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.
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