I have yet to have the formal dx of CMT however my emg tests show zero conduction on some nerves and very slowing on others both arms and legs. I have noticed that on some days I have energy and other days, it is a struggle to get through the day because of fatigue, weakness. I have severe neuropathy in feet and take medication daily for pain control.. I have noticed now that repetitive motions such as holding a car wash hose and washing the car will affect me by severe weakness in that arm and an inability to hold a pen or fork for hours afterwards. My mother has been dx with CMT by blood testing.. Will I have to undergo muscle or nerve biopsy to have this testing completed or is the blood testing sufficient, and are these symptoms typical of CMT or worse??
Thanks for your question. The symptoms described in your message can be
found in Charcot-Marie-Tooth Disease (CMT). Until the develop of recent
DNA test, it was fairly common to obtain a biopsy of peripheral nerve
(e.g. sural nerve near the ankle) for a proper classification of the
subtype of CMT. For instance, CMT type I is classically associated with
lesions to the myelin (fatty covering) of peripheral nerves and the so-called
"onion bulb formations". On the other hand, in CMT type II nerve biopsy
would reveal axonal loss (i.e. loss of the nerve conducting fibers) without
significant loss of myelin.
The common forms of CMT have automossal dominant inheritance, that is
only one of the parents needs to have the genetic lesion to pass it to
the offsprings. There are automossomal recessive, as well as
X-chromossome linked forms of CMT, but they are less common. Currently,
a DNA blood test can be performed as a screening test, but nerve biopsy
could still be performed in some cases.
If you live near the Cleveland area, the Neurology Department at the
Cleveland Clinic has a group of physicians specialized in Neuromuscular
Diseases (Drs. Levin, Mitsumoto, Pioro, or Shields). If you would like to
make an appointment please call 1-216-444-5559 or 1-800-CCF-CARE.
I hope this information is helpful.
This information is provided for general medical education purposes only.
Please consult your doctor regarding diagnostic and treatment options.
Copyright 1994-2018MedHelp.All rights reserved. MedHelp is a division of Vitals Consumer Services, LLC.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.