Charcot Marie Tooth:

How is it diagnosed?

Dr. Fernando Noriega

@drfnoriega
http://www.drfernandonoriega.com/

CMT is diagnosed using a number of tests including:

physical examination strength testing and assessment of reflexes
and sensation. Common findings in CMT are loss of the muscle stretch
reflexes (especially the ankle jerks), and weakness with lifting the feet
(ankle dorsiflexion) and bringing the thumb upwards (thumb
abduction)
nerve conduction tests used to determine which form of CMT is
present; nerve responses are much smaller in axonal CMT, while
conduction of impulses down nerves is much slower in demyelinating
forms of CMT genetic tests to identify the abnormal gene. CMT
Type 1A can be diagnosed using a relatively routine test called a
chromosome microarray. Genetic testing for other types of CMT is
less readily available.

 biopsy small samples of tissue are removed and examined in a

laboratory. Either nerve or muscle tissue (or both) may be examined.
This is not commonly done and is usually unnecessary if a genetic
abnormality is found.
If you have early symptoms of Charcot-Marie-Tooth disease (CMT),
your GP will ask about your symptoms and whether there is a family
history of it.
What should happen now?
Once you have been diagnosed the following steps, or similar, should
happen.

Ideally, you should have the following:

1) You should receive a copy of your clinic letter. Ideally this will be
phrased in such a way that you can show it to your other family
members to explain your diagnosis and to help explain to them that it
would be a good idea for them to see a specialist too.
2) Follow up appointment within a month of diagnosis probably with
a specialist nurse, geneticist.
3) Find out as much information as you can about CMT.
4) Get a referral to see a physiotherapist with good understanding of
neuromuscular conditions and an orthotist, if necessary.
5) A system should be put into place that if you discover other, new,
symptoms they can be checked to see whether these symptoms have
anything to do with CMT or not.

6) Within two or three months, you should have a follow up clinic. And
as part of this clinic
you should be given information on:
a) CMT
b) Disability living allowance (if needed)
c) Mobility issues
d) Occupational help, if necessary.

Do you suffer from Charcot Marie Tooth disease? Learn

everything you need to know about to find the best
treatment for your case.
Charcot Marie Tooth is a hereditary peripheral neuropathy with
different variants which requires a very specific type of treatment to
be carried out by a specialist. If you suffer this disease in the Guide
you will find everything you need to know about how to find the best
treatment for you.