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  #1  
Old 10-17-2006, 04:57 PM
hmm_md hmm_md is offline
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Question HNPP information anybody?

Hi, I just posted my story on a variety of communities here trying to figure out what is going on with me. A very smart individual on the MS board suggested HNPP (hereditary neuropathy and liability to pressure palseys). I went to the link she provided and BINGO! this looks like it fits me to a T. My main issues are a life long tendancy to pinch nerves and go numb for hours to months from silly things like wearing heels (toes), bike riding (hands), using scissors (fingers), crossing my legs, etc... you get the picture. My whole family is like this so I never thought of it as unusual until I left home. So we all live with this, it's just the way we are. My sister has had more severe issues and after a 6 month bout of drop-foot (that spontaneously resolved) she was tentatively diagnosed with Charcot Marie Tooth (CMT). That was later discarded in favor of MS. She didn't like that and hasn't gotten any worse in the 15 years since. I had a nerve conduction study many years ago that showed diffuse slowing in all nerves tested after I broke my ankle and crushed the tarsal tunnel, numbing my foot.

In the last year and a half I have been dealing with one sided facial pain and numbness. It has evolved into a burning that sequentially involves the tongue, then lips, then cheek, then eye, then ear and finally throat all on the left side. It waxes and wanes and seems to do so based on my stress levels. I have had CT and MRI, normal; as well as a battery of blood tests, normal; seen a neurologist who said I'm fine (ahem!) and an ear nose and throat doc who says I have non-motor Bell's Palsey (my research indicates there is no such thing).

So I threw the question out and feel like I am nearing a reasonable explanation. Now is there any treatment?? Does anybody know more about this obscure condition? Thanks in advance for your help.
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  #2  
Old 10-17-2006, 07:06 PM
leaf leaf is offline
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Hi there,
have you tried looking on www.Hnpp.org they also have a yahoo group,

http://health.groups.yahoo.com/group/hnpp/

and there are other CMT forums and websites that support Hnpp. there is CMTA which has a info page.

I was diagnosed 6 years ago. It is very misunderstood, and can cause much hassle. Most treatments are preventative. Braces for foot drop, splints for wrists etc. Pain is becoming more widely recognised as a symptom, but many write-ups will say it is painless, which is just too simplistic in its assesment.

There are only a few of us here with CMT/HNPP and there is a CMT forum. Some of us hang around in chat from time to time.

bfn,
jon
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HNPP - Hereditary Neuropathy with liabilty to pressure palsy.
HNPP UK Links and Info
Hnpp Info page : CMTA : CMT UK
Inner Ear Disease
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  #3  
Old 10-18-2006, 02:53 PM
hmm_md hmm_md is offline
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Default Thank you jon

I will check out your links and perhaps repost this question on CMT. Any help as far as tx to alleviate the pain? Thanks again for your valuable links!
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  #4  
Old 10-18-2006, 03:41 PM
leaf leaf is offline
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Hi Hmm_md,
You asked about sensory only Bells palsy in your first post. I think its quite common for those with Hnpp to have many sensory, skin numbness- touch, episodes. Usually several days to weeks in duration. I've have heard of others with similar problems as yours.
Do you know if you can get a DNA test done.?
I had nerve conduction tests at the same time as my son, as my doc recognised the family connection for ulnar nerve entrapment.
That prompted a DNA test for me, which took about 8 weeks here in the UK.
Like you say, it almost becomes commonplace in the family and everyone thinks its how it is supposed to be.
I saw a pain specialist, who was open to trying many different approaches, relaxation, meditation, medication, physiotherapy, and pressure relieving aids - tempur matress etc.
I dont think there's one thing that works for everyone, it's different for all, so there is a lot of trial and error.

Another good source of help might be MdaUSA -
http://www.mda.org/publications/fa-cmt.html

jon
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HNPP - Hereditary Neuropathy with liabilty to pressure palsy.
HNPP UK Links and Info
Hnpp Info page : CMTA : CMT UK
Inner Ear Disease
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  #5  
Old 10-19-2006, 08:35 PM
hmm_md hmm_md is offline
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Talking great info

Thanks Jon, you are a wealth of information. My sister's drop foot episode lasted for about 6 months. She was actually fitted with a brace. Most of the rest of the family and the rest of the episodes are pretty mild. I have had my entire arm go numb for about 6 weeks after gardening. I thought I herniated a disc. The MRI was normal.

