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Please note: This section could also be called "ask the experts". Questions are being posed to expert neurologists and other specialties for their responses.
Doctors, Testing and Diagnosis
Coping with HNPP
Living with HNPP
Question about negative genetic test: I have run into 3 or 4 people in the past several months, who have read about HNPP and think that they have found the answer to what ails them. They can relate to the intermittent periods of numbness and weakness, CTS and some have family histories. Yet the genetic test is negative. Is it likely that there are several types of HNPP just as there are several types of CMT? And what would you suggest they do from here?
Answer: We know that only about 80% (70% in some studies) of HNPP patients have the deletion in chromosome 17. A few of those negative cases have had identified point mutations of the gene. Thus it is certainly possible to have the disease with a negative gene test but it is unusual. The first thing to do is to establish a diagnosis which would require careful examination, EMG studies and nerve biopsy. If all of these indicated the HNPP diagnosis and the family is large enough, a search could then be made for other genetic abnormalities.Gareth J. Parry, M.D. Professor and Head, Department of Neurology, University of Minnesota 6/99
Question about annual doctor visits: Should Hnpp patients have annual checkups...I mean, I wonder what they would do...just tell me my hands are the way they are because of HNPP and smile and then I go home? I just never made any more appointments because I figured everything was useless....
Answer: This is a very fair question and one for which there is no definite answer. I believe that the doctor-patient relationship is a partnership and it is important that the doctor knows how each individual patient responds to his/her disease. I ask all of my neuropathy patients to see me at least annually so that we can both keep in touch so that when I really do need to do something I know the person as an individual and I also know what the status of their disease has been. We as physicians cannot learn about how "untreatable" diseases such as HNPP affect our patients unless we see them from time to time. Then we are criticized for not being understanding when our patients tell us of there complaints because we often do not understand. It is only by seeing patients on a regular, though usually infrequent, basis that I have learned what I now know of this annoying and occasionally disabling disease. - [Gareth Parry, M. D.]
Question if EMGs are painful or dangerous: EMG's are a subject that frequently come up in the HNPP email group. Some have horror stories about how painful the testing was as well as a need to be sedated in some cases. Is there a reason for them to be more painful? Are they dangerous and harmful to us as a select few believe?
Answer: Please let me correct the misconceptions regarding EMGs. EMGs can be uncomfortable and for some people quite painful. Some patients with CMT-1A require higher amounts of electrical stimulation and many of these patients find the test very painful. However, pain is subjective and there are a lot of patients (CMT 1A included) who have no discomfort with the same amount of stimulation that someone else can't tolerate. I have been doing EMGs for over 20 years on thousands of patients and I have never had to sedate an adult for the test and less than 1 in 500 cannot complete the conduction part. A number of people are "needle phobic" and don't tolerate the needle EMG part.
There is no evidence that EMG is harmful to anyone-(except for rare people with pacemaker wires in their arms). It does not hurt your nerves. We have studied a number of people with HNPP and there is no evidence that the electrical stimulation damages the nerves. The pressure of the prongs on the nerve could cause pressure palsies, I suppose, but so far no one that I am aware of has complained of this. The EMG is a crucial test for this disorder and the benefits far outweigh any risk (if there is any) and the discomfort. A knowledgeable EMGer( doctor doing test) can do the test minimizing discomfort. [Richard Lewis, M.D., CMT Clinic, Wayne State University]
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Question about restless leg syndrome: Several group members are experiencing restless leg syndrome. Would this be expected in a peripheral neuropathy. Any treatments?
Answer: There is a lot of confusion amongst the medical profession about restless legs and I suspect that confusion is communicating itself to the patients. There is a specific syndrome called "restless legs syndrome" that is probably inherited. It is characterized but an uncontrollable need to move the legs. These patients don't describe pain or discomfort; they actually have a lot of trouble describing their symptoms and have no idea why they feel the need to move their legs. These patients often respond to treatment with Sinemet, the drug used to treat Parkinson's disease. I don't think that is exactly what HNPP patients are describing. Certain patients with neuropathy of any kind frequently feel the need to move their feet. They constantly change position, wriggle their toes, get up and walk around etc. They also tend to hang their feet out of bed at night. The main difference is that these patients usually also describe pain or at least discomfort; it may not be severe pain. Thus, the restless legs in these people is a symptoms; a reaction to some kind of abnormal feeling in their feet. These symptoms usually do NOT respond to Sinemet but they do respond to some degree to standard treatment for neuropathic pain such as amitriptyline or gabapentin. - [Gareth Parry, M. D.]
