genetic CTS
I have genetic carpal tunnel syndrome which was diagnosed when I was 18 months old by a paediatrician and a neurophysiologist at St Thomas's Hospital in London. I am now 21. This was monitored every six months by EMG tests. I had bilateral carpal tunnel surgery at Great Ormond Street Hospital when I was six years old as by then the EMG studies showed marked deterioration.
Initially my symptoms improved after surgery however after a few years they gradually returned. My older sister had severe carpal tunnel syndrome and by the time hers was operated on her median nerve had totally atrophied in her dominant hand. She is now 26 with no feeling and little movement in her thumb index finger and middle finger and only one side of her ring finger.
My mother had carpal tunnel syndrome symptoms from the age of 13 and has had bilateral decompressions, but still has pain, numbness, weakness etc in both hands.
I have been having six monthly EMG studies to monitor the median nerve at Great Ormond Street Hospital, the last one was December 2011 when they discharge me as I was no longer a child at 20 years old.
In the past I have been investigated by neurologists dealing with peripheral neurology at Queen Square in London.
Currently I am under Prof Rodney Graham, rheumatologist who specialises in hypermobility syndrome, which I also have, at University College Hospital London. Since becoming an adult I am no longer under the care of anyone with regards to my hands and carpal tunnel syndrome. I am concerned to preserve the function of the median nerve to prevent it atrophying as it has done in my sister.
I have letters from various consultants and copies of past EMG studies is it helpful to bring these to the first appointment?
Yes it would be very helpful to have whatever records you have. I'm sure you are aware that although 'ordinary' CTS is about 50% genetic in origin that there are a few families like yours in which it is clearly inherited as an autosomal dominant trait - though no-one has identified the exact gene. There are about a dozen families in the CTS literature like yours and they all share the characteristic of presenting with symptoms and signs at a relatively early age. I don't think any of the exisiting families have been comprehensively documented with ultrasound imaging so it would be interesting to take a look at your median nerves, even though it is after surgery. JB