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Personal genome map solves Calif. teen's illness

charityfundraiser

Senior Member
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Personal genome map solves Calif. teen's illness
http://www.sfgate.com/cgi-bin/article.cgi?f=/n/a/2011/06/15/national/w134155D65.DTL

At age 2, doctors concluded cerebral palsy explained their movement problems. But by 5 1/2, their mother, Retta Beery, suspected something else. Alexis would wake up able to walk but by late morning couldn't even sit up or use her arms.

Beery read about a different disease named dopa-responsive dystonia, a neurological disorder that causes muscles to spasm and twist. It mimics some of cerebral palsy's symptoms but has those daytime fluctuations and is treatable with the Parkinson's drug levodopa. Sure enough, the twins' muscles began working so normally that over the next few years they played softball and basketball and ran track.

The two best-known gene culprits weren't causing her dystonia. It was a different genetic mutation that lowered her body's levels of another brain chemical, serotonin, as well as dopamine, scientists reported in the journal Science Translational Medicine.

With that finding, doctors added to Alexis' daily treatment a serotonin-producing medication that stopped her airway spasms and let her get back to sports.