I have had CMT for most of my adult life but was only diagnosed when I was in my late 40's. I am now 64.
Doctors in South Africa don't seem to know much about this disease.
All my joints seem to have been affected and I was wondering if there is anyone who has a similar problem. I had a total hip replacement three years ago which was a failed operation. I now walk with a severe limp and have to use a crutch. I am grateful that I can still walk but have deteriorated since the hip surgery.
My jaw bone is loose and cracks when I chew.
My thumb joints have completely slipped out of their sockets.
I suffer with severe anxiety and depression.
Ever since I can remember, my left leg starts paining as soon as I lie down and rest. The pain is hard to describe, but I have to stretch my leg to get some form of relief. This goes on for about an hour or two before I fall asleep.Recently my arms have started to ache as well. It almost feels as if I have strained the muscles in my upper arms. Can anyone tell me if this is cmt related.
I also suffer with neck pain and muscular spasms.
I would really appreciate feedback from other CMT sufferers as I never know if my symptoms are from CMT.
I've been told by doctors here in South Africa that all the symptoms I've been experiencing over the years (apart from my joints) are anxiety related. To name a few - burning sensation, prickling or pins and needles sensation, constant fatigue and lack of concentration.
Thanks,
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Marlenesmith
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Hi Marlene. I'm the same age as you, and had CMT (type 1a) diagnosed at about the same age as you. That seems to be where the similarities stop, however, as I don't have any of the symptoms you describe. The only exception could be that both my knees have in the past have had a tendency to become disjointed if I turned sharply on them. I've been careful to avoid doing that, and have worked on strengthening my quad muscles, which thankfully seems to have worked. CMT can have various diverse symptoms, but those you describe sound to me like there's something else going on. Unfortunately, doctors throughout the world seem to have little to offer for these life-changing, but not necessarily life-span reducing (hence not prioritised), diseases.
Good luck with getting an answer and hopefully a resolution. Malcolm (UK)
Hi Marlene, my husband has many problems not all related to CMT but it is difficult to know which are and which are not. He has severe muscle wastage in his lower legs, has frequent falls as his balance is not good, his legs buckle, legs are purple more so when he stands, he has burning and crawling sensations in his head and face which drive him mad, always worse in the evening/night, I am now noticing changes in his hands, his grip is weakening he keeps dropping things, although now 76 he used to walk.3to 5 Miles a day, to keep his diabetes in check, he is insulin dependent, now after a few yards he has severe fatigue, his legs do not support him and every afternoon he retires to the bedroom where he lies down for three hours or more, some days he just sits around the house devoid of energy, he is also constantly clearing his throat.
He was misdiagnosed with Motor Neurone now changed to CMT but for years everything was put down to diabetes even though his control was excellent . Our GP had no knowledge of CMT, the physio dept had no knowledge of CMT my husband is waiting his DNA test results, 7/8 months, to be confirmed , we were told exercise can exacerbate the progress of muscle wasting, whilst we wait results he gets steadily worse, he takes his frustration and anger out on me, understandably,, I now walk away until he calms down but life is difficult., I wish you well Marlene and hope you get answers soon. Pam
Hi Marlene, I am so sorry to hear about your health issues. I am an American, but was diagnosed with CMT when I was 52 years old and living in Pretoria. Dr. Fourie at Die Wilgers hospital in Pretoria diagnosed my CMT with a lumbar puncture test. However, after diagnosis, no information was really offered on what I could do to live with it. I later had a follow up evaluation with a neurologist in the USA who confirmed the diagnosis. Probably the best advice was from my internist who sent me for a physical therapy evaluation. I did alot of reading on the internet and decided to stay as active as possible. That helped for the last 7 years. But last January I started having groin pain. Finally got an x-ray last week and saw an orthopedic surgeon. Turns out I have arthritis. So now I'm trying to weigh my options and continue to stay as active as possible.
I'm not a doctor, but in my opinion I think hip problems are caused by CMT because CMT causes us to walk differently, putting different pressure on the hips. I don't know about other joints. It is documented that "burning sensation, prickling or pins and needles sensation in your lower extremeties" and many also believe fatigue, are also caused by CMT. I wish I could point you to a resource in South Africa. During the years I lived there (I left in 2014- four years after diagnosis), my CMT symptoms were pretty mild. (Barb- now living in Indonesia)
Hi it seems we have a lot of similarities i too suffer with painfull joints m y left shouder is the worst,which regularly have injections. My hips are painfull so are my knees and muscles everywhere ache.just fed up with it as i feel 80 years not 51.! Hope you're well and we have to not get us down😅
Thanks for your feedback. In my opinion, the only way to find out more about this disease is to share our symptoms and in that way, find out how to help ourselves. Although it's been a battle, I have fought this disease all my life. It is definitely genetic as my Late father had it. He was never diagnosed, but he had all the symptoms. My two grandsons and my son have been diagnosed.