This burning sensation over the left face has become a real drag. I am so tired of it after a year and a half. At least since it hasn't progressed to anything more ominous that is good. HNPP actually seems like an excellent fit for a diagnosis. I was hoping for a treatment that would make it just go away. I guess that is not realistic. I have always had to just wait until my episodes resolve on their own in the past.

Although, when I had carpal tunnel syndrome, simply sleeping with the wrist braces worked easily and fairly quickly. I have now 'trained' myself to sleep with my wrists straight and rarely have a problem. (Now I lay on my side at night and wake up with both arms asleep and cartoon-character hands -- feel like they're as big as the bed). At any rate, in my circuitious way -- sorry, I'm thinking that the duration of this may be related to a chronic entrapment, much the same way as my wrists being bent every night in my sleep was causing the carpal tunnel problem. I was once diagnosed with temporo-mandibular joint problems by a dentist. I wore a mouthguard for years to stop grinding my teeth and for headaches. When I had some dental work ages ago I stopped wearing it. Maybe I should get a new one. If the trigeminal nerve is being pinched everytime I open my mouth and especially if I'm clenching or grinding my teeth in my sleep -- when stressed, exactly when this flares-- that may explain a lot.

I think a dentist may be my next stop. Getting the genetic test may be interesting but it seems somewhat unecessary as there isn't much that can be done. I had to laugh at the preventative measures that were listed on the website. All stuff I have been intuitively avoiding since childhood anyway, a no brainer!

It is good to have a name for this, though. My mom, sister and I have all had abnormal EMGs which have caused us all worry and the neurologists just want to keep giving us new EMGs every year to track us. We all said no thank you!! We will have to become sufficiently miserable to repeat that lovely experience.

BTW, my daughter doesn't seem to sense it when she is either hungry or has to urinate. She does both out of habit (she's 13), and when I remind her, and is often surprised at how much better she feels. I'm wondering if she represents the "next generation" of neuro abnormalities. Ever heard of that?
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  #6  
Old 10-20-2006, 05:58 AM
leaf leaf is offline
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I would imagine your neuro should be able to make a diagnosis based on your symptoms, ncv/emg, and such a strong family history. It certainly sounds like HNPP.

I suppose I was tested because it seemed to pop out of nowhere, that is I have no obvious family history. I think there possibly are some family members with hnpp, but very mild, some even believe I'm making it up, such is the level of denial. I'm still convinced that its just become a part of family culture that often symptoms are accepted as normal. I honestly thought that everyone had dead arms in the morning, or a foot which goes to 'sleep' if crossing legs or sitting on it... etc etc..
However it could be that I am a new mutation, the first in the line, but that is quite rare. My doctors have suggested this.

I've got a good AFO, its a spiral type, made from composite material, so it's really light and strong.

I havent heard of symptoms getting progressively worse with successive generations, as far as I know it shouldn't do that. Some of the current research does suggest that other genes not in the deleted region may alter the presentation, a small mutation elsewhere which would normally not cause disease does so when coupled with the Hnpp deletion. It's suggested that this may be the reason for such variability in symptoms. I must look for the reference for this, I think it was James Lupski's hypothesis, he was partly responsible for discovering the mechanism of the Hnpp deletion in 1993.
http://imgen.bcm.tmc.edu/molgen/facultyaz/lupski.html
http://www.imgen.bcm.tmc.edu/molgen/lupski/

Jon
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HNPP - Hereditary Neuropathy with liabilty to pressure palsy.
HNPP UK Links and Info
Hnpp Info page : CMTA : CMT UK
Inner Ear Disease
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  #7  
Old 10-25-2006, 07:21 PM
hmm_md hmm_md is offline
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Default connection between HNPP and hearing loss, vertigo?

