Father diagnosed after 20 years

20 years ago my father presented with peripheral neuropathy in his hands (in his early 40's). He would wake up with numb hands that felt like balloons and have pins and needles and loss of sensation. He was diagnosed at the time with peripheral neuropathy, but with no cause of this investigated! His younger brother and sister also have the same symptoms. He was referred to a specialist neurologist by his regular neurologist who thought he had an inflammatory neuropathy, however specialist has diagnosed CMT1. At this stage he now has muscle wasting in both hands and feet as well as poor sensation in his fingers, and "champagne bottle" legs.

On to me... I'm 36 and have had strange nerve symptoms for about 5 years. 4 years ago I had cubital tunnel surgery on my right elbow, and last month I had the same surgery on my left. Each time the surgeons commented on how tight the nerves were in my arms. 4 years post surgery on my right and I still present with very tight nerves in my right arm. I also present with thumb spasms on my right hand, as well as occasional finger spasms, where my thumbs or fingers lock completely for several minutes. I have also lost about 40% of my grip in my right hand with obvious muscle wasting in my right palm. I have also over the last 3 months started to experience waking up with total numbness in both hands - the first symptom my father presented with, although I didn't know this until I mentioned it to him today!

Given my father's diagnosis and my presenting symptoms, my physiotherapist has now requested that I am referred to neurology to look at CMT as a cause, not least because she is at a total loss as to what else to do with me at this point!

So I guess questions: is it possible my ulnar nerve issues and tight nerve issues are related to CMT? Also I have a 9 year old daughter whole is has very hypermobile joints - is this too possibly related? I have always been very clumsy, as is my daughter, and as is my father!

Sorry this is all new for me! My GP has been most unhelpful in the past, however with the letter from the Physio as well as a copy of my father's diagnosis letter, I'm hoping I might finally get somewhere - I don't want to wait 20 years for a diagnosis like my dad, though I'm aware of course that there is no cure, but after presenting with these symptoms for some time I feel it would be relief to have some answers! Similarly if my daughter is affected, I want her to know sooner rather than later so that she can get whatever help she needs in the future without also having to risk waiting 20 years for a diagnosis!

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  • Dear CMonkey,

    Hi yes it sounds like it and the time taken to get a diagnosis is unfortunately not at all uncommon. My father was never diagnosed with CMT and regularly treated for many things he didn't have He had four knee replacements because when your ankles are weak you lock them and this puts strain on the knees. When he presented with pain in the knees nobody looked any further down. I first went to the doctor about numb feet in 1973 and got a diagnosis in 2008, only by bypassing GPs. Clumsiness, hyper mobile joints and your hand problems all sound like CMT. Did your father have a nerve conduction test and a genetic test before his diagnosis? It usually affects the feet before the arms and hands so presenting with upper limb problems may have thrown the doctor off the scent.

    A nerve conduction test will show whether the nerve sheaths or the nerve fibres are affected and therefore whether type 1 or 2 is involved. Nerves have a sheath of myalin for insulation and in Type 1 it breaks down allowing the nerve impulses to leak away so that the speed is less. In type 2 the nerve fibres themselves die so that the strength of transmission is lower. A genetic test can ascertain which mutation is affecting your family. There are many mutations which can produce CMT symptoms and even with the same mutation affected individuals may have different types and strength of symptoms. If your father has type 1A, which is the most frequent mutation, or another well recognised mutation a genetic test should be able to show you which family members have inherited the mutation, even if they are currently symptomless. Knowing in good time allows people to strengthen their bodies, keep well stretched and be alert for the need for remedial aids as soon as they are needed.

    Good luck,

    REGreen

  • it sounds like it...my sister and i are both sufferers, and i know she has issues with her Ulnar nerve...she has even been shown simple stretches to do before going to bed which she swears has got rid of most of the feeling of pins and needles when she wakes

  • Hi CMonkey~

    First off, I am so sorry, you & your family have been affected by CMT. FYI, people who have CMT, have a 50/50 chance of passing it on to your offspring. I was shocked when I read that. Unfortunately, we were not aware of this statistic till after the fact. Our 5 year old daughter, recently had a genetics test. She too has CMT1A. She has been a toe walker since she learned how to walk. Since my nephew who is 34 yrs old, still walks on his toes, it was a red flag for me. For most kids, this is a phase. They will grow out of. For my little one, this is part of CMT. Her treatment so far has been 6 weeks of Casting on both of her legs (foot to just under knee). After that. she transitioned to custom made braces, which she wears ever evening. She also is doing PT weekly. She has been such a trouper.

    In regards to your question, yes, hypermobility is part of CMT. Here is an great article which lays out the specifics on CMT.

    cmt.org.au/uploads/pdf/Char...

    CMT is pretty complex & affects people differently. Hope the article helps answer some of your questions.

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