Living with Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.
The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).
Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.
A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.
CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain.
The gene mutations in CMT disease are usually inherited. Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease. Other forms of CMT are inherited in an autosomal recessive fashion, which means that both copies of the abnormal gene must be present to cause the disease. Still other forms of CMT are inherited in an X-linked fashion, which means that the abnormal gene is located on the X chromosome. The X and Y chromosomes determine an individual's sex. Individuals with two X chromosomes are female and individuals with one X and one Y chromosome are male.
In rare cases the gene mutation causing CMT disease is a new mutation which occurs spontaneously in the individual's genetic material and has not been passed down through the family.

[@Thepaintedturtlefacepainting]

I have CMT and also Ehlers Danlos. Thanks for sharing your story!

[@davidwhitten4051]

I’ve had it for 57 years, you are born with it you don’t just develop it.

[@kevindonohue2912]

The symptoms in childhood can be very minor or even imperceptible. My CMT is a bit of a mystery as I am the only one in my family who has it. When I was a kid, I simply did not excel at sports like other kids did and I was told I just wasn't trying hard enough - I could not run fast, climb a rope, catch or throw balls, etc. When I was 30 an orthopedic surgeon said my feet had lost their structural integrity and my ligaments had 'dissolved.' I finally saw a neurologist at 40 and was diagnosed with CMT, with severe axonal neuropathy. A nerve biopsy showed 'end stage' neuropathy, but the nerve damage was too severe to provide any diagnostic information. I went on full disability at 50, due mostly to pain and fatigue. I've fractured almost every bone in my feet from neuroarthropathy, and I've had several foot surgeries. I've lost a lot of function in my hands, too. But yeah, it has been a slow progression over my life and it has robbed me of so much. I just wish I could go back and hug that little boy being bullied in gym class and tell him it's not his fault - but I'd be lying if I told him things would work out fine.

[@mhassanrana4298]

I have been diagnosed with CMT since my early childhood, and now i am 24, facing difficulty while taking stairs, foot drop, and weakness in the hands, but still i manage to live with it. I am an ACCA finalist, and now just three papers are remaining to become a fully qualified accountant. Furthermore, i am also a bike enthusiast who successfully managed to drive a 150cc bike and, for the past two years, also had gone on the mountains side bike tour, approximately 1000 km long distance covered. Never lose hope. Believe in yourself.

[@bread_is_life2476]

I have cmt, probably since birth but wasn't showing signs till two. Wasn't diagnosed till age 12 after years of being told nothing was wrong. I'm 20 now and still living life

[@floatingcrispbag7842]

Same fam same age and everything that's nuts

[@jimmyhand1259]

I had symptoms by age 1 and have had progression since then. I am 65. I inherited it from my mother but more severely. Treasure the memories of the years you could walk well and ski ❤

[@limegreenlotus]

I have CMT!! I love hearing other people’s journey!!

[@SNAKSTARZ]

how was it growing up ? as a teen or a child

[@run4cmt]

Allison it has been amazing what you have done. I am so proud to have Team CMT partnered with the HNF!

[@prestonpernell5266]

Cmt is not a joke

[@Lina-yr7fc]

yup

[@blossmayne]

I just turned 30, got diagnosed at 28....but I knew that something was up around 17. My dad had been diagnosed for two years then. I can think of signs related to balance that were aparent prior to that age but the fatique and whatnot took over at that point. I am a skateboarder and would skate 7-13 stairs, and all sorts of other street spots and parks all the time. I still do, but I have to manage it with my strength, work, and its very hard to balance a normal life at all anymore. Its a relief to know being a opaite/ poly drug adict had nothing to do with these problems..... it was mind blowing to figure out cmt was actually why I used Fentanyl and herion for the pain and meth for the fatigue.

[@blossmayne]

much love and solidarity to all those with our disease or anyone suffering out there

[@miriancris9556]

I m from Brazil and i have Charcot Marrie T.

[@zenzen1916]

Went from cane at 50, walker 55, 66 in wheelchair, just diagnosed cmt2b1. Arms very weak also. Emg and genetic testing. I used to walk for miles.

[@sammy2502]

So I have had cmt since birth, I’m now 14. I am working on making casts for the day that are easy to walk in. I hope I can do this and help people

[@SNAKSTARZ]

did you have speach delay

[@user-ri5gx7yv4o]

I have had no support from any one except my other family members who also have CMT1X my father was miss diagnosed at age 9 and only got diagnosed in his 60's when the rest of us girls were diagnosed in our teens and younger with no symptoms . My younger daughter and her son have been diagnosed , he is 25 and a twin . He has shown his symptoms since age 9 . I became injured in 2021 and I'll after the second COVID shot an now unable to move much on my feet. Can anyone give advice as I am not getting help from doctors in this and surrounding small towns .

