Charcot-Marie-Tooth Disease Types and Treatment

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Neurophysiology

Neurophysiology

7 жыл бұрын

This video explains Charcot-Marie Tooth Disease (a #Hereditary #Motor and #Sensory #Neuropathy). I talk about the genetics, the neurophysiology and how they are integrated into it's classification.
I also describe a number of it's most common forms - #CMT1A (#PMP-22 duplication), CMT1B (MPZ), CMT2, Dejerine-Sottas Syndrome (CMT3) which I misspelled on the scrolling text - apologies, CMT4, CMT-X (Connexin-32) and HMSN 5,6,7 and Intermediate-CMT(AD/AR).
The video also provides a number of links to the CMT Association in the USA (www.cmtausa.org) and CMT-UK (www.cmt.org.uk) webpages, specifically regarding medications to avoid which can be found by following these links www.cmtausa.org/resource-cente... and cmt.org.uk/professionals/neuro...

Пікірлер: 127
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
Persons making comments which are attempts at scamming patients with false promises will be removed !!
@justkeepfishingt
@justkeepfishingt 3 жыл бұрын
What exam. should a person do to know if they have this condition.
@76Pou
@76Pou 5 жыл бұрын
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.
@drmubashir
@drmubashir 4 жыл бұрын
Ahh. Its really sad to read all this. But i pray to Allah to help u lessen your miseries. And you get a life full if joy hereafter
@GoodOlTimesOnlyGayer
@GoodOlTimesOnlyGayer 6 жыл бұрын
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.
@drkhaldoonalhafidh6243
@drkhaldoonalhafidh6243 6 жыл бұрын
Thanks for this amazing concise lecture.
@greatexp59
@greatexp59 4 жыл бұрын
Thank you for this video. I can refer friends and family to this video for a better understanding of the disease.
@yourmusichannel101
@yourmusichannel101 2 жыл бұрын
Hello doctor, thanks for this amazing lecture! Just a question - can CMT3 with the early onset be treated with surgery to an extent?
@user-dn9vd9xg9p
@user-dn9vd9xg9p 2 жыл бұрын
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!!!!.
@psisky
@psisky 5 жыл бұрын
Would love if you could quickly comment on this. I was diagnosed with myotonia congenita 20 years ago when I was 34 after a lifetime of the stiffness and falling over. I now have other symptoms. Could it be the onset of dystrophy that I have instead? e.g. For the last 3 years I have been sleeping terribly and I have uncontrollable drowsiness at times throughout the day, like I could sink to the floor. My chest feels tight when I wake up and it feels like my heart is pushing out and upwards. I've had constant pain in both bicep muscles for about 6 months now, like pinching. I also have blepharospasm. I've blinked since childhood but now have days on end where my eyes are squeezed almost shut. I feel like my upper face muscles aren't working, i.e. takes effort to smile. Slight depression at the temples. Strange stomach sensations. Also, funny thing about this CMT disease because my feet look the same, i.e. very high instep and toes turned up as if I'm wearing invisible high heels.
@JustsosoMeh
@JustsosoMeh 3 ай бұрын
Thank u. That’s helped me a lot in my research for CMT
@GodisLovetoo
@GodisLovetoo 7 жыл бұрын
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.
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
Angela Newman - Thanks Angela for your lovely feedback. Giving patients useful information in a straight forward way, is exactly what drives me to make these videos. As a one man band, often filming these at midnight, all encouragement is greatly appreciated! Wishing you and the CMT community all the very best. Simon
@shashirani3364
@shashirani3364 2 жыл бұрын
@status forever what is PTC3003 I don't understand
@Abix0
@Abix0 4 жыл бұрын
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!!
@DrSimonFreilich
@DrSimonFreilich 4 жыл бұрын
Hi Abby, I don't know where you are based but pretty much everyone everywhere is having their more 'routine' Neurology input delayed due to Covid issues. I'm sure you'll be seen properly when things are more settled. Bw Simon
@Fintan23754
@Fintan23754 4 ай бұрын
Excellent presentation ! Thanks for sharing 👍
@jamiemacc4048
@jamiemacc4048 Жыл бұрын
Thank you for the information
@joem3009
@joem3009 5 жыл бұрын
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.
