This forum has been closed for comments. You can still search archived messages.
Visit the Non-Dystrophic Myotonias Facebook Group
one of my daughters and I have recently been confirmed as having Myotonia Congenita and my daughter also has hyperkalaemic periodic paralysis. since Feb 2013 my daughter has had urinary retention and started having problems with her bowels.. which a few weeks ago have virtually stopped working ( the doctor recently said that sometime in the future she will probably have an operation to remove her bowels - are these known symptoms of Myotonia Congenita or Hyperkalaemic periodic paralysis?? When my daughter was 9years old she also had problems with Chronic Fatigue Syndrome and Arthritis for a number of years and still now she can get excessively tired at times... but she has learnt to manage it ....
Over the past two years one of my sons has had problems with imbalance ((from the minute he stands up he feels like he's falling over, touches walls, furniture (anything) as he walks or he would fall - when standing still he's swaying all the time and can't stand still long or would fall!! ))which results in him having lack of concentration... when he concentrates on e.g. reading, for a few minutes he gets headaches which get worse and cause him to feel ill and sick. his imbalance is currently being helped with taking Cinarazine. for the first year the problems would last between 1 and 3 weeks every couple of months but he has had them continually since October 2013. He had the genetic blood test on Tuesday, to see if he too has MC, and so have to wait 2 months for the results....
Now, I would like to ask, is the imbalance a known symptom of Myotonia Congenita because our consultant said he hasn't seen / heard of any cases that he has dealt with / read about that includes this symptom; although he's not ruling it out because it's an extremely rare condition and he hasn't seen many cases. Having read Rolma's thread where she mention's weariness and imbalance, I thought you may be able to help. since October 2013 my son is also sleeping for 16+ hours a day and this is impacting on his ability to do anything... he is so tired all the time..
PS my daughter and I have appointments in London on Tuesday so may find out a bit more....
I look forward to your response.
Type of Myotonia: Myotonia congenita
Pam, sorry your family has been through so much with the health problems!
Do you have DNA results on you and your daughter? It would be very unusual to have both CLCN1 and SCN4A mutations, although not impossible.
What you're describing sounds much more like a sodium channel mutation like paramyotonia congenita (which is usually more serious and progressive than hyperKPP).
It's very possible that issues like the gastroparesis, urinary retention or vertigo are totally separate conditions. I had gastroparesis and vertigo from a viral infection, not MC. There are things like Meniere's Disease that can cause imbalance and dizziness if it's cyclical. The headaches and reading problems may be related to MC because it does affect the ocular muscles. One of my daughters had trouble with that and got some good therapy that helped (things like putting colored acetate over what she was reading).
I would look for a specialist in Myalgic Encephalitis for your daughter to see if the virus caused some nerve damage. It is strongly associated with chronic fatigue, usually after contracting mono or a similar virus.
I would also ask for a second opinion about the gastroparesis. I can't believe a doctor would say she might need to have her bowels removed in the future. There are several options for treating it. One of my friends' daughters has a device that works by waving a magnet over the implant. Urinary retention is not caused by any of the myotonias that I'm aware of. Both that and the gastroparesis are probably caused by damage to the nerves in the spine, probably around the lower thoracic area. If she hasn't had an MRI, I would request that to check for narrowing or a tumor. If she's been injured there can be axonal damage which keeps the nerve impulses from being transmitted.
So I guess to answer your question, some of the symptoms you're describing MIGHT be related to myotonia, but there is definitely much more going on. It may be another genetic condition or something caused by environmental exposures. But definitely don't let the doctors blame it all on the MC.
The best doctor for you to see in London is Prof. Michael Hanna. If he is not the one your appointment is with, ask for a referral because of your unique family presentation. If anyone can sort it out, it would be him.
Let me know if I can help with anything -
Type of Myotonia: Thomsen's