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Dopa-responsive Dystonia

Posted by pixel8mbb on July 23, 2020, at 23:12:24

I don't see any posts here on this subject, probably because it's a very rare condition, but also said to be under-diagnosed. There are two genes that can cause it, the one I have is in the GCH1 gene, the SNP known as rs41298442. There are lots of papers being written about it, more all the time, but most doctors dont know much about it. Its most obvious symptoms are muscular dystonic symptoms, but recent studies have shown more about psychiatric symptoms.

Wikipedia explains it thus: the precursor of the neurotransmitter dopamine, L-dopa, is synthesised from tyrosine by the enzyme tyrosine hydroxylase and utilises tetrahydrobiopterin (BH4) as a cofactor. A mutation in the gene GCH1, which encodes the enzyme GTP cyclohydrolase I, disrupts the production of BH4, decreasing dopamine levels Wikipedias BH4 page says its also used in the biosynthesis of serotonin, melatonin, norepinephrine, epinephrine, and is a cofactor for the production of nitric oxide (NO).

Not having enough BH4 results in decrease in neurotransmitters, which results in DRD, and the expression of DRD symptoms varies from subtle to severe. In addition to the GCH1 mutation there is another gene that can have the same effect. Wikipedia does not include much from studies showing psychological symptoms of DRD, which include depression, anxiety, OCD, problems sleeping, and others.

My muscular symptoms are fairly subtle, although my mother asked the family doctor about my muscles when I was a child, and I can look back and identify with dystonic symptoms from an early age. I think my psychological symptoms have been more debilitating, including all the above listed, and Ive tried dozens of psych meds for many years without much improvement or tolerance. Lately Ive been having some improvement with TMS for depression and OCD.

Doctors prescribe levodopa/carbodopa as primary treatment for DRD, but at least one study also recommended medications to increase serotonin.

I didn't put my symptoms together under a "DRD" diagnosis until my 23andMe DNA data showed the gene in my raw data, after I had it analyzed it through DRD is one of the rare conditions that is caused by a single gene, and with Promethease it came up first as my most significant mutation. Since 23andMe does not guarantee accuracy, I had my DRD gene checked by a professional lab, and it was confirmed.

I'm waiting for a neurology appointment in a couple of months, at UC San Francisco, not my favorite healthcare provider but its nearby. If any dr-bob readers have any information to share or recommendations on healthcare for this condition I would be very grateful and Id be glad to answer any questions Im able to. Caveat: Im not an expert, just a pretty good researcher, but its been hard to be a lone researcher on this. Im now at retirement age, and after struggling through life until now, Im not ready to give up if there could be help, and I would also like to contribute information about this condition and help others if I can.

Since genetics is so new, I guess its understandable that doctors are not yet using it much as a diagnostic tool, but I'm still a bit surprised about that. My DNA report also came up with a gene that explains why I, and my mother (I had her DNA done too) had very bad reactions to anesthesia. We share a mutation that makes one intolerant in a dangerous way to a certain anesthesia, one which doctors can avoid if they know. Im sure there are many genes that would be helpful for doctors to know about.

Thanks to all the great Psychobabble folks whose posts Ive been reading for many years with great interest and sympathy.





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