomy surgically places a breathing tube into your airways. The tube is connected to a ventilator that takes over the work of breathing. It is appropriate to consider when NIPPV is no longer providing adequate ventilation. A tracheostomy requires a much higher level of skilled nursing care than NIPPV, and it may interfere with your ability to speak. Our staff will discuss the many issues involved in choosing tracheostomy with you before you come to that decision point.
Swallowing & Nutrition
Swallowing becomes more difficult as ALS progresses. Difficulty swallowing increases the chances of choking on food, or inhaling food, which can cause pneumonia. It also tends to reduce the intake of food, leading to undernutrition. In addition, ALS results in increased metabolism, leading to increased caloric needs. As a consequence, many patients with ALS experience significant weight loss. There is evidence that suggests weight loss correlates with shorter survival.
The role of a multidisciplinary clinic is crucial in addressing these issues. Speech and swallow therapists monitor the safety of swallowing and provide counseling about safe swallowing techniques while also suggesting changes in food consistency, if indicated. Nutritionists ensure adequate calories and macronutrients are available. In some instances, weakness in muscles related to swallowing may jeopardize the safety of oral intake. If this occurs, or if the oral intake proves inadequate in maintaining body weight, a feeding tube may be indicated. Called a PEG tube or RIG tube, this tube is placed through your abdominal wall into your stomach, allowing nutrients, liquids, and medicines to be introduced into your gastrointestinal tract directly, without the need to swallow. The tube is quite narrow, and it remains unobtrusive underneath your normal clothes. After the tube is placed, you can continue to consume foods and beverages by mouth if you wish to for as long as it is safe to do so. This allows you to enjoy food and drink by mouth without worrying about obtaining adequate nutrition.
Experts recommend that a feeding tube is best placed when the breathing capacity is above 50% of normal. Data suggests feeding tubes may improve survival and life quality in ALS patients.
Voice & Message Banking
Background-speech changes with ALS:
While about 30-40% of patients with ALS first experience symptoms related to speech and swallowing (“bulbar” symptoms), almost all patients with ALS will eventually develop difficulty with speech and voice (dysarthria and dysphonia) as well as swallowing (dysphagia). While for many people, the idea of losing one’s voice can be a loss of self and identity, it is important to be aware that communication can still occur, even without a naturally produced human voice. Communication also occurs through facial expressions, gestures, writing, pointing, texting, and speech-generating applications or devices.
What is voice banking?
With the rise of technology, people with ALS can record and upload their voice, or a loved one’s voice, to be used later while communicating through a speech-generating device. Using one’s own voice instead of a preprogrammed voice, such as Siri or Alexa, can help preserve self-identity. This is process is called voice banking.
Voice banking entails recording many phrases, which are combined to create a synthesized digital voice that will sound similar to one’s natural voice. This synthesized voice can later be used with a speech-generating device. Because the voice is being recorded, voice banking is best completed before there are changes to speech and voice. This can be done online and at home with a few simple tools. Step by step instructions can be found HERE.
What is Message banking?
Message banking is similar to Voice banking with some differences: While voice banking takes individual sounds to generate words and phrases, message banking is the process of recording and keeping entire phrases to capture the unique tone and delivery style of a message. Additionally, message banking can be completed after speech changes have already occurred, since the recording of entire phrases is done using one’s voice as it sounds at the time of recording. Digital message banking can capture and preserve the sound of laughter, delivery of the punch line of a joke, softness of loving phrases to family, friends, and pets, and even anger through expletives. This is best done on a handheld recorder (e.g Zoom recorder), as this can be carried around a house and outside of the house where many conversations take place. Recording one’s own voice in a “natural” conversation may be the best way to capture the unique features of a laugh or common phrase. The results of using message banking can be priceless and we strongly encourage this for all people with ALS.
As leg weakness increases, a person with ALS will increasingly rely on a wheelchair for mobility. A manual wheelchair is useful when a caregiver is available for pushing the chair. An electric wheelchair provides more independence without taxing limited strength. There are many different features to consider in the choice of a power chair. A chair that reclines, tilts, and elevates the legs is valuable for preventing pressure sores as you lose the ability to shift easily in the chair. Chairs are available with space for a ventilator, if that is needed. The chair should be able to navigate within the home. The home may require some modification for this. You can discuss the many options and decisions with our physical therapist.
