An anesthesiologist called me today to check about the risk of Malignant Hyperthermia in an adult patient who had been diagnosed as having either Charcot -Marie-Tooth disease or Arthrogryposis. It is hard to believe that an adult patient doesn't have a more accurate diagnosis, but this seems to be fairly common problem in the U.S. now with the minimal amount of training neurologists and orthopedists get in these disorders.
I asked if the young man had had nerve conductions times done and he said the mother did not know the answer to that question. Then I asked if he saw high arched feet and he said 'Yes." I suggested then that the doctor ask the mother if any family members had difficulty buying shoes. This is a common complaint of Charcot-Marie-Tooth patients. I also suggested he looked at the mother's hands to see if she had any muscle loss and decrease in strength; also a common symptom in this disorder.
I added further that if the patient had a form of arthrogryposis that it could actually be a case of congenital muscular dystrophy. This would make the risk of Malignant Hyperthermia more possible. Any patient can have two disorders, but by the time a patient becomes an adult, an accurate diagnosis should be established. We are tragically far behind many other countries in the world in the diagnosis and treatment of patients with neuromuscular disorders.