How is Charcot-Marie-Tooth Disease diagnosed?

CMT is diagnosed Most commonly through genetic screening done by a professional genetic doctor

The appearance of lower limbs weakness

Neurologists usually start with nerve conduction tests. Testing reflexes. Family history. Best way to diagnose CMT is with gentic testing, however it is expensive and many insurance companies won't pay for it.

Nerve conduction studies
EMG

Family history, nerve conduction tests and genetic testing

To diagnose CMT, your doctor will order tests to help determine the cause and extent of your nerve damage. These tests may include a nerve conduction study, electromyography, nerve biopsy, and genetic testing.

Not every family doctor can noticed the symptoms of CMT. For me to be diagnosed I had to switch my family doctor and he sent me to a foot specialist. That foot specialist sent me to a neurologist and that is where I was given tests, Genetic and other tests with needles. I think that to be diagnosed with CMT you have to have a genetic test, probably more than one. There is also a couple other test to show how you walk if it is to that point of CMT.

CMT is diagnosed by blood test or nerve conduction test. It is good to have a neurologist, orthotist, podiatry.

These days by a simple blood test.
Type 1 is caused by a duplication of the protein PMP-22 on Chromosome 17.

I forget what the test was. But it shocked the heck out of me. Painful test

Neurologists usually make the diagnosis with either an EMG or nerve biopsy. Genetic testing is also available.

Genetic tests, familial history, examination and nerve conduction studies, although the nerve conduction studies are not diagnostic but indicate there is a problem with nerve conduction.

Neurologist visit, a nerve conduction survey and/or nerve biopsy.

Nerve conduction, hammer toes, high arch or flat feet, champagne legs. Hypermoblity in hands and feet.
A gene test by blood work
No cure at moment so just braces, walkers,canes, opthepidic

CLINICAL EVALUATION, MRI OF BRAIN AND SPINE, ELECTROMYELOGRAM, GENETIC TESTING

It can take a long time to figure out that a patient has CMT. If you are aware of others in your family with similar physical difficulties then that can be helpful as CMT is inherited. There are those that can spontaneously develop it though.
Listening to a patient, checking them out physically for reflexes is a help. Most do not have reflexes because of diseased nerves. EMG’s will show absent or delayed nerve impulses when done and are definitely a prognosis tool. Getting a family history is very important. I inherited it from my mom who inherited it from her dad. The genetic pattern can determine what you have. Genetic tests often will be of value. Nerve biopsies can show if the nerves are affected. X-rays are of no value in the diagnosis.
Once you have been diagnosed with CMT you should be seen by a neurologist. There is not a cure but there is help found by seeing a neurologist and an orthopedic doctor familiar with CMT. Many foot and hand deformities can be helped with surgery. Sleep apnea is also common with CMT so seeing someone for an evaluation of your sleep should be done.