Is it worth it to get a diagnosis when an incurable disease is suspected?
Health Q & A with Dr. Michael Jacobson, D.O.
Q: My doctor thinks I might have Charcot-Marie-Tooth disease. It appears to be late onset with mild to moderate symptoms affecting my feet and leg muscles. I have numbness in my feet and hands extending up my calf muscles with significant weakness and atrophy and fatigue.
After doing some internet research, there doesn’t appear to be any cure for the disorder and treatment recommendations seem to focus on reducing symptoms. What can you tell me about this disorder and any recommendations you might suggest? Is getting a neurologist’s diagnosis worth the cost and effort?
A: I’m very sorry to hear of your tentative diagnosis of Charcot-Marie-Tooth (CMT). CMT is the most commonly inherited peripheral nerve disorder, affecting one in 2,500 Americans. It involves slow destruction of the nerves that supply a person’s extremities. The disease’s onset varies from person to person, as does the severity and rapidity of its progression.
You’re correct that there doesn’t appear to be a cure for CMT (it’s genetic). I still think there is significant value in confirming the diagnosis and getting “plugged in” with a specialist who is familiar with the disease’s management and resources from which you may benefit.
I also suggest that you continue to monitor the Charcot–Marie–Tooth Association website for information and that you consider one of the many studies (there are currently 113 in the USA) found at clinicaltrials.gov (search for CMT in the United States).
If you have a health question for Dr. Jacobson, CHM Medical Director, please email it to email@example.com. This information is not intended to replace the advice of your physician.