Reflex Sympathetic Dystrophy (RSD and CRPS) Reflex Sympathetic Dystrophy (Complex Regional Pain Syndromes Type I) and Causalgia (Complex Regional Pain Syndromes Type II)(RSD and CRPS)


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Old 05-03-2007, 08:17 PM #1
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Hi everyone--
This mystery disease strikes again. My 13 year old daughter has battled RSD for a good 5 years. (Celebration moment--went to school this week for 1 class each day, first time since Christmas!) My other daughter has had symptoms in her wrist. She has not had a HUGE flare but several annoying ones that fit the description after a tackle on the playground. This week I found out that my 12 year old niece, ballerina, who has been struggling with a sore ankle since Christmas has been diagnosed with tendonitis and RSD. She has a cold food with the funky colors.

So, I come looking for links that talk about genetics. Any suggestions?
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Old 05-03-2007, 08:26 PM #2
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wow- they should get into a study of some sort!
Maybe something could be figured out as to as cause of it?
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Old 05-03-2007, 09:20 PM #3
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I can't post anything specific.... but I do recall reading that it can be genetic in some cases. My half sister had it, and our father had many nerve pain issues, and in hindsight, of what I remember of his problems, I think he probably had RSD also, but unsure. He passed away over 20 years ago, and my half sister has passed away too.

Since it may run in my family, it did stick in my head, and I did ask the Dr. I saw at Cleveland Clinic. She said it can - but in the majority of cases it does not. According to her, they have no clue why it would be genetic yet and was not sure anyone was studying it - or if it was just being casually observed and noted.
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Old 05-03-2007, 10:14 PM #4
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I found this....Richard Boles, MD, Director, Center for Metabolic and Mitochondrial Disorders at the Childrens Hospital Los Angeles. Dr. Boles and his team, Essam A. Zaki, Ph.D. Post-doctoral Student, Erin E. Baldwin, MS Genetic Counselor, and Katherine R. U. Heisner, BS, Research Assistant will study Maternally inherited mitochondrial DNA sequence variants and CRPS-I.

here's the link....
http://www.rsdsa.org/3/research/Bole...drial_html.htm
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Old 05-03-2007, 10:49 PM #5
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Hi RSDMom,

I don't think they have found a really definite gene connection yet, although it is suspected, but then they haven't really looked too hard. I have become quite interested in this topic, along with an interest in all the other conditions which are so similar to RSD/CRPS.

There is an underswell of opinion that thinks it may turn out that RSD is a disease with many subtypes and even subtypes of subtypes.

One of the conditions that interests me is eythromelalgia, which is so similar to RSD that I can't see the difference. I think it quite likely it could be a subtype of RSD (or the other way around?) - I'm no doctor, though, just giving you the benefit of my musings after reading up about it.
Here's a link for erythromelalgia:
http://www.erythromelalgia.org/tea/s...ythromelalgia?

I mention this because with erythromelalgia there is an identified genetic mutation in the gene SCN9A, though not all sufferers have the mutation. Many do, though.

If you haven't asked the docs about it (maybe you already have) I would ask them.

Here is an extract from a recent post of mine:

http://neurotalk.psychcentral.com/sh...ad.php?p=91469

"SCN9A-Related Inherited Erythromelalgia"
http://www.genetests.org/profiles/etha

"SCN9A-related IEM is characterized by recurrent attacks of intense pain, redness, warmth, and swelling involving the feet, and less frequently, the hands [Drenth & Michiels 1994]. Warmth is an essential part of the syndrome. During the attacks, the extremities appear red or purple and may be swollen. Commonly, the attacks occur in the evening or at night and so may not be observed by a physician. The individual may seek medical advice for painful extremities, but neglect to mention the characteristic warmth or redness (especially if limited to the soles of the feet). The symptoms are usually bilateral and symmetric. Within a family, the manifestations of the disorder may vary considerably."

.........Then, interestingly, there are other complications. They found a family of 6 kids in Pakistan with a genetic mutation of the SCN9A gene. They can't feel any pain at all.

"The mutation that takes away pain"
http://www.bioedonline.org/news/news.cfm?art=3002

"The researchers compared DNA samples from the six children and found that they all share a mutation in a gene called SCN9A, which is strongly expressed in nerve cells. They report their results in Nature.
The SCN9A gene encodes a 'sodium channel': one of the structures that allows electrical charge to flow into nerve cells, triggering a signal, the researchers explain. Without this particular type of sodium channel, the brain does not receive any signal that the body has encountered a pain-causing stimulus."


I'm not trying to suggest that your family has this instead of RSD. I'm just pointing you to some research into a condition that is so similar that any research in that area could have consequences for those with RSD and similar conditions.

Whether or not erythro is or isn't a subset of RSD, I have a feeling that the discovery of this gene mutation, both pain-causing and pain blocking, may help to further the understanding of all the other conditions which are so similar....I hope so, anyway.

I wonder what prompts doctors to send a patient for gene-testing? And what are the requirements for qualifying for the test? And are you only tested for the one condition suspected, or is it more general? I don't know....I'll continue my questing, but if anyone does know, please enlighten me.

I doubt if this is all that helpful to you, but it does show that there could be something to hope for down the lines, gene research is still in its infancy.

