CMT=Charcot Marie Tooth Disease Type 2 Neurological Disorder form of MD

Posted by GreenGrandma @greengrandma, Feb 4, 2012

It started out w restless leg syndrome, then my feet started burning as I sat at my desk @ work. It got so intense that I could not be in sitting position 5 minutes. Finally had to go to bed 24/7 for 2 years except to pee about 8 times a day. I do not suggest that you do that as your muscles can atrophy. I could still walk but I lost my fluidity of motion, nothing has brought that back. I prayed daily to die, because of God, I never tried to take my life. I now go to a pain therapist. It took about 11 years, to diagnose CMT. (5 yrs. ago) I have gone through hell and back. Physical therapies, paralysis, foot deformities, 11 corrective surgeries but Life is worth living after all. Hope 2 Help!

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our 12 year old daughter was just diagnosed today with CMT. We are s distraught. Please anyone with a one child pre teen give us some hope

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@jtring

our 12 year old daughter was just diagnosed today with CMT. We are s distraught. Please anyone with a one child pre teen give us some hope

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If you are still out there, I would love to talk to you. My son is 13 and likely has CMT. We are scheduled for testing in a few weeks. Since you’ve been dealing with this disease for several years now I was hoping you could give me some insight.

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@artmom78

If you are still out there, I would love to talk to you. My son is 13 and likely has CMT. We are scheduled for testing in a few weeks. Since you’ve been dealing with this disease for several years now I was hoping you could give me some insight.

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Hi, @artmom78 – welcome to Mayo Clinic Connect. As you indicated your son likely has Charcot- Marie Tooth disease, you may be interested in the following Mayo Clinic information on this condition:
https://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/symptoms-causes/syc-20350517?utm_source=Google&utm_medium=abstract&utm_content=Charcot-Marie-Tooth-disease.
While hoping that @jtring and @greengrandma will return and share some insight on the disease, I'd also like you to meet @johnbishop @danielad and @montanagary.

What have your son's symptoms been like, @artmom78?

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Hi, @artmom78 – I would like to add my welcome along with @lisalucier and others. Like Lisa, I'm also hoping that @jtring and @greengrandma return and add some insights on the disease. There are a few articles I've found that may provide more information for you.

Scientists zero in on treatment for Charcot-Marie-Tooth disease – March 8, 2018
https://www.sciencedaily.com/releases/2018/03/180308120544.htm

Experimental Treatments for Charcot–Marie–Tooth Disease (CMT)
https://charcot-marie-toothnews.com/experimental-treatments-for-charcot-marie-tooth-disease/

CMTAusa.org – Treatment & Management
https://www.cmtausa.org/resource-center/treatment-management/

@artmom78 is your son apprehensive about the upcoming tests or do you have any questions on the tests?

John

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@barbbie

Have just been dx with Cavovarus foot deformity, which often results from an imbalance of muscle forces, is commonly caused by hereditary motor sensory neuropathies. This dx came when some how I injured myself and I don't know how or when and ended up with ridiculous pain and swelling in the peroneal tendon. I looked up the term cavovarus and that reminded me of what I saw growing up. I believe my mother, her cousin, and aunt all had Charcot Marie Tooth simply first of all by appearance and then by increasing weakness and loss of muscle in both legs.
I have also been dx with small fiber neuropathy by two biopsies, as well as CRPS in both feet. I drop things on a regular basis without realizing it until the object is on the ground. I need to hold a pen and write daily or writing is not legible.

I am most concerned about my 16 yr old granddaughter as I feel she has inherited this. I have already spoken to our PCP, a very talented DO, about this and have an upcoming appt. I would love to hear from anyone who has any experience with this.

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Looks like there is a definitive test:
Found this:-We report a 14-month-old toddler. The child presented with symptoms such as unsteadiness and ataxic gait along with decreased motor and sensory action potentials of the limbs. As the father of the child was diagnosed with Charcot-Marie-Tooth 1A disease, a genetic analysis of the PMP22 GENE was performed confirming the diagnosis of Charcot- Marie-Tooth 1A in the child, too.
This case underscores the significance of an appropriate neurological assessment.

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Have just been dx with Cavovarus foot deformity, which often results from an imbalance of muscle forces, is commonly caused by hereditary motor sensory neuropathies. This dx came when some how I injured myself and I don't know how or when and ended up with ridiculous pain and swelling in the peroneal tendon. I looked up the term cavovarus and that reminded me of what I saw growing up. I believe my mother, her cousin, and aunt all had Charcot Marie Tooth simply first of all by appearance and then by increasing weakness and loss of muscle in both legs.
I have also been dx with small fiber neuropathy by two biopsies, as well as CRPS in both feet. I drop things on a regular basis without realizing it until the object is on the ground. I need to hold a pen and write daily or writing is not legible.

