Ann: Thank you very much. Today's topic is focused more on the caregivers than the individuals with motor neuron disease. Occupational therapists have a lot of contact with caregivers, and we do not always know how to address some of their concerns. We are going to begin talking about a review of the disease and discuss current concepts and treatments for the disease. Most of the information I have taken is from the National Institutes of Health. The reference for the information is at the end of your handout.
ALS- Motor Neuron Disease
ALS, amyotrophic lateral sclerosis, is a motor neuron disease and is also referred to as Lou Gehrig's disease. It, and many of the more generic motor neuron diseases, seem to be representative of a number of conditions, and may not be the same. Everybody who is diagnosed with ALS may not have the same condition. There is still a lot about the etiology of the disease that is unknown. We do know that it affects more men than women, 90% of the cases are sporadic, which means that they just occur with no determining factor, and ten percent of all cases are familial, which means that there is a genetic cause and it tends to run in families. It also tends to affect people between the ages of 55 and 75. However, the familial forms tend to affect people who are in a much younger age group. It progresses at differing rates and is more than one condition, as I have said.
Difficulty swallowing and chewing food is one of the major problems that people encounter. Eating food in our society is a central part of life, and it is one of the few times that people remain social. When you lose the ability to eat, it affects people usually at home, but also in a work environment because many meetings are held over lunch or dinner. People with ALS also burn calories at a faster rate than most people without ALS. They lose body weight rapidly and can become malnourished. This is, again, because of the feeding issues that are associated with the disease.
Cognitive Considerations
Another thing to consider are the cognitive issues that people experience. Higher mental processes, such as reasoning, remembering, understanding, and problem solving tend to remain intact for most people that have ALS and motor neuron disease. There is one variant of that, which seems to have a relationship to frontal orbital dementia and may be related to Lewy body disease, that I will discuss in a minute. In that instance, sometimes mental processing is disturbed, but the vast majority of people who have ALS, even though they may not be able to communicate verbally, are still intact cognitively through the full extent of their life.
One of the most difficult functional losses is the client's inability to speak. As occupational therapists, it becomes very important for us to advocate for assistive technology to help them to communicate. In my experience, this has varied greatly from institution to institution. A person has the best chance of getting the equipment that they need beforehand if they are affiliated with a tertiary care center, a university-based medical center, or a medical center that has access to assistive technology through a rehab resource engineering group, such as Arook, but not everyone can get immediate access. As many different types of tablets and phones as are available, it is sometimes possible to introduce a tablet to someone and have them try to use it, even without any assistive technology software. There are some things that are available for not great sums of money, but can make a great difference to a person, in terms of trying to sustain communication. Some people with ALS may experience problems with language or decision making. There is growing evidence that there may be some that develop a form of dementia over time, as I mentioned.
Accompanying Conditions
There are other conditions besides the diagnosis or the problems with feeding and swallowing. Many people develop breathing difficulties as their respiratory system weakens. They eventually lose the ability to breathe on their own. There has to be a decision made about whether or not they want to go onto a ventilator. One of the things to consider is that over the past 30 years, we have had more progress with things such as the Passy Muir valve. If they can still speak, but they are not necessarily breathing well, they may still be able to speak with a respirator if they have a Passy Muir valve attached to it. Not everyone is going to agree to use a respirator because a respirator, once they begin on it, is something they will have to use for the rest of their lives. You have to pay close attention to the person's wishes regarding their spiritually, their beliefs in sustaining life, and what they are willing to live with. This sounds maybe somewhat straightforward, but it is always the murkiest part about caring for people with motor neuron disease because you have to know what it is that they want to do and what they can tolerate. There is also an increased risk of pneumonia during later stages of the disease.
As I mentioned, people have difficulty swallowing. Most of us do aspirate on our saliva at night, but our immune systems are intact. People, that have ALS and other motor neuron diseases, have immune systems that are impaired. They have an autoimmune kind of condition. When they aspirate on their own saliva, they can become ill because of the bacteria and viruses in their own saliva. This can lead to the pneumonia in later stages of the disease.
Muscle cramps also can be very discomforting. Some people with ALS walk for extended periods of time. They lose more of the bulbar functions first, while others may lose more of the core muscle in their shoulders and pelvis and have to rely on wheel mobility. Muscle cramps cannot be easily stopped as it is not so easy to find medication or a modality that will interfere with the cramps. Painful neuropathy is also part of the disease process. I find that clients and caregivers do not understand peripheral neuropathy. They may not have access to the drugs that work on the central nervous system, but rather only the drugs that work locally, like topical agents. For example, many of the creams that are available over the counter contain lidocaine. Lidocaine has a side effect of decreasing inflammation in nerve tissue. Sometimes, this medication is enough to give the client relief of the neuropathic pain. Lidoderm patches that are prescription strength are very effective at treating painful neuropathy. Also, sometimes compression helps with painful neuropathy. Using mildly compressive stockings or gloves can sometimes help to limit the discomfort from the neuropathic pain.
Diagnosis
Detailed History
Usually, a physician will take a detailed history of the symptoms and signs. Typically, there will be the presence of both upper and lower motor neuron symptoms. You may see things like muscle weakness, atrophy of muscles, and spasticity all mixed together. It is not a clear picture of being an upper motor neuron or lower motor neuron issue, but both occurring at the same time.
Muscle and Imaging Tests
You will also see abnormalities on muscle and imaging tests, like an EMG or a nerve conduction study. Often, you see EMGs and nerve conduction studies done at the same time by a neurologist that specializes in administering those tests. The third test is magnetic resonance imaging. This is not a regular MRI, but an MRI that is done while trying to engage the person in a functional task. Functional MRIs show abnormalities in the brain, and it can help to show where a muscle may be deteriorating due to a lack of neurological stimulation that accompanies the disease.