@jamiemacc4048
@jamiemacc4048 Жыл бұрын
I just looked.... I stole the first of what she said down below.... See you make a difference. Thank you thank you
@nonodaclown9033
@nonodaclown9033 2 жыл бұрын
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
@NorthernMan932
@NorthernMan932 3 жыл бұрын
I've been diagnosed with this and I'm so miserable.
@dwtbb00
@dwtbb00 Жыл бұрын
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.
@MrBobWareham
@MrBobWareham Жыл бұрын
Thank you for your explanation I have type 2 CMT, so my feet are not so deformed, but I am now losing the mussels in my legs and arms, but get no help from my doctor other than being sent to Southampton to be examined
@drmubashir
@drmubashir 4 жыл бұрын
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.
@samgaming5215
@samgaming5215 Жыл бұрын
Very good lecture. A high foot arch is found in CMT but can also be found in Freidrich's ataxia too.
@campingadventures8760
@campingadventures8760 3 жыл бұрын
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.
@jamiemacc4048
@jamiemacc4048 Жыл бұрын
I hope that you are doing well.
@vaishali2296
@vaishali2296 2 жыл бұрын
Hi, thank you for this presentation. Couldn’t play Prof. Riley’s video, it’s says private video ☹️
@DrSimonFreilich
@DrSimonFreilich 2 жыл бұрын
News to me, and I can't access it either. Was a good video and a pity to have been pulled. Will remove the link. Bw Simon
@luisluna7974
@luisluna7974 3 жыл бұрын
Is it true that metformin is contraindicated, because it inhibits the absorption of vitamins that promote nerve function? Besides cancer drugs, what other drugs should be avoided? It only affects when the CMT has started? or can they trigger it? Thanks!!!
@DrSimonFreilich
@DrSimonFreilich 3 жыл бұрын
Hi, I'm not aware of an issue with Metformin. If you go to the CMT Association of America, they have a list of medicines to avoid (link below). Bw Simon www.cmtausa.org/living-with-cmt/managing-cmt/medications/
@omplacementservices8029
@omplacementservices8029 5 жыл бұрын
i also affected by it . i am 16 year old .is any treatment there
@turbofox4177
@turbofox4177 6 жыл бұрын
i have cmt4c im 16 years old, currently dont have big problems. i can walk normally i have minor back and foot deformities. can you tell me what kind of treatment/devices i might have to use?
@DrSimonFreilich
@DrSimonFreilich 6 жыл бұрын
+Turbo fox Hi and thanks for the question. It's difficult to answer as it entirely depends on personal needs and people can be affected differently. Very best wishes Simon
@nimshi9342
@nimshi9342 5 жыл бұрын
Is there any braces for hand
@shayaanp9207
@shayaanp9207 2 жыл бұрын
Awesome
@vinothkumar.d8719
@vinothkumar.d8719 5 жыл бұрын
Thank you Dr. Simon for simple explanation. I would like to know the feasibility to stop passing the pmp22 duplication genes to offspring. Since 3 generations(AFAIK) suffered, I wish not to pass on to next generation. Am aware about the 50% chances that offspring can be affected. Can you please throw some light on this research or labs working on it?
