Multidisciplinary Management of SMA

James Wymer, MD, FAAN: The multidisciplinary team is the future, and this is what has changed in the past 5 to 10 years in the treatment of spinal muscular atrophy [SMA]. Before, it was very much focused on supportive care, or what we can do to help you. With our knowledge and the newer therapeutics that are attacking the disease, this multidisciplinary or interdisciplinary team becomes a very key resource in that. What that will involve is using a combination of physical therapists, occupational therapists, respiratory therapists, speech and language pathologists, and a lot of specialists who are trained in their own particular area and focus specifically on spinal muscular atrophy. What they can do in that multidisciplinary team is provide an exercise program specific to your disease.

We know we don’t want to overexercise people. We know we don’t want to underexercise, because if you don’t do enough exercise, your muscles and joints get stiff. If you do too much exercise on a muscle that’s injured, you can make it worse. We have to find that little window that allows us to do just enough exercise to keep the joints loose and provide some exercise for that muscle but not too much. That’s why the multidisciplinary team includes these specialists—physical therapists, occupational therapists, respiratory therapists, and speech and language pathologists. They’re looking at where you are in your disease and developing a personalized program that’s going to help you to address it. 

I mentioned the exercise. I kept focusing on that, but they’re also going to work on supportive technology. If a patient experiences weakness, is there special bracing? Are there other things that can help? If they’re swallowing, are there tricks they can do to improve the swallowing? What can they do to monitor it? Can they catch a problem before the problem occurs? That’s what the respiratory therapist is going to monitor. They’re working with you as partners in your care based on where you are in your disease, what we can do to identify the next problem before it becomes a problem, and how we can intervene on that.

Tim Hagenacker, MD: Pulmonary care is very important in those patients who have an early impairment of ventilation, or also have problems with coughing and similar symptoms. In those patients, you need an experienced pulmonologist at your center who can take over the care for mechanical ventilation, noninvasive ventilation at night, and prescribing cough-assist devices. This is essential, because it is the most important way to protect patients from severe respiratory infections or pneumonia. 

The gastrointestinal management is also important for the severely impaired patients. The SMA type 1 and 2 patients can have bulbar involvement, so they may have problems with chewing, choking, or other symptoms like that. In these patients, you need good gastrointestinal management to prevent further loss of weight. For that, you need a good nutritionist and gastrointestinal expert, as well.

James Wymer, MD, FAAN: The major gastrointestinal complication that can happen in someone with spinal muscular atrophy involves the ability to swallow food and get it into the stomach. This involves 2 parts. We talk about what we refer to as the efficiency and the safety of the swallowing.

The efficiency of the swallow is the ability to put food in your mouth, chew it, and get it into the back of the throat. The safety is the ability to then take it from the back of the throat and get it down into the stomach without it going into the lung. When you see a speech and language pathologist, they’re going evaluate both of those. In the case of spinal muscular atrophy, 1 of the things that can happen that is different from a lot of other diseases is that because of the muscular involvement of the jaw muscles, you get weakness and fatigue in the jaw muscles, which makes chewing very hard.

Patients are not able to chew and get it into the back of the throat. They have problems with efficiency in getting food to the back of the throat. Then they can also have problems with safety. That is, do they send it down the wrong pipe? When they swallow, is it efficient? Swallowing involves multiple muscles. If they don’t communicate correctly, it can go down the wrong pipe and aspiration can happen. We want it go straight to the stomach.

The speech and language pathologist will specifically work with them on exercises. What are the problems or tricks they can do to improve this, and how can they prevent the risk of aspiration?

The best way to manage these potential complications is to get involved with a specialist that can identify where the problems are. Identify if exercises can help. If the disease becomes severe enough that you have difficulty swallowing and you really can’t do it, sometimes you have to think about the use of a feeding tube. A feeding tube is just a way of bypassing the whole swallow. By inserting a tube that goes through the skin directly into the stomach, it allows you to get nutrients straight to the stomach. It doesn’t mean you can’t eat. You can still eat. You can use your mouth just like you would for ice cream or anything. But if there’s a situation where you’re worried about aspiration, you don’t have to worry about that, because you can get all the nutrients you need directly into the stomach.

The complications that we’re going to look for would be whether we need different ways to provide the swallow if it gets bad enough. In milder cases, are there tricks? Are there ways that we can delay the need for a feeding tube? Working with a speech and language pathologist is going to help you try to prevent that.

Diet is another important part that we didn’t even talk about. There are a lot of data out there about which diets are helpful. You want a diet that’s going to be appropriate, and that’s where the nutritionist can help. There aren’t specific SMA diets. There’s no diet that’s been proven to be particularly beneficial. Working with a nutritionist to make sure you get enough calories and are eating the right foods can make a huge difference.