BrainTalk Communities 10/2006-8/2011 Archives

BrainTalk Communities 10/2006-8/2011 Archives (
-   Peripheral Neuropathy (
-   -   HNPP information anybody? (

leaf 10-27-2006 08:11 AM

I've just seen a mention of this, Anesthesia Dolorosa, and it sounds much like the symptoms you were describing.

hmm_md 10-27-2006 08:04 PM

lax joints
Well to be perfectly honest, I've come to the conclusion that I have hereditary Benign Hypermobile Joint syndrome the same way I'm comming to the conclusion that HNPP seems to fit perfectly. Between the two virtually everything is explained for many family members. I wonder if we could interest a neurologist to study the overlap between the two syndromes.

My sister who had the drop-foot and meniere's has a "Marfanoid" look with the long limbs and digits. She had to have bilateral tendon release surgeries on her knees in highschool because of chronic dislocation.

My mother and daughter can dislocate their shoulders painlessly at will. I have had shoulder injuries and while my shoulders dislocate fairly regularly it is certainly not painless and certainly not at will.

My sisters, myself and all my children can do a weird 'bendy' thing with our thumbs that make them look like rubber that usually nauseates the uninitiated (and tends to delight us).

If I had to bet I would think that the two were probably linked in some way. Either close on the same chromosome or influenced by the same factors.

What a find to come across someone from around the world that has a similar history. Though we are probably not so genetically distant. Many of my ancestors came from England. One of the most notable was John Guild who came from Suffolk in 1632. (I don't know that he was notable in England, but he's probably the first in the American line).

Oh, I got the link you posted on CMT on facial neuralgias. Thank you! That is a pretty close description. Best of all though is that the Dr. mentioned is at Cedars-Sinai. That is the hospital 2 of my children were born in. Very close. I will try to contact him.

leaf 10-28-2006 04:05 PM

I'm sure there are quite a few others like us with Hnpp. It's funny to hear you talk about your mother and sister dislocating their shoulders at will. I was asked about dislocations by the geneticist with reference to marfan's. I actually said no, but wanted to say that as a child I could pull my shoulders out quite easily, I'm not sure whether that was what was happening or not, and as I grew older I ceased to be able to do it. as I wasn't sure I chose to say no. hmm I wonder.

I've had a fair few knee problems as a teenager, and later in life when cycling to work everyday. But no dislocations, thankfully. knee problems of one type or another do seem to be very common in Hnpp and Cmt. Being such a complicated joint and having to bear such heavy loads it almost seems inevitable. The laxness maybe something else on top. Or maybe even as a result of genes whose function is yet to be discovered, that exist in the deleted region. I think there are 44 in total... only 4 are known ... maybe 5 ...

I've been researching my family history recently, and there is a branch of the family from Suffolk, though I cannot get back further than the late 1700's, with the Hammond, and Upson families. I was able to introduce my mum to a 2nd cousin she didnt know about, they've been chatting on the phone over the last week. I think they both enjoyed talking about their past and growing up on the streets of London between the two world wars.
I'm still non-the wiser on who I inherited Hnpp from, perhaps I really am a new mutation. That feels quite unsettling in some ways.........

Good luck with the neuralgia doc. I hope you manage to get some answers and better still some treatment of some kind, though I've found that most treatments are fairly conservative and preventative in nature. But its a step in the right direction.

best wishes,

LizaJane 10-29-2006 01:10 AM

When I was first being worked up for the cause of my neuropathy, I had similar suspicions to you about HNPP or CMT variants. My family has a history of hereditary sensineural deafness, which is clearly an autosomal dominant and has devastated my mother's side of the family. In addition, that side has hammer toes, "weak ankles", and very low indurance. My mother, for example, had difficulty with any endurance sport when young, and now, in her 80s, can say she's either sprained or broken an ankle countless times.

Since my childhood, my limbs always fell asleep easily, which I thought was kind of a game, and would do on purpose sometimes. My ankles frequently turned, and I had zero endurance. I was put in remedial gym for not being able to run around the track, yet won the President's Physical Fitness Award, because I could do countless situps and climb a rope to the ceiling in record time. I developed bunions. I had orthostatic hypotension.

And then, I developed neuropathy. And went for a quest for the mega-workup and genetic work-up. Nothing came up.

Since then I've just had major back surgery because of synovial cysts causing spinal stenosis and cauda equina syndrome. Why? Because I have spondylolisthesis because my spine is so mobile.

In the end, it doesn't matter about finding the gene; it matters about figuring out how to protect, save, and improve regeneration of our nerves.