@DrSimonFreilich
@DrSimonFreilich 5 жыл бұрын
That's a great question and you would need to speak to a Genetic Councillor service directly, regarding this. Bw Simon
@catchow8279
@catchow8279 7 жыл бұрын
I developed Neuropathy, Neuromas, and Plantar Fascititis about 5 years ago when I was in my mid 50s. I'm in extreme pain most the time and under the care of a Chronic pain Dr. Recently there was a change in Dr.s and the new one suspects CMT as I have high arches, so claw toe symptoms and muscle loss. Is it really possible that it could be CMT? I've had the injections, under medications and monthly to bi-monthly visits. They did Nerve tests about 4 years ago, but until 3 months ago CMT was never mentioned. Thank you for your time and information! 😻
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
Cat Chow Difficult to comment without full details but doesn't sound likely. In my experiences of seeing referalls relating to apparently high arches, these are often over interpreted. Their Clinical definition is that they have to be so high one can push a (toy) bus under them I.e it looks like a tunnel. Many normal people have partially high arches where usually the inner aspect is high but not the outer aspect (easy to check your own). Truly high arches are the result of muscle malformation in childhood leading to impaired formation of the bone structure. Thus, if you have developed problems in your 50's (even if there are some rare CMTs that present later in life) it would be unimaginable for there to be be such a disconnect between the arch not forming and only decades later for some weakness to develop. Hope this makes sense and wishing you all the very best, Simon
@ssx427
@ssx427 3 жыл бұрын
Is it possible to have two types at once? My nerve test confirmed 1A but my genetic test showed type 2 (with no letter after it?). The gene is the BSC2 gene apparently. It was definitely inherited from my father, and out of 14 paternal siblings/cousins in my generation I’m the only one with it, and have been symptomatic since early adolescence. I’m now 40 and noticing the degenerative effects starting to affect my hands. My feet have both had cavovarus reconstruction surgery and my calves are severely atrophied, although I can still walk (although painful). Thank you.
@DrSimonFreilich
@DrSimonFreilich 3 жыл бұрын
Thanks for the really interesting question. I'm going to presume that instead of BSC2 gene you might have meant to say BSCL2 gene. Its one of the CMT's that is rarer, and has quite a variable expression / presentation for reasons we don't yet understand. This makes it harder to fit into a neat categorisation. Very best! Simon
@ahmedmashud786
@ahmedmashud786 6 жыл бұрын
Hi my 7 year old daughter has CMT and we have been referred for surgery is that a good thing to do or bad and will it cure her can she walk normally after surgery thanks please reply
@DrSimonFreilich
@DrSimonFreilich 6 жыл бұрын
Hi, I think that the best person to have this conversation with, is the surgeon involved who should be able to explain clearly the issue being addressed, the proposed benefits of the surgery, the potential risks and for how long the benefits will likely last. Wishing you and your daughter the very best, Simon.
@MrBobWareham
@MrBobWareham 6 жыл бұрын
Thank you for your video very helpfull as I have CMT but dont get any help from my doctor but they are aware I have it
@finleymartin5354
@finleymartin5354 5 жыл бұрын
Me to
@ihatemypfpyay677
@ihatemypfpyay677 5 жыл бұрын
I have it to:,)
@bimmjim
@bimmjim 5 жыл бұрын
@Bob Wareham .. What country are you in? ... I am in Canada where I have received very little help for my CMT. ..
@MrBobWareham
@MrBobWareham Жыл бұрын
@@bimmjim I am in the UK
@elnamitchell8589
@elnamitchell8589 4 жыл бұрын
Hi Dr. I'm the one with the " bad " gene my mom had it too. My brother and my son has cmt. Brother ended up in a wheelchair. I have extreme muscle pain is it a sign of cmt?
@DrSimonFreilich
@DrSimonFreilich 4 жыл бұрын
Hi Elna, pain can be a feature but isn't diagnostic as there are many causes of pain and for CMT there are other important features. I'd suggest you have it checked out by your local doctor. Bw Simon
@user-dn9vd9xg9p
@user-dn9vd9xg9p 2 жыл бұрын
Is it normal for those with CMT to be referred to a rheumatoid arthritis physician with the patients being treated with RA drugs? What kind of physician should a CMT patient see?
@DrSimonFreilich
@DrSimonFreilich 2 жыл бұрын
Hi J, Neurology is the usual route for care and follow up though there may be additional or specific issues for a rheumatologist. Bw Simon
@jolantamikulska8649
@jolantamikulska8649 6 жыл бұрын
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
@DrSimonFreilich
@DrSimonFreilich 6 жыл бұрын
Thank you for a really good question and I'm not aware of any CMT classification which includes HNPP. Yes, most of CMT1A is caused by the same gene (PMP22) that accounts for HNPP. However, in HNPP there is a deletion of this gene and in CMT1A there tends to be a duplication of it. This difference leads to two completely different clinical expressions such that in CMT1A there is progressive degeneration along the entire course of the nerve, whereas in HNPP it is more limited to compression site damage. This means it has a tendency to present with discrete events such as foot drops etc. but can also heal up in contrast to CMT1A. So one gene with very different outcomes depending on the defect. Bw Simon
@luisluna7974
@luisluna7974 3 жыл бұрын
I know about a man whose symptoms developed until his 40s. He's currently sixty something, and in a wheelchair with severe hands deformities. I would like to know it there's a way for his kids, who are 20 something nowadays, to prevent or to slow the cmt. Thanks a lot.