The neurologist who diagnosed me told me that there is no point in having follow up appointments as this disease is incurable and progressive.
It is so difficult to find a dedicated doctor or clinic in South Africa to assist with symptoms, even if there is no cure.
hello Marlene , you need to work on your anxiety and depression, easy said than done i know. takes time and a wanting to get better. your mind is not working properly and needs care. you will get better if you do something about it . stop feeling sorry but be strong. remember it not just you but millions of people have health problems . we have one life and we have to make it worth it . positive thinking and supportive friends and family is a big help. but at the end it is you that can beat it and get better. you have the power , there is no time for self-pity but be strong . you can do it Marlene!!!! i am a CMT sufferer too but i am going to do my best to live my life. your friend Oliver
Thank you Oliver, my depression and anxiety started many years ago and I have been to he'll and back. I have had treatment and consider myself a strong person. Because of many circumstances in my life it has not been easy, but I continue to fight and have faith that the sun will shine again.
Muscular spasms and aching, burning sensation, prickling or pins and needles sensation, constant fatigue and lack of concentration have been described by many CMT sufferers. Those symptoms are not caused by depression or anxiety but by our faulty nervous systems, muscle wastage, muscle imbalances and overexertion. Of course anxiety and depression will make our experience of the symptoms worse.
Hi Marlene. My symptoms are very similar to yours. My neurologist can't make his mind up if I have CMT - he believes that it might just be Hereditary Liability to Pressure Palsy. He did say that the evidence could imply either or maybe even both! My feet show the classic symptoms; deformed and claw-like. My legs always feel as though someone is tightening steel bands around them and always feel hot - but not to the touch. I am getting the same extreme aches now in my shoulders, arms and fingers; all my joints are extremely painful and, as with you, the leg pain is excruciating when I first go to bed. Also my feet are the same when I first get up. I have also been diagnosed with arthritis so guess this explains some of the symptoms. I have most recently developed severe pain from my shoulder running up into my neck - no explanation for this and it is now constant. I was told that, apart from pain relief there is nothing that can be done.
I can so relate to what you are experiencing. Sometimes the meds we are given cause horrendous side effects. I'm not that clued up but I do know that there are certain meds cmt patients cannot take. I have been on Cymbalta for ten years and am worried about the long term use thereof. I am currently trying to wean off but it's been extremely difficult experiencing the withdrawal symptoms. I'm going into my third month of weaning off and have started to feel a bit better. I am taking vitamin D, vitamin B1 and a vitamin called Slow Karma. A doctor in my hometown, who believes in natural healing, recommended that I use these vitamins.
Be strong and by sharing, maybe we can help each other and all the other cmt patients out there.
Please note that I'm not telling you to stop taking prescribed meds, just sharing my own experience.
Hi Marlene, My wife is South African (born in PE, med school at UCT) and so I've been many times. I have CMT 2N with numbness in my toes beginning in my mid 40's, but not diagnosed until age 64 by exam and nerve conduction velocity studies at a CMT clinic (University of Iowa, Dr. Michael Shy) and, subsequently, genetic testing (hence the specific 2N subtype diagnosis). Although my disease is relatively mild and late onset, I experience some of the same symptoms. While I have adjusted to the poor balance, gait difficulty and clumsiness, fatigue (especially prominent upon waking and throughout the morning), and muscle aches in legs and, to a less extent, in my hands are more difficult to deal with. As well, I have significant pain in my hip and lower back which I believe is from the altered gait (the medial portion of my left gastrocnemius is severely wasted). Lastly, are poor concentration, episodic spells of cold feet and general temperature regulation problems. I don't think that depression and anxiety are necessarily part and parcel of CMT, but every person has a different genetic vulnerability to mood control. Certainly CMT with its loss of function, social isolation, pain stress and so forth, is a significant psychosocial stressor that could precipitate mood changes in a person prone to that. Ultimately, though, your question is what can be done to improve this? I don't think that it is hopeless at all. First, physically it is a matter of pacing yourself in terms of activity level - no exercise will make things worse and so will too much; the problem is that "too much" isn't all that much. As little as 5 minutes of walking 3x/day might be helpful and twice that make everything worse. Stretching to prevent contractures and muscle tightening is often essential and can reduce generalized pain. Properly fit orthoses (foot-ankle-knee orthosis) can make a huge difference - a improved gait will take pressure off knees, hips, back and neck. Good sleep, hydration and maintaining normal weight are important. While there are medications that can help with pain, medication is always a matter of a risk/benefit assessment. Meds are neither bad nor good; they just are tools which are more or less helpful depending on the individual and the symptoms. There are nutritional supplements that MIGHT help with energy and concentration, but that is a long, separate conversation. Regarding anxiety and depression, CBD oil, while still controversial and new as a treatment, may benefit in terms of pain and anxiety. If you can find a reputable psychiatrist (I can recommend Jeremy Royds in Joberg), an assessment of your depression and anxiety may be worthwhile. Hope this helps, but not sure that you're still following this thread. You can contact me at <levinedr@mac.com> if you'd like.
