A

[REGreen]

After being diagnosed and accepting that three members of our family have or had CMT, my sister has had a bombshell dropped. She has cervical spinal stenosis which could be causing all her symptoms. My father also had a cevical corpectomy and strut grafts, so have we been misdiagnosed or do we have two genetic defect interacting?

[CMTUnitedKindom Partner]

To be honest, I think only a neurologist can answer this one for you properly - but it's quite likely that there are two separate conditions here - obviously, having CMT doesn't also stop you having other things too - we've had members with CMT and MS; CMT and Parkinsons.... the list goes on and on.

How were you diagnosed with CMT? By genetic testing, or by nerve conduction studies, symptoms or by family history, or all three....? If there is a definite genetic diagnosis of CMT, then it's likely that that is a correct diagnosis. If it's only by symptoms or family history, then perhaps further diagnosis procedures - like nerve conduction and/or genetic testing - are needed to sort out what's what.

Karen

[REGreen in reply to CMTUnitedKindom]

Hi Karen,

It was nerve conduction tests and the shape of our feet plus the effects on our ankle. Genetic tests for 4 types of type 2 were negative and then the tests were stopped. Seeing my neurologist in a few days so I'll have something to ask!

[williamalfred]

h karen just read your blog, i had nerve conduction tests in 1991 and 1998, had since diagnosed with cmt type 2. went to Newcastle genetics hospital in february this year with my son who`s 26 he`s been diagnosed with some form of cmt (we think) they`re not sure what yet, we have to wait until they decide when they will sent us the results, went to a neurologist she said my son didn`t have ant form of cmt so he`s not a happy chappy. has anyone else had this happen to them. By the way i`m a woman just using my dad`s name for my password.