@DrSimonFreilich
@DrSimonFreilich 3 жыл бұрын
Hi, unfortunately there isn't, but it could be worthwhile for them to get tested to see if they carry the gene. Bw Simon
@catchow8279
@catchow8279 7 жыл бұрын
Thank you!!!! I have been having serious doubts about this Dr. as up until then, I was blessed to be extremely active and my feet always were fine. In fact I have helped many other people who were disabled. The Neuropathy is the worst, the 5 injections helped the Neuromas, and Plantar Fascititis, plus the Physical Therapy, it's just this different Dr. in the Specialists office that I have been going to that has been coming up with something that doesn't seem to fit. Thank you so much, I'll be getting a different opinion! Is there a blood test to be sure? I found your information to be excellent! 😻
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
Cat Chow Thanks, yes there are CMT gene tests which are $$$ not cheap. Bw Simon
@GodisLovetoo
@GodisLovetoo 6 жыл бұрын
Cat Chow I paid $1500 for the testing, and now the Invitae and First Step DX only charged each of my family members $250 to test for what the found in me.
@angelinaballerina2407
@angelinaballerina2407 4 жыл бұрын
The video in the link can't be watched it's private?
@DrSimonFreilich
@DrSimonFreilich 4 жыл бұрын
No idea, should be readily available in the public domain. Bw Simon
@deepaknehra249
@deepaknehra249 6 жыл бұрын
Sir i am suffering from cmt high arched feet , arm muscles arenot growing and i am week, does my muscles grow in my life or not
@DrSimonFreilich
@DrSimonFreilich 6 жыл бұрын
Hi Deepak, thats a difficult question to answer like this and you'd be better off asking your own local doctors / specialists. I'm sorry that I can't help further. Best wishes, Simon
@1Gibson
@1Gibson 5 жыл бұрын
My 7yr old was dx c type 2A age 4yrs old... its been down heal. She has is now being wheelchaired... wish the docs here in Az had a clue...
@Jonathan-bf2cm
@Jonathan-bf2cm 3 жыл бұрын
Hope you are there for her, i wish i was there more for my sister
@fulckanunturned8584
@fulckanunturned8584 5 жыл бұрын
My mom has cmt I don't know what kind but her doctor say it's super rare form she has had leg surgery for it the she takes strong painkillers for it but it's turning her into a skeleton and it's killing me that I can't help her and that she is getting worst and worst she cant really use he hands anymore and it sucks
@hamzahk9924
@hamzahk9924 2 жыл бұрын
Hello Doctor . Thanks for the information. Does Vitamin B12 Help Balance? And what do you think about taking Omega 3, magnesium, vitamin C, melatonin, lecithin, vitamin E, zinc and vitamin D.
@DrSimonFreilich
@DrSimonFreilich 2 жыл бұрын
Hi Hamza, vitamins and mineral supplements can be helpful but only when there deficiencies. Bw Simon
@hamzahk9924
@hamzahk9924 2 жыл бұрын
@@DrSimonFreilich Thank you doctor
@nicolasghesquiere123
@nicolasghesquiere123 2 жыл бұрын
Where can I find studies or statistics on how often children develop symptoms at the same age as the father?
