Diagnosis

Diagnosis

CMT is a hereditary disorder, almost always caused by a genetic mutation that you inherited from one or both of your parents. There are more than 80 known genetic mutations that can cause CMT, and several more under investigation. The type of genetic mutation you have may determine what symptoms of CMT you have and when symptoms begin.

To diagnose CMT, your neurologist will use a comprehensive suite of diagnostic tests. This may include:

• A complete nervous system exam
• A questionnaire about your family history
• A blood test to identify genetic mutations
• Nerve conduction studies to assess the electrical signals in your nerves
• Electromyography to see how your nerves and muscles communicate
• A nerve biopsy, which involves looking at a sample of your nervous tissue under a microscope