Has anyone here ever been gene-tested?

Anyway take care,
all the best

Last edited by artist; 05-04-2007 at 12:50 AM. Reason: tinkering...
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Old 05-04-2007, 12:37 AM #6
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Default Genetic research links

Hi again, RSDMom and Christine,

Here are some of the links I've gathered - but I can't get into many of the full texts, maybe someone here can help you out with that.

The first place to look is Holland, because the Netherlands are doing more research into CRPS/RSD than anyone else.

http://www.crps.nl/care_providers_+_....htm#_Genetics

"The aetiology of CRPS-1 is unknown, but there are indications that genetic factors are involved in this disease. Until now, the nature and significance of these genetic mechanisms have not been studied thoroughly. Two pilot studies at the department of Neurology of the Leiden University Medical Center provided evidence of familial clustering of CRPS-1 beyond what might have been expected based on current knowledge of prevalence rates. Although this finding may be partly explained by shared environmental factors, genetic influences are probably involved. The aim of this research line is to evaluate the extent to which genetic factors are involved in the initiation and progression of CRPS-1 and to study the nature of this involvement. Data is collected in three different ways, all of which involve the collection of DNA from both affected and unaffected family members. In the first approach families with at least two CRPS patients are collected. Linkage analysis in extended families and/or affected sib pair analysis in a large number of sibs will be used to determine the approximate chromosomal location of potentially involved disease genes. For the affected sib pair analysis we aim to include at least 160 affected sib pairs. In the second approach our objective is to enrol at least 325 family trios (patient and both parents) or nuclear families (patient and first-degree relatives) to assess association, using the DNA of parents, sibs or children as control samples. (Blood samples collected by the first approach will also be used in the second approach.) In the third approach the relative importance of environmental and genetic factors in the onset and progression of CRPS will be studied, using the data on the prevalence of CRPS and other trauma-induced syndromes (repetitive strain injury, fibromyalgia) from the Netherlands Twin Register.

With this approach we hope to determine the relative importance of genetic factors in CRPS-1 and to identify the loci involved in this disease. Knowledge of the responsible genes may enhance our understanding of the disease pathway, indicate directions for future research, and may ultimately help to identify potentially efficacious pharmatherapeutic interventions or yield targets for drug development.

For more information about this research line, please contact genetics@crps.nl"

Here are a few other links:

http://www.onderzoekinformatie.nl/en...ek/OND1317555/
Genetics of Complex Regional Pain Syndrome type 1
Period 03/2005 - 02/2013

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed
Pain. 2003 May;103(1-2):93-7.
"Susceptibility loci for complex regional pain syndrome."
van de Beek WJ, Roep BO, van der Slik AR, Giphart MJ, van Hilten BJ.
Department of Neurology, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

http://www.ncbi.nlm.nih.gov/entrez/q...&dopt=Abstract
Ann Neurol. 2000 Jul;48(1):113-6.
"Multifocal or generalized tonic dystonia of complex regional pain syndrome: a distinct clinical entity associated with HLA-DR13."
van Hilten JJ, van de Beek WJ, Roep BO.

"An association between HLA-DR13 and patients with complex regional pain syndrome (CRPS) who progressed towards multifocal or generalized tonic dystonia was recently reported. We now report on a new locus, centromeric in HLA-class I, which was significantly associated with a spontaneous development of CRPS, suggesting an interaction between trauma severity and genetic factors conferring CRPS susceptibility. Additionally, an association with the D6S1014 locus was found, supporting the previous finding of an association with HLA-DR13."

Good luck, if you find anything, please keep us informed,
all the best!

Last edited by artist; 05-04-2007 at 04:49 AM.
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Old 05-04-2007, 02:00 AM #7
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My uncle got it after a botched carpal tunnel surgery (both hands) - he killed himself with too many vicodins because the pain was too much. He was taking neurontin and withdrew so badly into himself, my aunt was worried about him greatly.

He was my dad's brother.
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Old 05-04-2007, 07:52 AM #8
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i don't have any facts on this, but i do have 2 comments:

my mother had trigeminal neuralgia (like rsd of the face).

several years ago i was at a seminar about rsd and one of the speakers was a doctor who has a huge rsd patient list....he's a family doc, but very knowledgeable about rsd and very good and the word just spread, so he ended up with all these rsd folks....he said at the time that he wasn't aware of any research being done on the topic, but was personally convinced that there was some genetic link.....he had several related patients....a mother/daughter combo, one niece/uncle, 2 sisters and so on....i may not have the details right, but i do remember hearing him talk about how many familial cases he had.

wish i had more info for u.
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Old 05-05-2007, 07:57 AM #9
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Thanks to everyone who wrote ideas and links. I will be able to spend some time in the next few weeks reading and researching. I am VERY interested in the study Dr. Boles is doing and our dr is all for us participating. We do have a new pediatiric genetics dr at our clinic so that might be a place to find out more info, once I kinda know what I am talking about.

I know Fibromyalgia runs in our family on my mother's side--I am positive my grandma had it and I do think my mom has it. I know I have been diagnosed as well.

So, good news alert--my daughter took her first step in 6 months!!!! yesterday.
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Old 05-05-2007, 08:44 AM #10
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Default it is great to hear

that your daughter took some steps................

interesting thread...........
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