@DrSimonFreilich
@DrSimonFreilich 2 жыл бұрын
Hi Nicolas, a very good question. There are medical search engines such as pubmed which could help, depending on how much info you want. Some articles will be freely available, but most will require ££ per article or institutional logins. The answer to your question is quite complex and very much depends on the exact gene, and then unpredictable individual genetic factors which makes it hard to predict when they manifest and how badly. A fundamental issue is when exactly do we record age of onset? Self reporting is fraught with difficulties, age of diagnosis is too late, age of medical presentation, which is somewhere in between, can be highly variable, particularly as most family doctors are unaware and centres that specialise and actively research into it are few and geographically remote. Just as a taster on age of presentation by gene you can access freely the article below from Japan. jnnp.bmj.com/content/90/2/195 Generally speaking, if onset of a parent is in childhood, then the chances of their child presenting in their 30-40's is small. But if they presented from their 20-30's, it'd be much harder to predict. Bw Simon
@oakland7474
@oakland7474 7 жыл бұрын
I've heard in Beijing they are using stem cell research in accordance to our disease and the results are outstanding have you heard any of the research on this if so can you help put it into layman's terms for me
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
Hi Dave, I haven't heard anything about this as yet. This and gene directed therapy should be the way forward and we'll watch this space with hope. I'll keep my ears pealed and if and when there are any significant clinical breakthroughs, I'l l make an update. Very best wishes, Simon
@rudyzturbota
@rudyzturbota 6 жыл бұрын
Hi dr. , I have cmta1, I've had 3 surgeries on both my feet, and im 34 . Has anyone research about stem - cells?. Like the ones they do in Panama. Any info is appreciated.
@DrSimonFreilich
@DrSimonFreilich 6 жыл бұрын
It's certainly an area of research interest but I'd be cautious about it at the moment. Bw Simon
@rudyzturbota
@rudyzturbota 6 жыл бұрын
Dr Simon Freilich , is there anyone actually looking into this tho? I'd be willing to be a test study.
@Ida-Adriana
@Ida-Adriana 4 жыл бұрын
ourgreensolution Or even Platelet Rich Plasma with collagen gel
@Eyepatch1997
@Eyepatch1997 5 жыл бұрын
My sister has CMT 1 and is 30 years old she has it since she was 12 years old and cant walk since then do you know if there is a treatment that can help her walk again?
@DrSimonFreilich
@DrSimonFreilich 5 жыл бұрын
Hi, unfortunately not, but best wishes to her, Simon
@lol-ce1og
@lol-ce1og 4 жыл бұрын
@@DrSimonFreilich There is; it's called ankle fusion.
@WDBsirLocksight
@WDBsirLocksight Жыл бұрын
How come a orthopedic surgeon thinks 80% I have it but the neuromuscular neurologist doesn't think so. Anyways no genetic match but I have all the signs. The neuro says mechanical sequalae. EMG was normal to him but I wonder if there can be a sub-clinical condition. I will listen to your description and look at the EMG report. Can u program in thresholds to excel and graph...? I also have certain presence of lordosis and kyphosis in the background of congenital stenosis. And pathological weakness, or cube atrophy from absence of use....? As well as pins and needles. In 2012 I had mysterious whole body shakes and recently an isolated right arm tremor. Go figure 🤷‍♂️ I also have a rare genetic anomaly that they haven't studied but told me shouldn't express any medical disorders.
@imenebenali1754
@imenebenali1754 5 жыл бұрын
I'm suffring from Cmt please ther is center un USA ? Can you help me
@DrSimonFreilich
@DrSimonFreilich 5 жыл бұрын
Hi Imene, I'm sorry that I can't help you personally as I'm not based in the USA. You could try www.cmtusa.org for contacts and information. Bw Simon
@HiHoSilvey
@HiHoSilvey 3 күн бұрын
I am 71 and was wrongly diagnosed with CIDP in 2001. I was seen this year by a neuromuscular specialist who concluded that it is CMT. I will probably get the genetic test to confirm when I see him this week. There was a report presented to the 2018 American Academy of Neurology discussing autonomic nerve damage as being widespread in CMT patients. My question concerns the possibility that my arrhythmia in an otherwise normal heart is a symptom of autonomic CMT. I also have post exertion malaise (PEM) which I thought might indicate chronic fatigue syndrome. But I see that could also be related to CMT. I have an appointment with a rheumatologist to discuss PEM but it may not be necessary if it is not related to CFS. Have you seen these autonomic issues in your practice?