Question about memory: Those of us taking neurontin can attest to the memory problems- losing train of thought, word finding, forgetting whole conversations, forgetting where we put things, saying the opposite of what we mean etc. And we have assumed it was the neurontin. Yet an equal number of others who are NOT taking neurontin are also experiencing the same problems. This seems to be beyond the normal forgetfulness and for some it is getting worse. Any thoughts on this????
Answer: I am not aware of forgetfulness being a problem with HNPP patients other than related to drugs. One of the commonest causes of forgetfulness in young people is distractibility. For example, when one is anxious about an exam or some such life crisis, one tends to forget the less pressing things associated with every day life. I frequently see patients with serious illnesses have major problems with memory. If HNPP is creating significant problems perhaps it is distracting the victim from their everyday activities. It is a possibility but I suppose there may also be some direct effect on the brain although the protein for which the gene encodes is not a CNS protein. - [Gareth Parry, M. D.]
Question about being hot: 3. Besides the cold hands and feet, the topic of being HOT came up. Now those of us in our late 40's and female can blame it on hormones, but the guys are also mentioning it. As are younger females (20's and 30's). What is being talked about is hours or most of a day when they are hotter than others around them and then revert to normal- what ever that is....thoughts????
Answer: Some patients with neuropathy have involvement of the autonomic nerves. This results in a decreased ability to disperse heat through sweating in the distal parts of the limbs (hands and feet). Its earliest manifestations may be increased sweating, particularly on the torso but also distally. Eventually there is decreased distal sweating but the increased sweating over the torso often remains. Patients rarely notice decreased sweating. HNPP patients were thought not to have involvement of the autonomic nerves because they are mainly non-myelinated. However, the more patients I see the more I am impressed that autonomic features do occur although they are seldom severe. I haven't personally come across increased sweating since I started routinely asking about autonomic symptoms but perhaps it is just a matter of time. Some other autonomic symptoms include postural dizziness (because the blood pressure may fall on standing), bloating after meals (due to slow emptying of the stomach), constipation, difficulty getting the urine stream started, male impotence and changes in foot color (red or bluish). The last is the one I have seen most often in HNPP. You will notice that many of these symptoms are not specific to neuropathy. Constipation, for example, is common in any one who becomes less active so if the HNPP reduces physical activity it is hard to know if the constipation is due to autonomic involvement or to inactivity. - [Gareth Parry, M. D.]
Question about digestive slowness: So it is your opinion that the HNPP may be the cause of the digestive 'slow-down' most of us experience by mid 30's-40's???? Or is it more so just our genetic blue print kicking in????
Answer: If by "slowing of the digestive system" you mean constipation then I don't think that HNPP has a direct effect. Constipation is a common complaint in HNPP patients probably related to relative inactivity imposed by the disease and in some cases exacerbated by medication. Most of the nerves that control the stomach, intestines and bowels are not thought to be affected by the abnormal myelin since they are mainly unmyelinated in their normal state. Regardless of its cause the management is the same. Maintain as much physical activity as the HNPP will allow. High fluid/high fiber diet. Occasional use of laxatives is OK but avoid them as much as possible. - [Gareth Parry, M. D.]
Question about nerve twitching: I get nerve twitching just about all the time as well - less so now that I'm on antidepressants, usually in my eye area, legs and arms - this has also happened just about all my life.
Answer: Muscle twitching is called fasciculation and is common in any disorder of nerves. It also occurs in normal people, particularly after exercise. It typically settles down a bit with drugs like neurontin, tegretol, amitriptyline, clonazepam etc. It can be annoying but is quite benign. - [Gareth Parry, M. D.]
Question about morning stiffness, stiffness after resting and difficulites with balance: Many people can relate to what they are calling "Morning stiffness". They feel stiff when first getting up in the morning, after naps, or if sitting for a prolonged period. Backs and both legs are key problem areas. Others describe balance problems or trouble walking at first after rest. The more they move around they better they feel. Can you explain what is going on? Why this is happening? As one group member's mother so aptly describes it, she needed time to "get her transmission working".
Answer: I think these symptoms are an exaggeration of a normal phenomenon; or at least it is common to all neuropathies, not just HNPP. As we get older we all experience a bit of morning stiffness and an off balance feeling when we first get up. I know I do but whether it is just my age or is related to my neuropathy I am not sure. When I first get up in the morning or after a nap I feel as if I am about 80 years old, both from stiffness in my back, hips, ankles and feet, increased pain in my feet and a feeling of poor balance. After walking around for a few minutes, never more than 15 minutes, I feel back to my normal. I regard it as an accelerated aging response resulting from the nerve damage from the neuropathy. I know this is not a very scientific explanation but it is the best I can come up with. I know it is a real phenomenon. - [Gareth Parry, M. D.]