[@HiHoSilvey]

Does anyone have symptoms of autonomic neuropathy with CMT? I have a normal heart with arrhythmia. I've just read a research paper about autonomic neuropathy in CMT and that it can be a cause of irregular heartbeats. I also have PEM, Post Exertion Malaise which is a sign of chronic fatigue syndrome. I thought that's what I had on the side but now I've just read that PEM can also be related to CMT. This is by far my worst symptom. I'm only mildly afflicted compared to others I have read about. I have high arched feet and hammer toes. My arms are not particularly weak and I don't have problems with my hands. My legs are weak, but I can walk well. I just basically don't feel very good. I'm 71 and was misdiagnosed with CIDP back in 2001. I have only just been correctly diagnosed with CMT.

[@sammy2502]

I was diagnosed with cmt when I was 5 ish. Mine is a mutation.

[@Khedas]

same i have bag 3

[@GodisLovetoo]

Wow, her story is my story......

[@jadeisla5421]

I'm trying to learn more about what this is, would you mind explaining?

[@GodisLovetoo]

Jade Isla I just started posting bits and pieces of my experience. I was diagnosed in 2016, with this rare neuropathy that I’m told I had acquired genetically since birth. My son, daughter, and grand babies, brother and niece have also been recently diagnosed last year. Now I know why my great grandmother had one leg, and her daughter, my grandmother had both of hers amputated. I have CMT1A, and I’m still learning what it means. Around 2013 my legs below the knee started feeling stiff when walking, especially upstairs. I noticed my arches getting higher and I’m off balanced all the time. Eventually my ankles became too weak to lift properly and my big toes are paralyzed causing me to trip over them all the time and fall. I went through a series of tests and specialist and no doctor could tell me what is was, but they could tell me what it wasn’t. I came across a video similar to this of a girl afraid to walk in grass and having a hard time walking up inclines just like me. I took it to my next appointment and asked if I had this. My doctor told me no, because I would have known from birth and that other family members would have been affected. He scheduled me for a spinal tap because he suspected CIDP and wanted to start me on steroids. I asked for a second and later third opinion, and I asked the third opinion doctor, why wouldn’t they just test me for what I believe it is, and I was told my insurance wouldn’t pay for it as an adult. I inquired about the fee, and I paid to be tested. It took about two months for the results to come back and I had it....... VCU has agreed to take my family and treat as a whole. I’m told this condition was dormant in my system until I started taking an antibiotic in 2012 to treat a different problem that was highly toxic to the CMT and brought the symptoms out.... I help that helps some.

[@jadeisla5421]

@@GodisLovetoo I am so sorry you have to deal with this, you seem like a very strong person💛, is there a cure for it?

[@jadeisla5421]

@@GodisLovetoo also, I subscribed to u! :)

[@GodisLovetoo]

Jade Isla Nope! No cure, and it progresses with age. I need to do a new video, because the AFOs are less effective, as well has the cane. I have lost feeling on the bottom of my feet, and it’s hard to tell where to step. People say I walk like I’m marching fast to stop from falling or I walk like I’m drunk if I take slow steps, lol... but that’s ok as long as I’m walking and still mobile. Thanks for asking! Sometimes it’s like therapy to talk about it and to share with others. Bless you!

[@superman3836]

I have cmt a am a gamer hearing this makes me worried one day i will no longer be able to play video games

[@God_is_my_savior-316]

What is in the prescription afo elbows?

[@mommitude8926]

AFOs stand for ankle foot orthotic or leg braces. There is currently no prescription medication to treat Charcot Marie Tooth.

[@shellycolson9365]

What perscription did she say

[@God_is_my_savior-316]

What is afo??

[@mommitude8926]

AFO stands for Ankle Foot Orthotic also known as a leg brace. 😊 many people with CMT benefit from leg braces. I was diagnosed at the age of eight years old and I’ve worn AFOs (leg braces) for over 20 years now.

[@mommitude8926]

A prescription for AFOs or ankle foot orthotic (leg braces). You can get one from a primary care doctor, podiatrist (foot specialist) or physical therapist

[@cathleencavanaugh8351]

As near às I can understand,it is a combo of different symptoms that a huge number of people have it but the mode of transmission is not fully understood . but I hope the research continues . I realize my life has so many explanations now for my weirdness .I believe I have lived with this my whole life. & pray offspring never know or wonder why they turned out to have this when all they did was get born . 5ue things could be much worse but the scary part is

[@cathleencavanaugh8351]

True things could get worse but it seems it does

[@cathleencavanaugh8351]

Things. do get worse

[@simpsonharrymtb]

I have cmt

[@ShivanshDev]

me too

[@MrBill99]

@@ShivanshDev Me too

[@6886alexandra]

hey what prescription did you say you got? (I can't tell it's the very last sentence)

[@devnull3278]

She says she got a prescription for AFOs.

[@mommitude8926]

prescription for AFOs - ankle foot orthotic also referred to as leg braces

[@martinecaire7496]

tracduction merci beaucoup

[@dakotaheitman6712]

Help me out

[@vivianthomas7300]

You should reach out to Salami-healing-herbs.on Instagram or contact him on Via WhatsApp for a quick treatment

[@MrBill99]

@@vivianthomas7300 Forget about herbs and see a surgeon. That's what I did.

[@thewolfnacht222]

I have cmt sinse the day i was born