Anxiety & Depression
Receiving a diagnosis of ALS is a life-altering event. It is entirely natural to experience changes in mood as a consequence. Coping with the diagnosis, especially soon after receiving it, can be challenging, and the loss of abilities throughout the disease process may be hard on even the most resilient person.
Anxiety and depression are more common in people with ALS than in the general population, though they are by no means a universal aspect of the disease. There are medications available to help with these conditions when they arise. But just as important is having the chance to talk about your feelings with a trained therapist who can help you understand them and cope with them. A combination of medication and talk therapy often provides the best outcome.
Family members, especially those who are caregivers, may also experience depression. Support resources for caregivers are available, and are an important venue for “caring for the caregiver.”
Cognitive & Behavioral Changes
About half of all people with ALS will develop mild behavioral or cognitive impairment as part of their disease process. These changes in behavior, thinking, remembering, and planning are often so mild they are overlooked within the family, and may not interfere with daily life. A smaller group of people with ALS will develop more significant impairment, and some will develop a form of dementia known as frontotemporal dementia or FTD. The symptoms of FTD vary, but most commonly include behavioral changes such as disinhibition, apathy or loss of empathy, or obsession. Memory loss is much less common than in Alzheimer’s disease.
In some cases of ALS, behavioral or cognitive symptoms occur very early in the disease, while in many others, they occur late or not at all. If they do occur, it can be helpful to the family to remember that they are part of the disease process, and not a reflection of the relationships within the family, especially important to remember about behavioral changes. Our psychologist and other members of the team can work with the family to understand these changes and minimize their impact.
ALS may result in various symptoms, which may or may not be related to muscle weakness.
These may include thick secretions, muscle cramps, stiffness, muscle & joint pains, sleep difficulty, and social difficulties.
Experts in a multidisciplinary ALS clinic can provide various medications, and non-medicinal therapies to address each of these issues. Treatment options depend on each patient’s personal individual preferences, disease status, other possible health problems and medications that are not ALS-related.
Please discuss with your ALS Care team to discuss your specific options, if you are experiencing any of these problems.
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Multi-disciplinary Care Makes The Difference
We focus on a holistic approach to the proactive management of life with ALS.
Research Holds The Key
Comprehensive research is the pathway to understand and eventually cure this complex disease.
We are here to help
With a diagnosis of ALS it is common to experience shock, fear or confusion. It may also be unclear as to what to do or expect. It is important to understand that there are steps that can be taken to manage life with ALS. At the University of Miami ALS Center we are highly trained, compassionate professionals who are willing to take the time to provide clarity to a diagnosis while helping you to understand the disease and what it could mean to you and your family.
Frequently Asked Questions
Receiving a diagnosis of ALS can be an overwhelming experience. You may have received information during your clinical visit that was hard to process at that time, or which you now have more questions about. The information below and elsewhere on this website may help you begin to understand more about living with ALS, and how to plan for changes in your future. We also encourage you to make a list of your questions and contact us so that we can provide you with the answers and information you need.
How Certain Is My Diagnosis?
There is no single test that can confirm the diagnosis. Your neurologist considered several different factors in determining your diagnosis, including your symptoms, history, and test results. Taken all together, they point to ALS as the right diagnosis. But we are always supportive of the desire to obtain a second opinion, if desired. Our staff can help you find another neurologist who could help.
What Should I Expect For The Future?
There is no one answer to this question. The disease progresses at different rates in different people, and we cannot predict how fast it will progress for any specific person. In general, we believe that the course of the disease to date is somewhat predictive of what the future holds. If your disease has progressed slowly until now, then it is likely that it will continue to do so. Over time, you will notice more muscle weakness, and weakness spreading to other muscles. This will make it more difficult to carry out activities of daily living, such as dressing, washing, and feeding. ALS causes loss of the ability to walk, and eventually makes it difficult to speak and swallow. Some people with ALS will experience some loss of their cognitive (thinking) abilities, although this is not true for everyone. The average survival after diagnosis is three to five years, but it may range from as little as six months to 20 years or more. We do not yet understand all the factors responsible for these differences in survival, and we cannot reliably predict survival for any specific person.
Will My Insurance Cover The Costs Of My Care?
Each person’s insurance plan may differ in detail. Most insurance plans do cover many of the costs of ALS care. Our staff can help you learn what your plan will cover, and how to talk about these issues with your insurer. We also have other ways in which we can help you cover the costs of treatment, if you need financial help.
Should I Stop/Start Exercising?
