TalkNew Charcot-Marie-Tooth Disease Gene
Charcot-Marie-Tooth disorder is one of the most common inherited neurological disorders – it affects 1 in 2,500 people in the U.S. This label actually refers to a group of related conditions that affect the body’s peripheral nerves, resulting in pain and muscle weakness in the feet and legs.Until now, the genetic causes for 70% of Charcot-Marie-Tooth cases have been known and genetic testing can help guide treatment for affected individuals. It can also help family members determine their risk.
Now another 5% or so of these families will be able to identify their genetic cause of Charcot-Marie-Tooth. Geneticist Miriam Meisler and her team at the University of Michigan have identified a mutation in a gene (FIG4) in both mice with similar symptoms and people who have Charcot-Marie-Tooth disorder. We can expect this discovery will lead to new strategies for treating the symptoms of this form of the disorder.
(Photo: Mouse with FIG4 mutation, thanks to Miriam Meisler)
Read more on this discovery:
December 2nd, 2007 at 1:37 pm
i AM A 37yr old mom that was diagnosed nin 2001 I am looking for treatments especially for pain and any answers I can ffind
December 3rd, 2007 at 5:41 pm
Hi Dawn, I’m sorry to hear of your pain and wish you the best in your search for effective treatment and answers. I wish I could help you, but I don’t have expertise in this area. My only advice would be to hook up with advocacy organizations, as they are usually great resources for information, personal support and referrals to specialists.
December 3rd, 2007 at 5:46 pm
Whoops, I hit “post” too soon: You might start with theGenetic Alliance, who can point you in the direction of an organization that may be more targeted to your diagnosis.
December 10th, 2007 at 6:44 pm
The people at CMTUS know all about pain with CMT and can help you with their experience and how they manage.
December 18th, 2007 at 5:29 pm
Thanks for the resource, Beverly. If anyone else has additional advice, please post it.
October 25th, 2008 at 5:26 pm
Hi, I’m 28 years old Indonesian woman. I’ve been diagnose for CMT this year. I had the symptom since 16 years ago but I’ve never know about this disease. The doctor recommended me with a genetic test through a nerve biopsy. Since there’s no information about that disease in my country, I have no idea whether should I proceed with the test. Will the genetic test helpful for my treatment? Does it hurt to have a nerve biopsy? Thank you for any response
November 13th, 2008 at 11:34 am
Hi Soraya - The genetic testing for CMT can be done from a blood sample. It is an important test to confirm your diagnosis because there are many different types of CMT and there are also different medical conditions that have the same symptoms as CMT. Learning your specific diagnosis is important for your treatment plan. For example, there are specific medications that people with CMT should not take. The results of your genetic test may also be important for other members of your family. You should ask your doctor about the nerve biopsy procedure.
You can get a lot more information from the CMT Association website http://www.charcot-marie-tooth.org/