@DrSimonFreilich
@DrSimonFreilich 3 күн бұрын
Hi, that's a really interesting question. It's certainly described but prevalence, onset and severity may vary by specific type and genes. I'm not aware of pacemaker clinics being particularly busy with CMT patients (happy to stand corrected) and arrhythmias become more prevalent with age as cardiac tissues fibrose over time, which is probably the most important factor. On the nerve conduction side (my day job) we don't often get asked to look at autonomic dysfunction but given that pupillary dysfunction is noted in around 15-20% of those who have CMT, its definitely a feature. Bw Simon
@jonkftw
@jonkftw Ай бұрын
My father has this and only showed symptoms in his early 40’s. I am now 31 - what are the chances of me having this? Thanks
@DrSimonFreilich
@DrSimonFreilich Ай бұрын
Hi Jon, It's probably best to have yourself screened genetically. Ask your dad to get in contact with his Neurologist to advise further. Bw Simon
@luisluna7974
@luisluna7974 3 жыл бұрын
Will the male children develop symptoms at the same age as the father? How probable is it?
@DrSimonFreilich
@DrSimonFreilich 3 жыл бұрын
All quite variable due to genetic modifiers which are currently the subject of much scientific research. Bw Simon
@nicolasghesquiere123
@nicolasghesquiere123 3 жыл бұрын
I just found this is my boyfriend's dad condition. His dad is a wheelchair user and his hands are in pretty bad condition. My boyfriend has always had spontaneous tremblings, his body suddenly shakes for no reason apparently. Is this a sign he might develop CMT as well? He's 26.
@DrSimonFreilich
@DrSimonFreilich 3 жыл бұрын
Hi, I can't answer other than to say its worth getting the genetic testing done. Bw Simon
@nicolasghesquiere123
@nicolasghesquiere123 3 жыл бұрын
@@DrSimonFreilich thank you! I just wanted to know if those tremblings were some kind of sign or smth be worried about.
@sarahattridge9677
@sarahattridge9677 6 жыл бұрын
I have cmt 2n,,, its rare. it gets worse with age; my father my grandmother my great grand mother had it
@tenniscourt5831
@tenniscourt5831 5 жыл бұрын
Sarah Attridge It runs in my family, five generations including two brothers and a sister. In spite of CMT they are artistic, adventurous,and funny. Hang in there!
@Thatdubdoe
@Thatdubdoe 4 жыл бұрын
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 😫
@elnamitchell8589
@elnamitchell8589 4 жыл бұрын
Hi just want to know what are your symptoms? I have a "bad gene" my son has his nerve ends dying and lots of pain he wear's an in step in his shoes which gets tilled to force his feet to align else he would walk on his " ankles" the way the foot tilt's
@muneerbaig6280
@muneerbaig6280 5 жыл бұрын
Cmt disase is cure for any treatment
@pandorabox669
@pandorabox669 7 жыл бұрын
sir I am suffering in Hereditary sensory motor neuropathy any cure available for this??
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
Hi Touseef, thanks for making your question clearer! There is no current cure available that will take HMSN away. This is because the origin of the problem is in the genes that code for the structures that make up the nerves. This means that the problem is 'hard wired' and won't go away with a pill or injection. Having said that, there are plenty of things that can and should be done to make this condition more manageable. I don't know where you come from, but there might be specialist centers which can help you, as well as local support groups. If you are not aware of any, perhaps try going on Facebook, where patients can contact each other online. It's really important to see a specialist as they may be able to help you access the best services for your needs. Wishing you all the very best, Simon
@pandorabox669
@pandorabox669 7 жыл бұрын
sir thnku for ur reply is this possible through stem cells?because Indian doctor's said that they can cure for this disease.... kindly help me out !
@DrSimonFreilich
@DrSimonFreilich 7 жыл бұрын
I'm sorry to tell you that stem cells can't cure this yet. Perhaps one day, but not at the moment. Bw Simon
@deepaknehra249
@deepaknehra249 6 жыл бұрын
Please reply i will Wait
@smileyfossil9819
@smileyfossil9819 5 жыл бұрын
Ok then
@quinnard9750
@quinnard9750 3 жыл бұрын
bruh
@oakland7474
@oakland7474 7 жыл бұрын
By the way I have cmt1a it sucks it detours my life and my families life
@parasmore1437
@parasmore1437 5 жыл бұрын
Hello sir I'm paras i am 19 year old I am suffering from cmt type 1a Which came from my grandfather. My question is Can the cmt type 1a increase in future. And i am a dental student I hope you understand me Please reply me sir I am waiting for your reply Thank you sir
@jakeh.4046
@jakeh.4046 5 жыл бұрын
Paras More ya man, it gets worse - I’m 25 and the negative symptoms have continued despite my physical therapy and significant exercise, mostly a loss of sensation and increased chronic pain. Hope the information helps man.