Question about fatigue, and a normal exam and getting the doctor to recognize the fatigue as real: One individual wrote about significant problems with fatigue. "I am bothered by fatigue and can only work half days now - I tried several times to do more and it just didn't work. The only way I make it half days is to come home and have a nap so that I can be with my family for the evening." Despite this, the neurological exam was considered normal. Can it really be normal? The neurologist doesn't seem to think that there really can be (in some cases) fatigue like this with HNPP.
Answer: Unfortunately this is not an uncommon experience. Fatigue is such a nonspecific symptom and one that so many normal people have that it tends to be discounted by many doctors and particularly by insurers. However, patients with any neuromuscular disease have disabling fatigue as the result of subtle, often subclinical weakness. Even if the neurological examination shows normal strength it doesn't necessarily mean that the motor nerves are functioning normally. If there is a reduced number of motor nerves the remaining nerves need to work extra hard to keep strength at or near normal. Thus an individual may be able to momentarily generate normal strength, during the neurologists exam for example, but cannot sustain that activity over their waking hours and fatigue develops. Thus, it is possible that the neurologists exam might be normal despite disabling symptoms. This is well accepted in a neuromuscular disease called myasthenia gravis but it does not seem to be so widely accepted in other neuromuscular diseases. HNPP patients have an added problem over and above that experienced by patients with other neuromuscular diseases and that is the effect of repetitive activity on the nerves - it actually causes more nerve damage. - [Gareth Parry, M. D.]
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Question about what has been tried to treat HNPP: Virtually all of us have been told that there is no treatment for HNPP, although some symptoms can be treated, such as pain. Has anything been tried to treat the HNPP itself, especially for those experiencing more severe symptoms? What about steroids, plasmaphoresis, IVIg, etc.? Or is everyone assuming that it can't be treated because it is inherited?
Answer: It is true that there is currently no treatment for the disease itself. However, there are some potential therapies in the pipeline. Neurotrophic factors are molecules produced in tiny amounts by our own bodies and they have been shown in animals to be able to sustain and stimulate nerves to grow in a variety of neuropathic conditions. So far, none has been successful in humans but a few trials have been carried out a more are likely in the future. There have been no trials in inherited neuropathies such as HNPP or CMT but I think that is just a matter of overcoming some of the technical obstacles. If we can show that these molecules are effective in some other conditions such as diabetic neuropathy then I think that we may see attempts made to use them in inherited neuropathies.
The other treatments noted below (IVIg, Avonex etc) are all forms of immunotherapy and have no role in HNPP. A number of patients have received these drugs when it was mistakenly thought that they had a disorder called chronic inflammatory demyelinating polyneuropathy or CIDP, that superficially resembles HNPP. None improved as the result of the treatment. - [Gareth Parry, M. D.]
Question about human growth hormone: One individual is reporting success with taking a human growth hormone. Appareltnly this individual gets almost complete relief of numbness, pins and needles and most pain after three months of HGH therapy. Once the hormone is stopped, most symptoms have returned by the end of 5 months. But back on the hormone again, the symptoms again reverse. Is this a possible treatment for significant HNPP symptoms? Is anyone studying this?
Answer: It is very interesting the growth hormone seems to have benefited that one patient. Growth hormone does have neurotrophic activity although that is not its major action. It suggests that some of the improvement may be related to neurotrophism and supports the concept the more potent neurotrophic factors may have a role in hereditary neuropathies. However, I would caution everyone against making too much of a single report of subjective improvement. - [Gareth Parry, M. D.]
Question about ulnar nerve surgery: Can you give any general guidelines as to when you would consider ulnar nerve decompression surgery (not transposition)? How "bad" would the EMG have to be? Or the patient's symptoms? Would it ever be done mostly for pain?
Answer: I would recommend simple decompression of the ulnar nerve if there is progressive weakness and I would consider surgery for intractable pain that is clearly attributable to the ulnar nerve. I would not recommend repeat surgery if someone has had recurrent symptoms after surgery. The EMG I use to confirm my clinical impression and for prognostic purposes but not to guide my decision vis-a-vis surgery. Finally, I would warn the patient that the surgery may be partially or even totally ineffective and that recurrence of symptoms is highly likely. - [Gareth Parry, M. D.]
Question about carpal tunnel surgery: What about the surgery for Carpal Tunnel Syndrome (CTS)? Can you give any general guidelines as to when you would consider thesurgery? How "bad" would the EMG have to be for this? Or the patient's symptoms? Would it ever be done mostly for pain?
