How do you diagnose cmt

For more on getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century. A positive genetic test result can provide a definite diagnosis and useful information for family planning. But once again, a negative genetic test result does not rule out CMT.

Skip to main content. Search MDA. Search Donate. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Klein CJ. Charcot-Marie-Tooth disease and other hereditary neuropathies. Charcot-Marie-Tooth disease fact sheet. National Institute of Neurological Disorders and Stroke. Accessed Dec. Kang PB. Charcot-Marie-Tooth disease: Genetics, clinical features and diagnosis.

Facts about Charcot-Marie-Tooth disease and related diseases. Muscular Dystrophy Association. Neurotoxic medications. Charcot-Marie-Tooth Association. Simon RP, et al. Sensory disorders. Couples with a family history of CMT who are thinking of having a baby can be referred to a genetics specialist for advice. A genetic counsellor can help you work through the decision-making process and explain possible tests that can be carried out and any alternatives you may want to consider, such as adoption.

The main tests that can be carried out during pregnancy to check if a baby will develop certain types of CMT are:. If these tests show that your child is likely to have CMT, you can discuss with your genetic counsellor whether you want to continue the pregnancy or have a termination abortion. It's important to be aware that the results of these tests will not indicate how serious your child's CMT will be.

This is because the symptoms and progression of the condition can vary widely, even among family members with the same type of CMT. It's also important to bear in mind that both tests can slightly increase your chances of having a miscarriage. PGD involves using in vitro fertilisation IVF , where eggs are removed from a woman's ovaries before being fertilised with sperm in a laboratory. After a few days, the resulting embryos can be tested for certain types of CMT and a maximum of 2 unaffected embryos transferred into the womb.

For example, you may be considered ineligible for PGD on the NHS if you already have unaffected children or if the chances of having a successful pregnancy are thought to be low. You may also be given orthopedic devices, such as braces and splints, to prevent injuries due to weak legs and to increase your stability.

If you have a severe foot deformity, it may be treated by a combination of orthotics specialized shoes and surgical corrective procedures. The severity of CMT symptoms varies from one person to another. CMT can lead to deformities and loss of sensation in your feet. To help relieve symptoms and prevent complications, inspect your feet daily for wounds, ulcers, and infections. Wear properly fitted shoes that provide good ankle support. If you have foot deformities, consider investing in custom-made shoes.

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