@DrSimonFreilich
@DrSimonFreilich 5 жыл бұрын
Hi Paras, yes this is a progressive condition, but the rate of progression is quite variable. Bw Simon
@parasmore1437
@parasmore1437 5 жыл бұрын
Thanks sir
@luisluna7974
@luisluna7974 3 жыл бұрын
Have you developed any symptoms yet? I have a friend who's father has cmt, he is 26 and he has spontaneous tremblings, not sure if that's something to be worried about.
@mikemikemikeX
@mikemikemikeX 4 жыл бұрын
28 now not doing good... full body tremor and complete muscle wasting.
@finnthefuzzymoth1717
@finnthefuzzymoth1717 4 жыл бұрын
Well I was born with Cmt And I didn't even know it till I was 6 😂
@knowpassword
@knowpassword 4 жыл бұрын
Man.. I have this thing, and you lost me.. 🤔
@michellesweightlossjourney6599
@michellesweightlossjourney6599 5 жыл бұрын
What is the cause? Heavy metal overload? Iodine deficiency? Poor diet? Vaccines? I honestly feel doctors don't think to go to Nature for the cure because they only look at the symptoms. Why not detox the cells and strengthen the immune system by removing toxins from the home and beauty routine? I think a plant based diet would also help....because it has helped my friend greatly and she has gotten great results from rebounding as well. All natural approaches without toxic meds.😉👍🏽 I say try whatever you can as long as it's safe.
@DrSimonFreilich
@DrSimonFreilich 5 жыл бұрын
Hi Michelle, I do try and curate comments and wanted to say that I certainly agree with you that it's important to eat and live healthy. I'm sure all my medical colleagues would as well. In terms of causation, CMT is unfortunately a hard wired problem with the nerves from conception due to errors within the actual DNA (the blueprint of how the nerves are formed). As such, the acquired causes are not relevant to this condition. I would also point out that vaccinations are vital to the health of our nations. Unfortunately, they are the victims of their own success as people forget how serious measles, mumps, rubella, polio, diphtheria, tetanus, influenza and the others can be! Complications can happen but are exceptionally rare. Hence vaccination is on balance, a very good thing to have and to promote as part of healthy living. Wishing you all the best, Simon.
@albiedam3312
@albiedam3312 5 жыл бұрын
Medications are not toxic. Because of medical science, humans are living longer and healthier lives. Due to vaccines, we have been able to get rid of deadly diseases, such as spanish flu and polio. Being reliant on a "plant based diet and au natural remedies" is pure idiotic.
@vk1990
@vk1990 5 жыл бұрын
Are u crazy dear lady
@Ida-Adriana
@Ida-Adriana 4 жыл бұрын
Dr Simon Freilich Smallpox vaccine was killing people as much as the disease itself, I just read that on the CDC website. After my MMRV shot I developed full blown infections of vaccine strain Mumps and Varicella, simultaneously which then turned into suspected Meningitis and seizures. Vaccines are not miracles.
@twylah9047
@twylah9047 Ай бұрын
This is passed down through your DNA from your mother or your father, We know this... Why would people who have this horrible thing going on and their bodies have children? What in God's name are adult people thinking when they know they're passing this on to their children to suffer every day of their life.? It's selfish, Nor socistic, and unforgivable. I have something similar, Is my parent knew this, They did not have to have children and pass this c*** on down for them to live miserable lives. That's my opinion...
@chimms3619
@chimms3619 23 күн бұрын
Yes, ive cried all the tears ive could. Pain, uncomfortable, tremors, cut my neck shaving all the time. Cant write, type or sometimes even open a water bottle. Not alot of programs to help. I refuse to procreate, this is no quality of life, especially what the world will not tolerate today. It may start physically, but it will drive you insane. Sorry kinda ranting, but the truth must be told.
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