What is ALS?Aug 21, 2014
Interviewer: ALS, what is it and what do you need to know? We'll examine that next on The Scope.
Medical news and research from University Utah Physicians and Specialists you can use for a happier, healthier life. You're listening to The Scope.
Interviewer: You may have heard of ALS, or Lou Gehrig's disease, but do you really know what it is and how it could affect you, or somebody you love? We're going to find out more with Dr. Mark Bromberg. He's Director of the ALS Clinic at University Utah Healthcare.
Let's talk about ALS for a second here. I'm not even going to try to attempt to say what those initial stand for. I'm going to let you do it.
Dr. Mark Bromberg: ALS stands for Amyotrophic Lateral Sclerosis and it's the term that was coined by a French neurologist in the 1800s when they were just beginning to understand the diseases of the nervous system. Actually it's a very descriptive disorder, because the amyotrophy indicates that there's atrophy or shrinkage of muscle and that in turn we feel is due to fewer nerves from the spinal cord going to the muscle.
And the second, "lateral sclerosis", refers to a second set of cells that send their fibers down the lateral sides of the spinal cord. And when they degenerate there's a bit of scar tissue that forms, which is hardening. And so sclerosis is a general pathologic term for hardening. So that indicates there are two sets of nerve cells that degenerate in ALS; one that goes out to the muscle, and one that starts up in the brain and sends their fibers down.
Interviewer: So as a result of that, what are the symptoms that somebody would have?
Dr. Mark Bromberg: The primary symptoms of ALS are weakness. And so ALS, for unclear reasons, tend to start locally. In other words, people will have difficulty or weakness with functions. For example it may start with difficulty with speech, in other words they're not able to move their tongue easily and so the words are slurred, and with that can be difficulty with swallowing. Or it may start in a limb. When it starts in a limb it tends to start in a hand, if it's in the arm or in the foot if it's in the leg.
The problem with ALS is that this weakness progresses. No matter where it starts, it moves to other areas. Unfortunately, at this time we do not have a cure for the disorder. The weakness does progress, and eventually it involves the nerves that go to the diaphragm muscle, so people do pass away from respiratory failure.
Interviewer: So people can die from it, but more likely they just become so weak they can't function anymore? What exactly happens, you end up in a wheelchair?
Dr. Mark Bromberg: Well, yes, weakness does progress. Yes, people do have difficulty with walking and need a wheelchair. But unfortunately everybody does pass away from the disorder.
Interviewer: Just end of sentence.
Dr. Mark Bromberg: Correct.
Interviewer: Gotcha. That sounds pretty scary.
Dr. Mark Bromberg: Well, it is scary when you stand back and look at it. To have a condition that starts, and we don't know why it starts, and it progresses and we do not have a therapy, and people pass away from it. Yes indeed, it is a frightening prospect.
Interviewer: How common is it?
Dr. Mark Bromberg: Well, statistically it's considered to be a rare disorder. But practically speaking it's not that uncommon. If you look at numbers, about 2 per 100,000 people develop the disease in any given year. If you stand back, in the United States, that's about 5,000 or so new cases per year.
Interviewer: So not a lot really, unless you're that person, I suppose, or know that person, or love that person.
Dr. Mark Bromberg: That is correct. It's somewhat of a quiet disorder in that about 20 years ago when we did not have the clinics, doctors generally said, "This is what you're diagnosis is. There's nothing we can do about it, so no need to come back." Under those circumstances people tended to retreat into their homes and were unable to get out and so it was very must a quiet disease.
But when you hear about it and talk to your friends and neighbors about it, you find that more often than not that there's somebody in your locale, or sometimes several people in your locale, who do have the disorder.
Interviewer: So you talk about the clinic. You've said it's a multi-disciplinary clinic. What the advantage to having that type of a clinic treat somebody who has this disease?
Dr. Mark Bromberg: Well, as I mentioned earlier it may start in one particular place and move to other places. In some sense no two patients have the same difficulty at the same time. So in the multi-disciplinary clinic, the disciplines are people who can provide specific care.
For example, we have speech pathologists to help with improving and enhancing speech output. We have nutritionists in case swallowing becomes a problem and people lose weight. We have occupational therapists to aid with hand function, physical therapists to aid with leg function. We have respiratory therapists to help when the breathing becomes shallow.
We also have a social worker, because this obviously, in addition to having a physical toll, does have a psychological toll, and not only for the patient, but also for the caregiver. We have a clinical pharmacist. We have perhaps the most important person, which would be a nurse. And then we have the neurologist.
This particular clinic is sponsored by the Muscular Dystrophy Association, so we do have a representative from that association. And they can help with community resources and the lending out of equipment at times.
Interviewer: So it's very obvious by all the people on this team that, as you said earlier, there's no treatment, there is only managing of the disease, it sounds like, and this is all part of to maintain somebody's life.
Dr. Mark Bromberg: That is correct.
Interviewer: What kind of drugs? Are there drug treatments to slow this down yet?
Dr. Mark Bromberg: Well, at this point there is only one drug that is found to have any clear effect on the course of ALS. The problem is that the effect is very modest, and that drug is called "riluzole". All of the other medications we use to help manage symptoms as they arise.
Interviewer: And is this hereditary? Is ALS hereditary?
Dr. Mark Bromberg: Well, it turns out that in about 5% of people; they will give you a very clear family history that it is in the family. But as we determine genes that are associated with it, the number of genes is fairly large. At least 12 different genes have been associated with this.
We are also finding that in some families they do not appreciate that there's an underlying gene, but we are beginning to find that. So overall, perhaps 8-9% of people have a gene associated with the disorder. Some we think is directly causative and some of it may be contributory.
Interviewer: What's the worst part of ALS in your opinion?
Dr. Mark Bromberg: Well, I've seen a lot of people with it and it's very difficult for me to say from their perspective. But what I hear from my perspective and I what I put together is that as the weakness progresses, people can kind of get used to the degree of disability and manage at that time. But as time goes on, just as their managing, they become weaker yet and weaker in other areas. And they manage that, and then they become weaker and in other areas. So it's sort of the relentless progression that to me, I think, would be the most challenging.
Interviewer: Do you have any final thoughts or anything that I forgot to ask you, or something that you would want a listener to know?
Dr. Mark Bromberg: Well, I don't think people should be overly concerned about contracting ALS, because it is a rare disorder. But do be aware of it, and if there are any people in your family or in your neighborhood or your other social circles that do have the disorder, you may inquire or is there anything you can do to help them out or help the caregiver.
Announcer: We're your daily dose of science, conversation, medicine. This is The Scope, University of Utah Health Sciences Radio.