Charcot-Marie-Tooth Disease

[GAdoc]

Hi...I've never posted on the neurology forum before, but yall can probably best answer my question.

I'll be starting medical school this coming fall. I've always been interested in surgery, but my maternal grandfather told me I should reconsider since he has been diagnosed with CMT Disease. He is currently 70 and was diagnosed about ten years ago. It mostly affects the feeling in his feet, but recently his hands have been affected. His brother has also been diagnosed, with an onset at an earlier age.

Obviously, any disease that affects the hands can be a problem for a surgeon. First, what are the chances of my inheriting the disease. Second, how should it affect my decision to go into surgery? Thanks!

---

Members don't see this ad.

 

[neurologist]

Hi...I've never posted on the neurology forum before, but yall can probably best answer my question.

I'll be starting medical school this coming fall. I've always been interested in surgery, but my maternal grandfather told me I should reconsider since he has been diagnosed with CMT Disease. He is currently 70 and was diagnosed about ten years ago. It mostly affects the feeling in his feet, but recently his hands have been affected. His brother has also been diagnosed, with an onset at an earlier age.

Obviously, any disease that affects the hands can be a problem for a surgeon. First, what are the chances of my inheriting the disease. Second, how should it affect my decision to go into surgery? Thanks!

I'd be more interested in hearing if your mother is symptomatic, rather than your grandfather. It's autosomal dominant, so if your grandfather has it, your mother would have a 50/50 chance of getting the gene. If she has it, you have the same 50/50 chance. However, it's very variable in expression, so people in the same family with the gene may have different degrees of clinical symptoms.

If you really want to know if you have the gene or the syndrome, you can go to a neurologist and get nerve conduction testing (even if you're currently asymptomatic, your nerve conductions may still be abnormal). Or, get genetics testing if you have a couple thousand bucks to spare. Keep in mind that a positive result in either test will likely impact on your future insurability.

I don't think anyone can sit here and realistically tell you what you will be like 20 or 40 years from now. But if your grandfather was diagnosed in his 60's and if your mother has no significant symptoms at this point, I wouldn't worry too much about your surgical career being cut significantly short.

 

[GAdoc]

Thanks a lot...that's kind of what I was thinking, but I wanted to hear it from someone more qualified than myself.

My mother is definately asymptomatic and she is 50. Her sister and brother (my aunt and uncle) are also asymptomatic and they are 45 and 40, respectively. However, none of them has ever been tested.

I do not have a couple thousand bucks to spare on genetic testing, and as you mentioned the degree of symptoms can vary anyway. More than likely, something other than CMT would keep me out of surgery, and if I do decide to go that route, being able to practice even to 50 or 55 would be fine...then I could always get an academic job.

Thanks!

 

[ariwax]

Actually, though autosomal dominant is the most common form of CMT, there are also autosomal recessive and X-linked dominant and recessive forms. See if you can construct a a pedigree chart with affected and nonaffected family members.

I agree that this should in no way influence your choice of specialty. Why let your career and your sense of personal fulfillment be stunted by a handicap you don't even have, and most probably never will?

 

[GAdoc]

Thank you...that really does make me feel better. A person could talk themselves out of almost anything by sitting around worrying about all the things that could happen. The bottom line is I'm probably more likely to die instantly in a car crash than to develop some of these far out diseases. Sometimes, ignorance is bliss.

 

[ilovemn]

Hello,

I know this discussion is very old, but I had a question that is very similar to this one. I have actually been diagnosed with Charcot Marie Tooth disease. I was diagnosed when I was a sophomore in high school and now I am a freshman in college. This disease runs pretty strongly in my family (my brother has it, my mother has it, my aunt has it, etc. etc.). My only symptoms at this time are tight Achilles tendon, high arches, weak ankles, tight hamstrings, and hammertoes. My dream for a while now has been to become a physical therapist, but I'm wondering if my disease will affect my performance in this field, since this is a very progressive disease. I thought maybe the knowledge of the human body would help me better take care of myself and my loved ones. I would love to go into something in the medical field otherwise. Is there a better alternative for me? Or should I stick with it? I've also considered occupational therapy. I am getting very good grades right now, so that shouldn't be a problem. Thoughts? Thank you!

 

[CheruiyotOfFire]

Honestly if its your dream I would go for it. Acknowledge that you may develop strength/functional deficits that your coworkers won't have to cope with. But as a PT, you'll be well equiped to determine make modifications in your techniques (or have additional aids for tasks which you may be unsafe to do at some point- like total assist transfers). If/when that point comes, you'll be well positioned in your career to transitioning to an area with less physical intensity and still be involved in what drew you to being a PT.