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Diagnosis & Future

Prognosis

- 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

Treatments

- 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

How is it diagnosed?

- 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

Causes

- 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

Clinical Signs

- 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

What it's not.

What did I learn?

- 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.

Future

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.

Isaac's Syndrome/

Neuromyotonia

In Conclusion...

Isaac's Syndrome

References

So what is it?

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

Jamie Thomas

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