Hi everyone, I'm new to the site, so here is a short introduction as to why I've joined the community.
My paternal grandmother was diagnosed with peripheral neuropathy (that was all we knew about it at the time). She started to get wobbly with her walking in her 70's and spent the last 8 years or so of her life in a wheelchair (she lived to 89). Subsequently, my father and my aunt (brother and sister) have both been diagnosed with CMT2 autosomal dominant. They both started to notice symptoms in their 70's. They are now in their 80's; my father is wheelchair bound and my aunt is dependent upon a walking frame. I understand that my brother, sister and myself have a 50% chance of inheriting CMT2, and of being carriers. So far neither my siblings nor I have any symptoms that we are aware of (we are 59, 57 and 53).
My questions are relating to genetic testing. How easy/difficult is this to have done in the UK? Can we be referred through our GP? Can it be done on the NHS or is it something that is paid for privately? Is there a specialist clinic/hospital?
Sorry for all the questions, but my father lives in the States, so it is done differently there as they obviously don't have the NHS.
I look forward to any feedback you have.
Many thanks, Mary
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Marylizb
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Hi Mary, genetic testing is as easy as a simple blood test. The results can take a while to come back but I doubt you are in a hurry. It's unlikely you'll get it done on the NHS however, unless you are showing symptoms. That said, it's worth talking it over with your GP, you might be lucky and get a referral. There are nerve conduction tests that can be done, in the first instance, but they are unlikely to show much if you aren't exhibiting symptoms. The first symptom I noticed, in my mid 50s, was weakness in my grip and inability to rise up on my toes. Best of luck, Malcolm.
Thanks so much for your speedy reply! I've just written a letter to my GP to ask him - so we'll see!!! The only thing I've noticed, that may be completely unrelated, is that over the last 18 months I've become quite prone to getting cramp in my toes and instep if I point my feet, especially in my right foot (easy answer - don't point my toes!!) Hope you aren't suffering too much. All the best, Mary
The only thing I can add to Malcolm's helpful comments is that a genetic test is very expensive (£thousands?) . So he is right: the NHS might well be unwilling to test you if you have no clear symptoms of CMT. I think the reason it takes so long is that the blood samples are sent off to a specialist lab where they probably wait until they have a batch (from potential CMT patients?) to examine for mutations. Or maybe just a backlog. Mine -bog standard 1A- took about 9 months. At least with your family history they would presumably have an idea of which gene to concentrate on.
I do hope you and your siblings continue to be symptom-free and turn out not to have it.
The blood test is the definitive way of finding out if you have CMT and which kind. I would think you would be able to have it done quite easily on the NHS - the reason being, in my own family, some members have had the blood test done to see whether or not they have it without having any symptoms at all. My Dad started getting symptoms in his late 70s and, when they found he had CMT1A, my GP referred me straight away to Addenbrookes because I had symptoms - always had problems with my feet, no reflexes, etc. - and it was confirmed that I had CMT1A. Since then, and because I was positive, two of my children have been tested (neither had any symptoms other than my daughter having back problems - no problems with their feet, etc) - daughter has it, son does not have it. Both my sisters have now been tested - again, neither had any indication that they have it, other than one sister had three children, one of whom had been diagnosed with dyspraxia as a toddler - this sister has it, the other one does not. The one who doesn't was checked because she has children and grandchildren. Sorry for the long post - I think it does depend on what your GP is like, but none of my family have had any problem being genetically tested whilst having no symptoms.
Oh, forgot to add - yes, it can take a while to get the result - took three months from when the blood test was taken for me, but I think all my relatives who had it done subsequently, got their results quicker than that.
Thanks for your replies DawnD. We think Dad's is CMT2I - but as he lives in the States and has to rely on insurance paying for his tests, he has fairly limited information. My brother and I hope to find out as much as we can.
Sorry to hear of your family history. We also have a type 2 autosomal dominant mutation in our family. My father had it and now my sister and I both have it. My niece and nephew have been offered tests although they show no symptoms yet. Ours is fairly late onset, but not as late as in your family. We all began to struggle in our fifties. You should be able to get your GP to refer you for genetic testing which is just a matter of taking blood, but you should be warned that you may not get a clear cut result as not all mutations are known. The one causing our CMT has not yet been identified.
Good luck with getting tested and getting a good result,
i have cmt and requested the Genetic testing and was pretty much told that i had no hope of being offered it, unless i wanted to get my children tested..my neurologist seemed to think this would push the tipping point in my favour
My daughter had hers done October 2016 hot the results being of march took 6 months for hers I had to go to the gp from their he sent her to a pedatrain who got in touch with her neurology boss at hospital who sent her for a EMG test which confirmed the cmt then they did the blood test for the pmp 22 also tested chromosome 17p which showed she has cmt1A and potocki lupski syndrome /ptls so then they asked me to have the blood test also all done on nhs I had passed the cmt onto my 9 year old daughter gutted about it but that's life we take each day has it comes I'm waiting to hear about my blood test now can take months to find out hope this helps x
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CMT2A PATIENT WITH PHRENIC NERVE PALSY & VOCAL CORD PALSY 