Answer: I have less reluctance to recommend surgery for CTS, both because the complications are fewer and the results are better. These patients almost always have pain while the ulnar patient more often have weakness. Conversely, pain is less common in ulnar compression and weakness is a late feature of CTS. Both disorders have loss of sensation but it is usually more disabling in CTS because it affects the thumb and first finger. Once again, I am reluctant to recommend re-operation because I have not found it to be effective the 2nd time round. However, I have had patients who went for 2nd and 3rd surgeries and at least they did not have complications. Some have achieved minor benefits from re-operation.- [Gareth Parry, M. D.]
Question about wrist splint use: I know Maureen has mentioned that she wears her hand braces at night whenever she is having numbness. Considering I had CTS surgery in August and the other hand in November (asking in April), should I begin wearing my arm braces again at night? So far, I am having good results from the surgery but feel like I am on borrowed time before my arms begin to regress. My arms ache but I don't have the "burning" pain from the ulnar nerve shooting up my arms like before surgery. Would wearing braces again help me buy time? "
Answer: I cannot see how it would hurt. There is no data on which to base a recommendation. However, if one assumes that positioning of the hands in hyper-flexion at the wrist during sleep is the cause of the nosturnal symptoms, then preventing that with splint may delay the recurrence of symptoms after surgery.[Gareth Parry, M.D.]
Question on night numbess: Is the nightly numbness that wakes us up, but goes away with a change in position causing long term damage. Would not this be adding to the wear and tear on the nerves and lead to the long term and permanent problems, though not necessarily severe?
Answer: This question is really an extension of the one above. To rephrase it, does recurrent compression lead eventually to increasing nerve damage? The answer is not as simple as it might seem. The main cause for the progressive nerve damage that is seen in many patients with HNPP is that a progressive generalized neuropathy as an integral part of the disease, even in those patients who have never had an episode of transient compressive symptoms that they can recall. However, it seems plausible to assume that additional intermittent compressive damage occurs and probably contributes to the ultimate nerve damage. [Gareth Parry, M.D.]
Question on treating tendonitis : I was just diagnosed with (Dequervains) tendonitis (at base of thumb) after trying to use thumbs that wouldn't do what I wanted them to do. I have been splinted for ten days so far. Any suggestions, beyond the normal treatment because of the HNPP?
Answer: Tendonitis is such a common complication of any neuropathy because people try to keep going despite the weakness. The stability and function of joint, ligaments etc is dependent on normal muscle strength so trying to do things inevitably leads to inflammation and pain. Nothing special to do. Initial rest (+/- splints) and then careful return to activity. [Gareth Parry, M.D.]
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Question about coping with fears: What words of wisdom do you have or how do you help patients cope with the fears of the unknown future with a progressive disease? And what more do you say when it looks like things may be more severe?
Answer #1: I try to distinguish realistic and reactive anger and depression in the setting of chronic illness from counterproductive or dangerous anger or depression. The former is normal, the latter requires treatment. When people feel they cannot or do not want to participate in life because of these feelings, it's time to consider professional counseling and treatment. This isn't a sophisticated neurologic opinion, of course, it's just commmon medical sense. As you point out, the appropriate reactive anger and sadness are things that groups, family, and friends, can help with, and things that should be expected. And yes, doctors are not good at predicting and people are therefore wise to plan, short of wildly unrealistic goals, their lives in an optimistic fashion. (neurologist)
Answer #2: Dealing with the unknown about the future is one of the hardest things that someone with a life long disease has to deal with. Unfortunately I have no simple answers. I tell patients to live their lives as if they are going to be one of the fortunate individuals who is going to be mildly affected but I know that is a bit trite. I think that one of the greatest services you have provided to the HNPP community is this web site. I often wonder whether support groups should be established. They have certainly been helpful to people with other medical and neurological conditions. One problem is that there is still relatively few people who have serious manifestations of this disease and it might be hard to get enough support groups established in different areas to be useful. There is no doubt that one of the frustrations is dealing with the disease with such a poor general understanding of its effects in the medical and even the neurological community. If more people had access to doctors who really understood the huge variability of the disease they would feel validated int heir complaints and concerns and that would help, at least emotionally. As you can see - very few solutions.- [Gareth Parry, M. D.]