I just read your bio on one of the links you posted. The history of hearing loss and vertigo jumped out at me. My grandfather (who complained of numb fingers after doing certain tasks on the farm) became progressively hard of hearing from a young age. My dad, always very protective of his hearing, wearing ear plugs for anything noisy or prolonged, has had the same course. He has the most trouble with his arms going numb in his sleep especially if over his head. He has to call for help to get his arms lowered when this happens. My youngest sister has been going deaf slowly since she was about 35. She hasn't turned 40 yet and is getting a hearing aid.

My sisters and I have all had bouts of vertigo. About 20 years ago I had what was diagnosed as viral labrynthitis. I had about 3 weeks of intense vertigo. At the worst I couldn't tell up from down and wasn't able to get off the bed or walk. Even sitting or lying I was sure I was being pitched through the air and tossed off the bed. I still have moments of really scary dizziness, but they always go away so fast that I haven't mentioned it to a Dr. (I can imagine the conversation: I get dizzy sometimes. Are you dizzy now? No. Were you dizzy today? No. How long does it last? A few seconds. So..... what did you want me to do for you?) My sister that had the foot drop episode has been diagnosed with Menieres. My sister that is going deaf gets dizzy and has a terrible time with motion sickness.

Is this a coincidence or do you think HNPP is related to inner ear problems? I never thought to put them together before.
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Old 10-26-2006, 07:16 AM
leaf leaf is offline
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I was surprised at the number of people with both meniere's and HNPP, not everyone but even finding one other with both in a group of 130 people would have been a surprise. But there were at least 6 others, and then there were those with hearing loss and tinnitus or and other forms of hearing loss such as Auditory neuropathy.
I have tried to discuss this with my Doctors but they are so blinkered. I may as well talk to a clod of earth, at least it wouldn't be patronising and arrogant.

There have been several reports in med literature pointing out this combination, most recently this one,

Quote:

Otol Neurotol. 2005 May;26(3):405-14.

Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations.

* Verhagen WI,
* Huygen PL,
* Gabreels-Festen AA,
* Engelhart M,
* van Mierlo PJ,
* van Engelen BG.

Department of Neurology, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands. w.verhagen@cwz.nl

OBJECTIVE: To characterize and distinguish the types of sensorineural hearing impairment (SNHI) that occur in hereditary motor and sensory neuropathy Type 1a (HMSN-1a) and hereditary neuropathy with liability to pressure palsies (HNPP), which are caused by deletion or frameshift mutation. STUDY DESIGN: Prospective study. SETTING: Ambulatory patients in a university hospital. PATIENTS: Twelve patients with HMSN-1a due to a duplication of the PMP22 gene on chromosome 17p11.2, 16 patients with HNPP due to the common PMP22 deletion (HNPP del), and 11 HNPP patients with a frame shift mutation (heterozygous PMP22 G-insertion) (HNPP mut), all confirmed by molecular genetic analysis. INTERVENTIONS: Pure-tone audiograms and speech audiograms were obtained. MAIN OUTCOME MEASURES: Results of cross-sectional analysis comprising linear regression of hearing threshold on age. RESULTS: Pure-tone audiograms showed mild to moderate SNHI, predominant at the low and the high frequencies. SNHI showed significant progression by approximately 0.4 dB per year at 0.25 to 4 kHz and up to 1 to 2 dB per year at 4 to 8 kHz. Patients with HMSN-1a had substantial, presumably congenital, SNHI but did not show significant progression beyond presbyacusis. Patients with HNPP showed postnatal onset at age 11 years with progression of SNHI in excess of presbyacusis by 0.4 dB per year. All three types of neuropathy showed normal speech recognition. CONCLUSIONS: All three types of neuropathy showed SNHI with normal speech recognition. HMSN-1a showed stable SNHI without progression beyond presbyacusis. HNPP showed progression beyond presbyacusis with postnatal onset. The differences in SNHI may be explained by the differences in PMP22 expression. The progressive SNHI in HNPP might be explained by the liability for exogenous factors associated with this disorder.

PMID: 15891642 [PubMed - indexed for MEDLINE]
I think the conclusions hit the nail firmly on the head.