But I am a stickler about diagnosis, and put together a website:, which has spreadsheets outlining the tests available for finding an etiology. I think I've listed most of the genetic testing available at the time I put the site up, maybe 1 1/2 to 2 years ago noww.

Please check it out. If there are tests I've missed and you think I should include, let me know.

Good luck in all.


leaf 10-29-2006 08:11 AM

Well it has been known for some to still have a diagnosis of HNPP even though genetic tests are negative, other investigations will also be required to exclude other pathological processes. And of course we are human and may have other ailments besides.

Having a genetic test for pmp22 deletion/duplication is usually the most definitive way to diagnose Hnpp, but it's not fool proof. I could have declined having the test, but the most likely diagnosis was Hnpp, with the other possibilities having been eliminated. A geneticist will most likely discuss the problems associated with having a genetic test.

Consulting a competent neurologist is the best way forward for a diagnosis, and suitable treatment. That may or may not require finding the gene responsible.

As far as I know the CMT1a/Hnpp test is the same. It will find the common deletion or duplication. Less common mutations involving only a few base pairs within a particular gene can also carried out, along with gene sequencing. It all depends on the Lab that carries out the tests.

A good list of tests available can be found here,

LizaJane 10-29-2006 11:26 AM
When I put together, I used a lot of sources for the recommendations. Athena was one. Washington School of Medicine, Mayo Clinic, textbooks, and articles also helped. You seem to be very knowledgeable about testing for these disorders. If you think there's anything worth adding to lizajane, I'd love the input. Sticking with Athena will get some tests done but does not cover everything.

leaf 10-29-2006 12:19 PM

I only know what I've read on the Athena site. Someone in the UK asked recently what tests were available in the UK after reading about the tests in the US. Athenalabs seemed well ahead in the game, only the very basic tests are available over here.
jo n

LizaJane 10-30-2006 02:50 AM

Again, anybody who is still being diagnosed can benefit from looking at the charts on I'm not going to beat a dead horse about it, but it's a pretty comprehensive list, and organized in such a way as to make conversation wtih doctors about diagnosis more structured.

It works for other things we need to follow about ourselves, and catches trends before we'd find them if we were looking (our docs looking) at individual reports.

But I'm glad you've gottent the tests you feel you need. In fact, when the cause is obvious, one can do a lot just working with that. It took me over a year to surrender to the diagnosis of idiopathic and give up the hunt for a cause.

But even then, I did not realize that cauda equina syndrome causes peripheral neuropathy of the legs, and that I had not been evaluated for that.
By the time it was diagnosed, I'd been extremely symptomatic for a year. And, having decided that I had "idiopathic" peripheral neuropathy, all my doctors attributed that year's worth of symptoms to it. So now, cauda equina syndrome work-up makes it to the chart.

hmm_md 10-30-2006 04:03 PM

hammer toes and spondylesthesis
Wow. I'm falling off my chair reading the added posts by LizaJane. Hammer toes are rampant on my father's side of the family. He has to wear specially made shoes because of it (would never consider surgical correction). My sister (Meniere's, dislocating knees, drop-foot) had her hammer toes surgically corrected, however has suffered from recurrent neuromas in the area ever since. They also have an extremely high arch. I inherited my mother's normal feet but she is the one with the lax joints that I've gotten in spades. The description of LizaJane's mom with the numerous ankle injuries would also describe me. I have had 3 surgeries on my left ankle (once broken 3 places, once dislocated tendon), broken right foot and too many sprains to count.

Oh, and speaking of spondylesthesis -- my mom was recently told that that is the cause of her recent spate of bad headaches and numb arms (her issues are in the neck area).

I think maybe I am the result of two families and their disorders colliding! I will check out the website and use it to come armed to my next drs appt. Thanks.

LizaJane 10-31-2006 09:19 PM

hmm--you think you might be a CMT variant, or something specific other than HNPP, or just one of that vague category of inherited neuropathies?

I'd say my family has a long history of nervous systems which don't work quite right, but don't kill anyone. Orthostatic hypotension, other autonomic signs, high arches with weak ankles, poor endurance, nerve deafness, my daughter with "growing pains" in her legs at night since age 1 or 2 (?restless legs?) and scoliosis. ADD. You know, nerves at risk might just be that--nerves at risk, running in a family, but not meeting anyone's specific criteria for a specific defect.

Nonetheless, based on the history, I take everything I can to beef up my mitochondria and energy production, as well as the usual antioxidants and fish oil. Yoga helped, but then I got the cyst, so now I'm getting ready to settle for tai chi.

Please let me know how you doctors react to the charts; most are happy to be given a direction.


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