Question about fears of the future: How is a young person isuppose to cope when they know that their senior years are going to be pure hell. My Dr. asked me what I thought about my future, I replied What future? I am 38 yrs. old and the fourth generation in my family to have this "WONDERFUL AFFLICTION!" I don't mean to sound angry but I am. I have prayed to God my whole life NOT to have this happen to me but hey God saw things differently. "
Dear "What Future?",
Frequently what is suggested includes material that you have already heard and/or known. This can be both annoying and/or affirming.
Please read the following with the knowledge that we have not met. The suggestions are meant to be helpful even though they are not as individualized as might be most useful.
Coping usually needs to include a wide variety of activities, strategies, and emotional space. Anger has its place. The danger is getting stuck there. The challenge is to decide how long to choicefully explore and express that aspect of your reactions. Give yourself permission to be constructively angry. Figure out what that is for you.
You mentioned God and your view that God saw things differently than your prayers had requested. Your view of the Creator's choices may be usefully re-examined as any view of God selectively handing out various illnesses tends to promote helplessness, alienation and often depression. Discussions with clergy, friends or family who are willing to genuinely explore this area may assist in developing other possibilities regarding God's role in your illness.
As you are likely to be aware, you are the single, most important factor shaping your future. Intentional efforts by you to promote hope can make a difference. Promoting an approach to living that makes the most of your situation is dealing with your illness. Coping is not about fate. It is about personal choice.
Making time to grieve the loss of some of your dreams includes working with your anger. During other times, it is important to become as knowledgeable as possible so that, for instance, you can remind yourself that the course of the illness among blood relatives does not predict your own course or future.
There certainly is more that could be written about social support and other aspects of self-care, but I think this will do as one installment on the challenging issue of coping with a progressive illness.
Mark L. Miller, Psy.D.
Question about helping a child cope wiht HNPP: How do we convince an almost 9 year old that his symptoms may never get as bad as his fathers, when he sees his dad struggle with HNPP on a daily basis?
I would suggest altering your goal from convincing your 9 year old that his symptoms won't be as bad as his father's to a goal of assisting your son to focus on the different ways his father (and mother) copes and lives well within the limitations of a progressive condition. Most likely, he will need to acknowledge his fears in order to work with them versus fighting against or avoiding them. This is apt to be true for any and all of the other emotions experienced in reaction to his father's illness - the need to have permission to have his feelings and to develop constructively approaches to them. Knowing that he can voice worries arises out of the experience of finding people willing to listen respectfully and supportively. He may especially need permission to have the feelings without having them fixed right away. This may require that you listen without going on to try and make it all better for him.
One way to assist him with this is age (and maturation level) appropriate sharing of your fears and responses to the fears. While you can overwhelm him with too much information, you can also inhibit the development of coping skills by excessive withholding of information about how you manage to deal with the day to day challenges and the furture concerns.
As you have probably already observed, your role modeling is your greatest gift to your son. His observations of how you deal with the daily challenges are likely to be his most powerful coping tool now and in the future. If you define health as making the most of your given circumstances, then showing him how to live within the context of an illness versus "being the illness" becomes a most valuable example from which he will be better able to protect and nurture hope.
Providing information to your son about HNPP can be one way you reassure him of the fact that you cannot predict his own course from the course experienced by a relative. Knowledge at age appropriate levels is power.
While more could be written about this, this seems like enough for now. Know that other questions are welcome.
Mark L. Miller, Psy.D.
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Question about driving: Several people with more extensive problems have mentioned legs and feet going numb while driving, not knowing where their feet are and feet slipping off the pedals. For some this is intermittent. For others it is permanent. So when they stop driving until they see their doctor about this, what does the doctor advise? And what about the use of hand controls when hands are numb?
Answer #1: Unfortunately, anyone who is confident of unpredictable symptoms that affect driving - whether they be due to neuropathy or other conditions - should not be driving. I think the difficult thing is being confident that the symptoms are clearly due to the neuropathy and knowing whether they are due to a postural compression that can be alleviated.(neurologist)
Answer #2: I have yet to see a patient who has needed to stop driving. Several have learned that they have to more careful but have also learned to adjust. They become aware that they have difficulty knowing when their foot is squarely on the controls so they drive more defensively. Neither have I faced the issues of hand controls but I think they are not likely to be a good idea. The use of hand controls is likely to make the hand symptoms worse. I think it is yet another area where HNPP patients have to adjust. Actually, the commonest complaint I have heard about driving is that the butt and legs go numb and I recommend that people not drive more than about 30 minutes before resting. Using cruise control on the highway so that you can move about more also helps a little. In general, it is better to get someone else to drive whenever possible but it is not usually necessary to give up driving completely, or at least no one has yet had to do that. - [Gareth Parry, M. D.]
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