Re: I'm new here - diagnosing

[Guest guest]

<< My thought was to give the children the blood test first, then if cmt

shows up (cmt1, etc.) you and your mother would know what you have also

without taking the tests. >>

But if the family has a type that is not included in the blood tests it won't

help. Most types are not included in the current tests.

CMT does present problems in children especially when the parents are not

given an accurate diagnosis, and the condition is not explained to them.

Children appear very clumsy and awkward, and this can become a means of

ridicule to their peers. They feel very different when they can't join in

sport and games.

http://www.CMT.org.uk/

Diagnosis is usually made through a physical examination that includes tests

of muscle function and sensory responses, supplemented with a laboratory test

(electromyogram) that measures the electrical activity of muscle cells. In

addition, a complete family medical history is taken to determine if the

patient's disorder is an inherited one. In some cases, nerve and muscle

biopsies may be done to enable the physician to confirm the diagnosis,

especially when symptoms are very mild and family history of the disease is

not apparent. Both electromyography and muscle biopsy tests help to

distinguish between the hypertrophic and neuronal types of the disorder.

http://www.mda.org.au/index.html

Dept. of Neurology, Detroit

First, although you may indeed have CMT type 2 the type of CMT cannot be

simply diagnosed because of a clinical onset at 23 years of age. There is

actually a lot of variability among degrees of weakness and sensory loss in

patients with type 1 and type 2. To distinguish between type 1 or type 2

typically requires nerve conduction velocity testing. Most patients that we

see with CMT type 1 or type 2 do not lose all feeling in their feet although

the disease is slowly progressive. Numbness, pain and temperature sensations

are usually mediated or controlled by small nerves, without much myelin, and

these tend to be relatively spared in most types of CMT compared to larger

nerves which help us localize where our feet are in space and help our

balance. However, even this large nerves usually continue to function at some

level in most CMT patients. Moreover, as a rule, most patients who don't

present with any disability until their 20's tend to have milder courses.

High arches and curled toes are typical in CMT .

Kat in Seattle