Charcot-Marie-Tooth disease (CMT) is a disorder that affectd the nerves that connect the brain and spinal cord to muscles and cells that detect sensations (peripheral nerves).
People affected by CMT related to variations in the NDRG1 gene can experience nerve damage causing weakness and loss of sensation in the feet and ankles. The severity can vary significantly between individuals however, usually begins in childhood and makes movement difficult.
Many people with CMT related to NDRG1 experience progressive hearing loss which often leads to deafness by 30years of age. Some patients have muscle weakness and wasting, damaged nerves, and skeletal abnormalities.
Treatment is focused on managing the individual's symptoms.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Charcot-Marie-Tooth disease (NDRG1-related), but there's a total 301 conditions that can be tested.
Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for Charcot-Marie-Tooth disease (NDRG1-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.