Wayne S. Berberian, MD, Chief of Foot and Ankle Service, Department of Orthopaedic Surgery, Hackensack University Medical Center, talks about a possible new drug to help treat symptoms of Charcot-Marie-Tooth disease.
Interview conducted by Ivanhoe Broadcast News in September 2017.
I want to ask you about CMT, what it stands for, and what it is?
Dr. Berberian: Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy disease that affects the peripheral nerves in the body. Most of the effects of Charcot-Marie-Tooth disease relate to the feet, ankles, or lower legs and it can also affect your hands.
What are some of the symptoms and when is onset? Is this something that happens and parents can pick up right at birth or is onset a little bit later?
Dr. Berberian: It’s not picked up at birth, but it can become noticeable during their teenage years. Actually, in the past, I had patients in their fifties who never knew they had it. They knew that there was something wrong with their feet but never really had an understanding of why, until it got very bad.
What are some of the symptoms?
Dr. Berberian: The main symptom is the development of what’s called cavus foot. Cavus foot is a very high-arch foot.
How is someone with naturally high arches different from someone with cavus foot?
Dr. Berberian: There are many different potential causes for high arches including what we call idiopathic causes. Unfortunately, we currently do not have the answer for idiopathic causes. But in terms of the identifiable reasons for high arches, Charcot-Marie-Tooth Disease is the most common. With the high arch comes what we call varus or turning of the foot. Varus is when the heel of the foot, points in towards the midline of the body.
Is this often with both feet or is it usually stronger on one side or the other?
Dr. Berberian: It’s always bilateral. If you have someone with what’s called a unilateral cavus foot, it means they are developing cavus foot only on one side, and the other foot is normal, which is something that has to be investigated very carefully and quickly. It could mean that there’s something else going on like spinal cord pathology that has to be stopped. But Charcot-Marie-Tooth is a bilateral disease, it affects both feet and one foot may be much worse than the other.
But still have it on both sides?
Dr. Berberian: Correct.
What kind of difficulties, and are there varying degrees of the condition? What kind of difficulties does that provide for patients?
Dr. Berberian: Yes, there are different degrees of penetrance of this condition. In other words, you may have two people with the same type of Charcot-Marie-Tooth disease; yet, one of them is barely affected and has some degree of high arches and small problems associated with the disease. In contrast, another person may not be able to walk. Thus, that’s one of the mysteries of this disease: why is one patient so profoundly affected while another patient is barely affected at all.
What are the treatments?
Dr. Berberian: Treatments center on the problems that the patients has. Each one of these diseases may have a different combination of problems. The most common thing that happens are frequent ankle sprains because their feet are turned in, towards the mid line and so they’re always stretching the outside lateral aspect of their ankles, and spraining their ankles. Also, the patients get what’s called the foot drop which is when their foot hangs down while walking and they are unable to lift it. Usually, when that occurs they may have trips and frequent falls. Yesterday, I operated on a patient who had Charcot-Marie-Tooth disease even though she had cavus feet and she had some of the other features, her main problem is that she had these very bad foot drops. Her attempt to walk was actually mentally painful thing for me.
What are the treatments?
Dr. Berberian: There are some new experimental medical treatments and protocols that are coming out, but at this point, I would say that medical therapy is really a minor part of the treatment of Charcot-Marie-Tooth disease. In the beginning, most treatment of Charcot-Marie-Tooth disease centers on the foot wear modifications, but then later on, when the disease gets more severe, surgery is then used as the primary treatment.
Talk to me about surgery, what do you do to correct the problem?
Dr. Berberian: The first thing I do is something called the Coleman block test in the office to determine whether the deformity in the back of their foot, is being driven by a forefoot deformity, or whether the hindfoot deformity is standing on its own. Once I determine that, I can decide whether a fusion is needed or whether I can do what’s called osteotomies and soft tissue reconstructions.
You actually have to reconstruct the foot in some cases?
Dr. Berberian: That’s correct.
Is it correct to say most cases its reconstruction?
Dr. Berberian: Yes, its reconstruction and also soft tissue releases. We may cut structures and release them or lengthen them. Structures like the plantar fascia on the bottom of the foot gets tight and so we do what’s called a Steindler stripping and we release that plantar fascia. The Achilles tendons may get tight in the back, may contract and if so we can do an Achilles tendon lengthening, then we also do what’s called tendon transfers. We may take a tendon from one area of the foot, and transfer it to another area of the foot to assist with the foot drop and prevent more deformity from developing
I wanted to talk a little bit about Dakota, when did you first meet her and what kind of concerns did you have, what kind of problems was she having getting around?
Dr. Berberian: I met Dakota about three years ago and she’s a tremendously sweet person. When I met Dakota, she was having trouble just walking around; she had tried wearing braces and it just wasn’t working for her. The best way I can describe it is that she was stumbling around.
What did you determine that you would be able to do?
Dr. Berberian: Well since she was such a severe case, we decided that we would do four separate operations on her. We were going to do both feet and we were going to divide each foot in to two surgeries one on the hind foot and then on the fore foot.
Four separate operations over a period of what time?
Dr. Berberian: It was probably about eight months.
Could you see improvement after each surgery?
Dr. Berberian: I did see improvement after each surgery, but once both surgeries were done on that particular foot, then we saw the big improvement. Technically, we were only doing half the foot, and just doing one part of the foot wasn’t sufficient to allow her to walk as well as, in comparison to both surgeries being done.
How is she now?
Dr. Berberian: The last time I saw her, she was doing great. She’s in college.
Is it still necessary for braces after this surgery, at least for Dakota?
Dr. Berberian: No, no she’s not wearing any braces.
You said it was so severe in Dakota’s case that she couldn’t walk. What is the impact of having these surgeries?
Dr. Berberian: I think it’s a tremendous impact because when you have to think about your feet all day, and you are trying to do the normal activities that most of us take for granted, it’s really a tremendous impediment. In Dakota’s case, she has such a strong will that she was able to overcome those obstacles throughout her life and become successful in spite of that. But taking away that impediment is really a tremendous plus.
How common is CMT and does it impact women more than men?
Dr. Berberian: Women are more likely to get certain types of CMT, but in men with these types, it can be a little bit more severe in terms of intensity.
Is there anything that you would want people to know?
Dr. Berberian: l think that people should know that this disease is treatable. Sometimes I see people who had such a severe case of it, that they’re wheelchair bound for years. I’ve had patients like that come into my office and they never really knew that it was treatable. They’ve been through maybe some general doctors and have been told that there’s nothing we can do for this. They should know that maybe we can’t give someone a normal foot in every case but we can make things a lot better for them.
Physical therapy, how long does that last? In Dakota’s case is she still in PT?
Dr. Berberian: No she’s not, but it does last for about three months after the surgery.
It’s got a unique name, are those for doctors that discovered it?
Dr. Berberian: That is correct. I know at least one of the doctors was French.
END OF INTERVIEW
This information is intended for additional research purposes only. It is not to be used as a prescription or advice from Ivanhoe Broadcast News, Inc. or any medical professional interviewed. Ivanhoe Broadcast News, Inc. assumes no responsibility for the depth or accuracy of physician statements. Procedures or medicines apply to different people and medical factors; always consult your physician on medical matters.
If you would like more information, please contact:
Sheri Hensley
Sheri.Hensley@hackensackmeridian.org
Scott Santiamo
Scott.Santiamo@russopartnersllc.com
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