Charcot-Marie-Tooth Disease Types and Treatment

Thank you for the information! I was finally diagnosed with CMT by a neurologist 3 months ago, at age 42. I had been diagnosed with RA at age 5 in the Dominican Republic, my country of birth. I remember needing orthopedic boots for my feet, an orthopedic strap to correct scoliosis, and having an orthopedic bed. Unbelievable clumsiness that would get me lots of falls! However, when I moved to the U.S.A. nobody wanted to believe that I was hurting and struggling, or that my childhood happened at all. Doctors and friends claimed I was too young and/or I was looking for attention. I was ignored and suffered in silence for years! In 2008 I became ill enough to be sent to an Infectious Diseases doctor who could not find anything that he could treat. But he found a rheumatoid factor over 620, plus other odd numbers. He sent me to a fantastic rheumatologist who, not only diagnosed my RA (again), he also figured out what those odd numbers were: Cryoglobulinemia Vasculitis type 1, and I needed an emergency trip to a thyroid doctor, because he was sure I had cancer as well. Indeed, 3 months later, I lost my thyroid to Papillary Carcinoma. In 2015, my rheumatologist found dead bone in my left knee due to an infarct. I am still not able to have a replacement. After much complaining about my left hip, it was found my labrum was torn, so I was sent to a hip surgeon. The hip surgeon diagnosed me with Congenital Hip Dysplasia and declared I have to live with the pain until I qualify for hip replacement. It has been a long road! Today, I struggle with neuropathies, fatigue, aches, pains, weakness, pins and neddles, numbness, and burnin pain that affect mostly the left side of my body, including face.

Persons making comments which are attempts at scamming patients with false promises will be removed !!

That's the reason we need CMT grants and physicians that are knowledgeable about this!!! And I am not referring to grants that research for 30+ years to satisfy some grant principal investigator's high salary like most research grants do!! It is ridiculous that doctors have no clue about CMT .... at least in Mississippi! Folks have to go out of state for treatment. We need good smart docs that know how to treat this!!!!.

Thank you so much for explaining my CMT1A diagnosis in laymen terms. I've had to do my own research on this. My doctors have never broken this down to me in a way that I could understand, as if they don't have basic knowledge of it. I see the effects on the internet, and that it's genetic, but not the scientific makeup of this disease. Blessings to you for sharing.

Thank you Dr Freilich. Strange - I have Type 1A and have had issues since being a very late starter to walk. It's progression is very slow. Now I understand a bit more.

Thank you very much, my local doctors are aware I have and haven’t done anything. Also the hospital I was diagnosed at hasn’t made an appointment for my CMT yet and it’s been just over 4 months. Thank you all the information!!

These patients typically presents to orthopedic surgens. Rendering to their foot deformity and orthopedic surgens has lot to offer ... Especially in developing countries. Rest information is superb.

I just looked.... I stole the first of what she said down below.... See you make a difference. Thank you thank you

Thank u. That’s helped me a lot in my research for CMT

Thank you Doctor, for the video. I’m 51 years of age, and I have cmt , at the present moment I’m walking with a walking cane, in order to maintain a good balance. It’s very difficult for me , because I had to retire at a very early age due to my condition.

Thanks for this amazing concise lecture.

Thank you for this video. I can refer friends and family to this video for a better understanding of the disease.

Finally a video I can understand! Had cmt all throughout only diagnosed at 14 though. Reaching 30 and my body is acting like a 100yo 😫

I’m so curious because I know they say that CMT is genetic, but I am the unicorn of the family. Neither of my parents have it nor does my sibling he is a carrier of one gene but will not inherit it or pass it on. I have actually done an ancestry background check and no one from my grandparents, to my great grandparents or great great grandparents had it. And none of their children or those children’s children have had it. I am the singleton in the entire family that has it and I wonder if it’s because I was born premature by nine weeks and it didn’t allow me to develop properly.

I had surgery on my feet a few years ago I'm 32 and I can barely walk and my feet are always in severe pain and I walk on my ankles pretty much

Very good lecture. A high foot arch is found in CMT but can also be found in Freidrich's ataxia too.

Doctor U forget about one type of CMT which is HNPP ... I think that it is also one type of CMT. Did You agree witch me? I'll be glad if You will write something about difference between CMT1A and HNPP.. I think that HNPP is less harmful...But I'm impressed.. You have a big knowledge. Regards

I've been diagnosed with this and I'm so miserable.

I am still waiting for a diagnosis to come back.... but i started feeling neuropathy in my early to mid 20s, I've been big my whole life ( 6'1 300 pound range) so they always assumed it was diabetes but my glucose levels are always normal. It comes back frequently and subsides. every so often I get numbness tingling and pain in my leg that spreads throughout and then dissipate. Each time these pains come back often more widely spread. I thought it might be the inflammation from foods i am eating, but after a lean protein diet for 2 months , the pain has still gotten progressively worse. Cmt would explain so much if I did have it.

Excellent presentation ! Thanks for sharing 👍