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- because so little is known about it, it's hard to say
what the long term outlook for patients will be, but
it's sounding relatively infatal
- unfortunately, no cure is currently available
- immunosuppressants
- anticonvulsants (typically prescribed for seizures) such as phenytoin and carbamazepine can provide relief from stiffness and pain
- plasmapheresis - plasma exchange in which harmful antibodies are removed from the bloodstream
- EMG test (thin needle pushed into muscle that reads electrical activity)
- blood tests to confirm concentrations of Ca, Mg, P, & K
- test for anti-VGKC antibodies
- caused by autoreactive antibodies that specifically
target voltage-gated potassium channels (VGKCs)
- block their function/cause degeneration
- VGKCs are there to restore the voltage difference between the outside and inside of a nerve fiber after an impulse
- impairing these prolongs the impulse
- can also come in conjunction with other
autoimmune disorders
- progressive muscle stiffness
- continuously contracting/twitching muscles (myokymia)
- cramping
- increased sweating
- delayed muscle reaction
- weakened reflexes/muscle pain
- stiffness typically occurs in limb/trunk area,
but can also be limited to cranial muscles
- periodic muscle twitches that most people
get from mineral deficiencies/stress
- strictly classified as Neuromyotonia (broader category used to describe the way it acts, but is not specific enough)
I had never heard of the disease before, so this was all
new information to me.
I also didn't realize the true rarity of the disease when I
was originally looking for something to present on.
There are so many conflicting websites because so little
is known.
National Institute of Neurological Disorders & Stroke
is continuously doing research on diseases that affect
the brain, spinal cord, muscles and nerves, however
there was nothing specific listed for Isaac's Syndrome.
http://www.riversideonline.com/health_reference/Nervous-System/AN00824.cfm
http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm
http://www.socialstyrelsen.se/rarediseases/isaacssyndrome
http://www.rightdiagnosis.com/i/isaacs_syndrome/intro.htm
- Neuromuscular disorder characterized by hyperexcitability and continuous firing of nerve axons that activate muscle fibers
- Incredibly rare