i would like to hear from anyone who has neuromytonia (Isaacs syndrome)?
I would also be interested in hearing what medication you have been given and if anyone has had a heomoglobin transfusion
There is no cure for neuromyotonia. The long-term prognosis for individuals with the disorder is uncertain. Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with neuromyotonia. Plasma exchange may provide short-term relief for patients with some forms of the acquired disorder.
Please see the webpage for more details on Neuromyotonia (Isaacs' syndrome) (+ info
what is it
what is it
what does it do
what is it
what does it do
Isaccs syndrome (also known as neuromyotonia, Isaccs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by continuous signaling of the end regions of peripheral nerve fibers that activate muscle fibers (motor neurons). Symptoms, which include progressive muscle stiffness, continuous vibrating or twitching muscles, cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when patients are under general anesthesia. Many patients develop weakened reflexes and muscle pain, but numbness is relatively uncommon. Although symptoms can be limited to cranial muscles, in most patients stiffness is most prominent in limb and trunk muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Age of onset is between ages 15 and 60, with most patients experiencing symptoms before age 40. There are hereditary and acquired forms of the disorder. The acquired form may develop in association with peripheral neuropathies or as an autoimmune condition.
Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain associated with Isaacs syndrome. Plasma exchange may provide short-term relief for patients with some forms of the acquired disorder.
There is no cure for Isaacs syndrome. The long-term prognosis for individuals with the disorder is uncertain. (+ info
What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?
I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?
Klinefelter syndrome (+ info
Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?
Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.
There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.
Read more at:
Welcoming Babies with Down Syndrome (English, Spanish, French)
There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:
And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet
You might also enjoy
Margaret's Guide to Down Syndrome
For bios of actors with Down syndrome, see:
Down Syndrome and the Acting Gene
DS in Arts and Media
Down Syndrome Links at the Family Village website
Check out this recent New York Times article:
The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus
Have fun with your research!
What is so bad about having down syndrome?
I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?
WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.
It's always nice to have other people, who see that they are more alike, then different from the rest of us. (+ info
What is the syndrome called when you cannot feel physical pain?
I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.
What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.
It is for a story I am writing but I don't entirely know what it is.
It's called "congenital insensitivity to pain" (+ info
What syndrome would someone have that the doctor would need to put them on bloodthinners?
My sister is 18 and just moved out here from MN to go to school. She has had many medical problems and been to several doctors. She recently told me that the doctor said there was something wrong with her blood and she needs to be put on blood thinners for the rest of her life. What syndrome could this be?
There are several, but the first that comes to mind is Factor-V (five). (+ info
What is the syndrome where boys usually grow more than average?
I think it is Jacobs syndome.. XYY syndrome.. but wikipedia says that is only a little more than average. what is the only where they get really big ?
Yes it is called gigantism. It is caused by a tumour or either a chromosome disorder. Another thing that causes gigantism is the inability to inhib the GH (growth hormone) when it is produced. This is why the people who have it get very TALL. (+ info
Adrenal Fatigue Syndrome where in Philippines can i get a help?
I need some help with Adrenal Fatigue Syndrome. My mom thinks she has this Adrenal Fatigue Syndrome and needs a doctor to confirm this. Where in the Philippines can I find help or what type of doctor she should see? Do you know one? Please advice
What are the chances of my children having Tourette syndrome?
Im planning to have a family in the future. Both of us dont have this syndrome. However, her mother does from her grandpa. Only blinking eyes. What are the chances of passing this on? Also, if it is passed on would it only be blinking eyes or could it be other symptoms of this same syndrome?
Were you aware that there is a National Tourette Syndrome Association? I would suggest contacting them and asking these questions. (+ info
We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.