I've tried numerous medical treatments, and even surgery (saccus decompression) to control the vertigo, all with limited success. I use cinnarizine as a vestibular sedative and to reduce nausea, it is also supposed to have some action on the fluid balance of the inner ear by it's calcium channel blocking action. I think in the US it's stronger and longer-lasting derivative is sometimes used - Flunarizine. It's a type of anti-histamine, but with other effects. It can also be used as a Migraine preventative, though not very often.

Do you also suffer from Migraine? I wondered whether this might be the provoking factor for some.

Jon
__________________
HNPP - Hereditary Neuropathy with liabilty to pressure palsy.
HNPP UK Links and Info
Hnpp Info page : CMTA : CMT UK
Inner Ear Disease
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  #9  
Old 10-26-2006, 02:26 PM
hmm_md hmm_md is offline
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Default dizziness, deafness and migraines

This is really fascinating to start to tie a lot of these seemingly unrelated things together. I didn't mention, but remembered reading your last post, that my grandpa, dad and sister with the hearing problems all complain of really noisy tinnitis. My grandpa used to get really aggravated. He would say he felt like he would be able to hear if the ringing would just get a little quieter, it drowned everything out.

I do get migraines. Thankfully, they are not the intractable kind and are usually very responsive to an over the counter remedy (I usually take Excedrine Migraine which contains aspirine, caffeine and acetominophen). I know that one of my triggers is hormones as I started to get them really badly, really frequently and more difficult to get rid of when taking a depot form of progesterone for birth control. When I stopped that and switched to a non hormonal method, I went back to the occasional, easy to control kind.

Let me ask you this: have you seen any relationship (or heard of it) between HNPP and Benign Hypermobile Joint Syndrome (aka: Ehlers Danlos type IV)? It's a mutation in the gene that codes for collagen fibrils making them too stretchy. This is something that I am 99% sure runs rampant in our family (more from Mom's side). Personally, I've herniated a disc, torn both rotator cuffs (shoulders) with subsequent chronic dislocation, dislocated a tendon in my left ankle, etc. Other family members with similar stories. It seems that the joints that slide around too much, the swelling after injuring myself + the tendancy to be numb and have decreased sensation kind of work together to make me miserable..... well, that's overly dramatic... it's a way of life that makes me look like I must be a klutz.

When I was going to PT for my ankle after surgery to put the tendon back where it belonged they used electric stimulation to the area to promote increased blood flow. They told me to let them know when I started feeling shocks and they would dial it back a notch. They kept turning it up, I felt nothing. Finally they stopped because it had never been that high and checked the plugs and connections thinking it wasn't working. Then the therapist tried it out on himself and yelled "ouch!!" He couldn't believe I felt nothing at all. We realized then that one of the reasons I keep hurting myself is that I don't feel that warning pain to stop doing something dangerous until I have a blowout.

BTW what is an AFO?
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Old 10-27-2006, 06:06 AM
leaf leaf is offline
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I nearly fell off my chair when I read your post!

I don't know about any relationship between ED and HNPP, though I have heard of a few others with very lax joints, but no definite DX of ED. I have always been a bit on the 'loose' side, but not to that extent. However, with my fathers history, he died from aortic aneurysm rupture at age 37, there is a query over Marfans syndrome, which I think is a similar problem to ED.
I had pretty much dismissed that as being a problem for me, until they measured my leg and arm length compared to my height, and I'm well above the normal range. Armspan 6-6, height 5-11. My legs are a bit on the long side but not as excessive as my arms. I am awaiting a full scan of my aorta with measurement of the Aortic root. HoHum... fingers crossed ...

Oh almost forgot... AFO - Ankle-foot Orthosis - I have one for my right leg, because of the foot drop. I have a Toe-Off, spiral type, made from hard composite material. Light and very effective, but chews up shoes for breakfast. Buying suitable footwear to go with it isn't easy.
http://www.camphealthcare.com/orthopedics_toeoff.html

Some people over in the UK are trying the SAFO, they are expensive though.
http://www.safo.eu.com/en/index.html

Jon
__________________
HNPP - Hereditary Neuropathy with liabilty to pressure palsy.
HNPP UK Links and Info
Hnpp Info page : CMTA : CMT UK
Inner Ear Disease
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