Friday, June 24, 2016

Dravet Syndrome

http://www.dravetfoundation.org/dravet-syndrome/what-is-dravet-syndrome) is one of the most difficult-to-control forms of epilepsy.  Also known as Severe Myoclonic Epilepsy of Infancy (SMEI), it is characterized by developmental delays, frequent
infections, sleeping problems, growth and nutritional issues, and difficulty walking, among other things. It is a very devastating syndrome, which starts by a gene mutation (SCN1A) in 80% of people.  Generally, it starts in infancy and the seizures do not respond well to medications.  Also, EEGs and MRIs are normal at infancy.  However, when seizures start and intensify, development delays occur.

The types of seizures associated with Dravet syndrome are:

Myoclonic—shock-like jerk of a muscle or muscles, person is aware
Tonic clonic—stiff, fall, jerk, a few minutes long; if longer than 5 minutes long, call 911
Atypical Absence—staring and unresponsive, eye-blinking, jerking of the lips, 5-30 seconds, can’t be produced by holding breath
Absence—staring, only a few seconds long, can resume activity; complex—lip smacking, chewing motions, moving hands
Atonic—loss of muscle tone, if standing the person will fall
Non convulsive Status epilepticus—clusters of seizures

Dravet Syndrome became well-known thanks to a young girl named Charlotte Figi 
who has that type of epilepsy.  She tried medical marijuana and her seizures improved greatly.

However, this is not the answer for everyone.  Medical marijuana (cannabis) success stories are mostly anecdotal.  So far, there have not been many studies on the effectiveness of medical marijuana because of the restrictions of the law.  There are only a few states in the U.S. where it is legal.

Until we have definitive research that concludes that CBD is effective, I would not try it.  Unless, of course, I had no other choice.  Perhaps it would work.

In the meantime, there are medications that are tailored to treat Dravet Syndrome:  topiramate (Topamax), clobazam (Onfi, Frisium, Urbanyl), clonazepam (Klonopin, Rivotril), leviteracetam (Keppra), and valproic acid (Depakote, Depakene, Epilim, Epival).

The Ketogenic Diet and Vagus Nerve Stimulator are also possible options.

References

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