Moderate exercise should be part of every person’s health regimen. We don’t yet know whether exercise specifically benefits people with ALS. There is no evidence that strenuous exercise can help, and there are risks of muscle damage from overexertion. We recommend a program of aerobic exercise to maintain cardiovascular health, while avoiding overdoing it.
Early on, most people find they can continue much of the exercise they enjoy, whether swimming, walking, bike riding, or gardening. If you don’t currently exercise regularly, it is a good time to start. Activities such as running, which may increase the risk of falling, may no longer be safe as your symptoms progress. Our physical therapy staff will work with you to develop a safe, healthy, and enjoyable exercise program.
What Research Is Being Done To Stop ALS? Can I Get Involved?
Research into the causes and treatment of ALS is the focus of many of the best scientists in the United States and throughout the world. There are dozens of top-quality research laboratories working hard to find the best approaches to develop therapies. Enormous strides have been made in recent years, and significant new discoveries are announced every year. You can learn more about ALS research, and how you can get involved, here.
What Is Medicare?
Medicare is a federal health insurance program administered by the Centers for Medicare and Medicaid Services (CMS). It is available for people age 65 and older and persons eligible for Social Security Disability Insurance (SSDI). For many conditions, there is a two-year wait to become eligible for Medicare. This two-year wait is waived for patients with ALS, who are immediately eligible for Medicare.
Medicare Part A is Hospital insurance. It helps to pay for care in hospitals as an inpatient, skilled nursing facilities, hospice care and some home health care. Medicare Part B is medical insurance that covers doctors’ services and outpatient services (including some nursing facilities and in-home health care costs). Medicare Part D provides prescription drug coverage.
What Is Social Security Disability Insurance (SSDI)?
SSDI is a payroll tax-funded, federal insurance program of the United States government that is managed by the Social Security Administration. It is designed to provide income supplements to people who cannot work because of a disability, such as ALS. Importantly, eligibility does not depend on income or the resources of the disabled individual seeking SSDI.
Who Can Qualify For SSDI?
A person qualifies for SSDI if all three of the following criteria are met:
- They are disabled
- Presence of a physical or mental condition that prevents them from working (defined as engaging in any “substantial gainful activity“)
- The condition is expected to last at least 12 months or result in death
- They are under the age of 65
- They have accumulated 20 Social Security credits in the last 10 years prior to the onset of disability
What Is The Process To Establish Disability?
- Social Security will determine if you are working, defined as being engaged in “substantial gainful activity,” which means earning more than $1,010 per month as an employee
- If you have impairment that Social Security considers “severe.” Social Security will consider impairment(s) severe if they significantly limit the ability to perform basic work activities needed to do most jobs. Examples include: walking, lifting, and speaking.
- Social Security will decide if your impairment is a “listed” impairment. The “list of impairments” is a Social Security list with most of the disabilities that are known to be permanent or terminal. ALS is a “listed impairment,” meaning it meets the requirements for disability.
What Is A Health Care Directive?
A health care directive is a written or oral statement about how you want medical decisions made should you be unable to make them yourself, such as for life-threatening illness, permanent disability, and estate planning. There are three types of advance directives: Living Will, Health Care Surrogate Designation and Anatomical Donation.
Why Is It Important To Have Health Care Directives?
A health care directive assures that your wishes will be carried out. Without it, the person making decisions on your behalf may not be aware of your wishes. A health care directive, therefore, helps your family insofar as it is easier for them to make difficult decisions when they clearly know your wishes.
What Is A Living Will?
A ‘living will’ is a type of health care directive. It articulates your wishes regarding the EXTENT OF TREATMENT and TYPES OF TREATMENT you will receive if you become incapacitated and are determined to be in a terminal condition and/or to be permanently unconscious.
The “extent of treatment” might include measures to “keep you comfortable” (palliative care), or providing whatever measures are necessary to “keep you alive.”
Types of treatment might include cardiac resuscitation, mechanical ventilation, tube feeding or use of other artificial or invasive nutrition, artificial hydration, blood or blood products, any form of invasive diagnostic testing, antibiotics, etc.
Where Can I Find Information About Disabled-Friendly Public Transportation?
The answer depends on the county in which you reside:
- Miami-Dade County Transportation – Special Transportation Services (STS)
- Broward County Transportation – Paratransit (TOPS)
- Monroe County Transit – Paratransit Services
- Palm Beach County disabled transportation service – Palm Tran CONNECTION