I am most concerned about my 16 yr old granddaughter as I feel she has inherited this. I have already spoken to our PCP, a very talented DO, about this and have an upcoming appt. I would love to hear from anyone who has any experience with this.

REPLY
@barbbie

Have just been dx with Cavovarus foot deformity, which often results from an imbalance of muscle forces, is commonly caused by hereditary motor sensory neuropathies. This dx came when some how I injured myself and I don't know how or when and ended up with ridiculous pain and swelling in the peroneal tendon. I looked up the term cavovarus and that reminded me of what I saw growing up. I believe my mother, her cousin, and aunt all had Charcot Marie Tooth simply first of all by appearance and then by increasing weakness and loss of muscle in both legs.
I have also been dx with small fiber neuropathy by two biopsies, as well as CRPS in both feet. I drop things on a regular basis without realizing it until the object is on the ground. I need to hold a pen and write daily or writing is not legible.

I am most concerned about my 16 yr old granddaughter as I feel she has inherited this. I have already spoken to our PCP, a very talented DO, about this and have an upcoming appt. I would love to hear from anyone who has any experience with this.

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Hi, @barbbie – I moved your post here to this existing discussion on Charcot Marie Tooth so you can speak to others like @artmom78 @johnbishop @jtring @greengrandma and they can share their experiences with you. They may also be able to share anything they've learned or witnessed about the heritability of this disease.

How is your mobility currently?

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Mobility is getting more painful and slower.. I use a power chair around the house for doing a lot of things. I haven't been elevating and resting as much as directed so pain level is not decreasing. Driving is becoming painful since I did something to cause peroneal tendinitis. My husband died last month and I have been having a tough time with everything. Hopefully I will get it together in the not too distant future. Thanks for referring this over.

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Oh I am so sorry to hear about the death of your husband. My late husband died almost 11 years ago and I cried for 1 1/2 years every day. I was in therapy with the bishop of my church for two years until I met my present husband. It is a very long journey. Now that you are in pain both me and physically, you may need a lot of support. We are here for you. Just talk to us and maybe will be able to get you through some of the more difficult stages.

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I meant to type “both physically and mentally “

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@darlingtondoll

Oh I am so sorry to hear about the death of your husband. My late husband died almost 11 years ago and I cried for 1 1/2 years every day. I was in therapy with the bishop of my church for two years until I met my present husband. It is a very long journey. Now that you are in pain both me and physically, you may need a lot of support. We are here for you. Just talk to us and maybe will be able to get you through some of the more difficult stages.

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Thank you so much for your kindness and sharing about your journey. It is truly the most difficult time in life in some ways and in other
ways there is also hope for the future. My husband's last four years were tough on him, especially with the dementia and the fear, the unknown, the not understanding where he was, who I was. He was in a home hospice program and I was the main care giver. I had prayed probably four days before he died that God would have mercy on both of us and bring him home. It was so painful to watch and painful for him to go through. Being Christians we know heaven is our home and I felt joy for him and sadness for me.

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@barbbie

Thank you so much for your kindness and sharing about your journey. It is truly the most difficult time in life in some ways and in other
ways there is also hope for the future. My husband's last four years were tough on him, especially with the dementia and the fear, the unknown, the not understanding where he was, who I was. He was in a home hospice program and I was the main care giver. I had prayed probably four days before he died that God would have mercy on both of us and bring him home. It was so painful to watch and painful for him to go through. Being Christians we know heaven is our home and I felt joy for him and sadness for me.

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Oh my goodness. Your journey is similar to mine. My husband had dementia for 13 years and also got a rare form of leukemia six years before he died. We also had home hospice. Sometimes he was Dr. Jeckyl and other time he was Mr. Hyde. I never knew what mood he would be in from time to time. But I loved him so deeply that it was a pleasure to care for him. He didn’t like to have anyone else in the house and wanted me by his side all the time. We were joined at the hip. Even with the dementia, he would tell me he loved me several times every day. It was an honor to care for him. He was a great man and we had a very happy marriage for almost 40 years. He was from Paris and we went there frequently. When he was close to the end, I asked him if I could leave some of his ashes in Paris. After talking about where I should do this, we decided that the kids and I would drop them off the Eiffel Tower. Most of his ashes were buried in a military cemetery, but I saved several small bunches and the kids and I dropped them off the Eiffel Tower on Christmas Eve.

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