Laboratory Tests
Laboratory tests can be used to rule out other symptoms. Based on the person's symptoms, test results, and findings, the physician may want to test blood and urine samples to eliminate those other diseases. For example, there are paraneoplastic syndromes that people experience when they have cancer conditions that can look like motor neuron disease. By doing specific tests, they can rule this out.
Rule Out Other Disorders
It is important to rule out other disorders that have similar symptomatology. For example, Parkinson's disease may accompany some forms of ALS. Sometimes there is confusion whether or not you are seeing ALS, Parkinson's disease, or Lewy body disease.
Causes of ALS
There are different things that cause ALS.
Genetic
From a genetic standpoint, there is a gene called the SOD1 gene that leads to motor degeneration. It plays a role in producing a mutant SOD1 protein that can become toxic. In other conditions, like Lewy body for instance, there are amyloids. Amyloids are protein deposits that should not be there. If they change in their structure, then you start to see motor degeneration happen. It is genetically triggered. Genetic mutations change the processing of RNA molecules, and this may lead to ALS-related motor degeneration. There are also defects in protein recycling that can cause ALS. In 2001, a gene called C90ORF72, which leads to frontotemporal dementia, was identified. That is the condition I was mentioning that looks like Lewy body disease.
Environmental
Some of the causes of ALS also can include environmental factors. Exposures to toxic or infectious agents, viruses, physical trauma, diet, and behavioral and occupational factors may all have a role. The Veterans Administration recognizes ALS as a disease resulting from exposure to toxins during warfare. This has been seen since the Vietnam War and the use of Agent Orange. Then, there are other environmental causes that are suspected but not proven. One of these is a link to dog viruses and ALS. For instance, in large cities in the 1980s and '90s, laws were enacted called "pooper scooper laws" because there was thought to be a link between ALS, MS, and dog feces, but that has never been proven. ALS is also called Lou Gehrig's disease because of a famous baseball player. Many of these sports fields are treated with fertilizer. This is an example of chemical exposure. Again, there are many possible things that will affect it, but it is not yet well defined.
Treatment for ALS
Medications
There is treatment that can help to curtail the disease process. There are two drugs that are available. One is called riluzole or Rilutek. It reduces damage to motor neurons by decreasing the levels of glutamate, which transports messages between nerve cells and motor neurons. It prolongs survival by a few months, particularly in the bulbar form of the disease. The bulbar form of the disease is the form that affects the facial muscles and the muscles that have to do with swallowing and speaking. If a person is starting to deteriorate with swallowing, they may be put on riluzole. The second drug is edaravone or Radicava. It slows the decline in clinical assessment of daily functioning in persons with ALS. If someone is beginning to have difficulties toileting, dressing, or feeding themselves, then they may be put on the edaravone or Radicava to slow the condition and to try to support their functioning and participation.
Rehabilitation
Rehabilitation plays a major role in the treatment for people with ALS and motor neuron disease. When people are going to lose function, it is up to us to train them in what assistive technology or tools are available that may help them to deal with the decline in function. It is better to start early to transition them to depend more on assistive technology than to wait too long. There have been studies, for instance, in people with ALS that have used environmental control units before they have deteriorated. At this point, there is an increased ability to use the brain interface. By training people before they need to use very advanced technology, they will have better outcomes. When you see people who are being put on these drugs, you know you have to start preparing them for a larger decrease in function. In rehab, it is common to make referrals to speech, physical therapy and occupational therapy, as they all play a role with people with ALS.
Breathing Support
Respiratory therapy and pulmonary services also support people with ALS. People may need assist with breathing. Remember, oxygenation is only one piece of it. The other piece is paralysis of the diaphragm and weakening of the accessory breathing muscles. The muscles that control the ribcage, like the serratus anterios, also assist the shoulder and girdle functions. In addition to the decline in diaphragm functioning, they cannot expand and contract their ribcage to support breathing. Breathing support becomes very important. As I said, when people think about their advance directives, it is one of the things that they have to decide for themselves. The major questions are will they accept a respirator and will they accept a feeding tube.
Nutrition
If they are eating orally, there may have to be changes in what people are eating. There may be swallowing or aspirating issues. Sometimes things that are bulky and difficult to chew are going to create boluses that are difficult to swallow. This could lead to choking. People with ALS tend not to eat as much protein because food like steak or chicken tend to be difficult to chew, move the bolus, and swallow. Oftentimes, nutritionists will add protein supplements to diets to try to bulk up a person's muscle function and to try to sustain their muscle function for as long as possible.
Research
There is research currently being done as well.
Cellular Defects
There can be cellular defects with the processing of RNA molecules, recycling of proteins, or structural impairments of motor neurons. There are also glial support cells and inflammation cells of the nervous system. They may play an important role in the disease. The cellular defects are a focus of nanotechnology and immune technology. Working on the person's own cells, external to the body, and returning them is one of those focuses. Stem cells fit into that equation, as well. Stem cells are being more widely used in a number of different types of conditions, anything from knee arthritis to things like neurological conditions.
Stem Cells
Stem cell research is also being done with ALS. Skin or blood cells, from individuals who have ALS, are turned into stem cells, which are capable of becoming any cell type in the body including motor neurons and other cell types that may be involved in the disease. The person's cells are taken, are treated, spun down, and then they are re-infused where they want the stem cells to seed and take over functioning. There are clinical trials either focusing on the cellular defects or the use of stem cells.
Familial
Other research is being done on the familial form of ALS and motor neuron disease. This looks at how ALS symptoms change over time in people that have the C9ORF72 mutation. Epigenetic changes can switch genes on and off, including external/environmental conditions and events. Familial research is also being done looking at the individual protein level and at genes.