Marlene, i lost my balance stepping from pavement to sidewalk back in October. I was wearing my AFOs & carrying a cane but went backwards landing on back of head & fanny. Went to hospital & had CT scan from head to hips. I didn't have a concussion or broken bones. But the scan did show severe arthritis in neck. I knew I had pain in my neck but didn't of it as a joint like my knees & shoulders. I told my rheumatologist about it. He said sure your neck is a joint & some of my shoulder pain could be radiating from my neck. Just something you might want to check out. A test for rheumatoid arthritis is a simple blood test to confirm. Good luck.
Thanks so much for the info. I constantly have pain on the left side of my neck, almost as if it is muscular. The pain radiates to the left side of my head and is quite scary. I'm constantly taking pain killers or go to a gp for a Voltaren injection. As mentioned, in my country there is no support structure for this disease so I'm greatful to be part of this group. Thanks again
I am 75 years old and first complained about progressive disability and constrictive pain in my left leg when I was 50. The Neurologist believed I was suffering from Hereditary Liability to Pressure Palsy. The problems and symptoms just got worse - very similar to those you have experienced. The most recent consultation about three years ago was similarly unhelpful with a 'suggestion' that it might be CMT type 1 or maybe type 2. The Neurologist was loathe to carry out further tests as he stated that whichever it was - and maybe neither; there was nothing that could be done about it. I have just demanded a further referral as my disabilities are worsening. I believe that ongoing arthritis (especially in my left hip) is masking the rapidly worsening neural condition where both my legs now feel neurally cold (not to the touch) and very tight - just as if someone is tightening steel bands around them. Now also pains and spasms in neck, toes, fingers, shoulders and aching limbs throughout the day. Extreme pain after lying down at night for some hours.
So sorry. That puts you in a sad situation. Maybe you could look at your pharmacy for an over the counter anti-inflammatory med. I feel sooo sorry for you. Have you tried a heating pad? I'm no medical person just a patient, just concerned for you.
Dear Marlenesmith...i so feel for your situation. And from experience I can tell you that joint problems are part of CMT. I have been told that as the nerves die, the muscles get mixed, incorrect signals, so as the muscles are no longer able to act continuously, eventually the joints become pulled apart. Ouch! Rather OUCH!! My CMT began in my 30s...now at 71 am wheelchair bound, difficult balance and transition problems at sinks, potties and cars. One leg the hip is pulled one direction, the knee the other, and the ankle just hangs like a barbie doll foot. I have chronic pain, both shoulders weak even tho i exercise, do tiny weight moves etc...all joints have some kind of problem. Anxieties abound, daily and for future...what if something happens to my hubby etc etc...
I have learned that stress causes CMT symptoms to go into overdrive. And cold weather as well. I am so happy spring is almost here! I have cramps in all muscles, where you think none even are..my neck, ankles everywhere. I take supplements..magnesium etc to help with that. Also staying hydrated helps. It can be all night long tho.. Warm water therapy pool helps, heated pads. I use ibuprofen and aleve, plus topical pain creams, rub-ons etc for joints..cannot take heavier drugs..mess me up. Surgeries offered but recovery time would be looooonger than usual and no guarantee of helping at all. Greatest fear then being put in care someplace. I can still cook, clean up, build a fire in fireplace, go out to garden etc all in my wheelchair.i want to preserve this life as long as possible, even though i feel my joints just seem to hang on threads. My dad had it..my daughter has it sadly. I would wish it on no one.
But you must keep on trying and hoping. Retain all you can. Rage against the disease and deal daily with what it does. I am a woman of faith and must count on that spiritual sense to see me through. I feel badly you have no Dr. support etc. please feel free to ask me anything or visit if it might help you. I am not a doctor but can share from my own life. We must not give up...! This is sent with hope and caring for you. A bouquet🌺🌻🌷😊
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