How to Work that Body with Neuropathy

More stating the obvious in today's post from articlesnatch.com (see link below) but nevertheless we know we have to try. The problem with painful neuropathy is that it can turn you into a couch potato before you realise what's happening. It's not laziness, it's the pain but underneath we all know we have to make some effort because extra weight and weak muscles only make the neuropathy symptoms worse. This article is gentle and doesn't beat you over the head with must-do's - definitely worth a read every few months!

"but, Doctor, It Hurts When I Exercise…"
By: John Hayes Jr

What do you do when your neuropathy or some other painful condition just makes it hurt to work out?

It helps to not only lose weight but keep your weight under control…

It strengthens your bones…

It improves your cardiovascular health…

It has even been shown to fight depression…

And if you happen to have diabetes, you know how important exercise is in managing your glucose levels.

But what do you do when your neuropathy or some other painful condition just makes it hurt to work out?

If you struggle with neuropathy, complications from diabetes, post-chemo nerve pain or any other painful medical condition, it can be really easy to just sit around and do nothing.

Because it just hurts too much to be active.

But it doesn't have to be that way. Do some exercise that doesn't need ache from your joints. Try it now but don't give yourself into so much pain just like what you feel.

Most of us would agree that it be far better to prevent suffering like this by doing the necessary amount of exercise every day. Follow this movements to start you with:

Yoga

Yoga will keep you limber and stretches the muscles in slow, easy, fluid movements. You can do it as slowly as you like. You don't have to qualify as a Cirque Du Soleil acrobat to get the benefits of a good yoga practice. Just do the postures to the best of your ability. If it has been awhile since you've exercised, don't expect to be limber overnight. Give yourself time.

Yoga stretches the muscles and increases muscle strength simply by using the body's own weight. No extra equipment, no extra weight on painful joints or swollen feet. Just what you already carry. That's tailor made for people suffering from nerve pain.

Tai Chi

Tai Chi is a very slow moving martial art. Each and every movement is done slowly and through a complete cycle, works every muscle group in the body. Even though it is not a strenuous exercise program, the health benefits for your bones and muscles are undeniable.

Once again, Tai Chi uses the body's own weight to strengthen the muscles. Your sore joints and swollen tissue aren't subjected to increased weight. And because the movements are slow and fluid, no added pain from sore muscles to complicate the symptoms of neuropathy that you already suffer from.

Swimming

If your joints are so painful that walking is not a good option for exercise, try swimming. Your movements are easier in water and you will put little weight or pressure on your feet. Make sure that the water is warm, not cold. Prolonged exposure to cold water will have a detrimental effect on your circulation and make a bad situation worse.

Swimming is also a wonderful way to strengthen your cardiovascular system and do so without taxing your limited strength. If you suffer from pain in your legs and feet, the buoyancy of the water takes some of the pressure off your extremities. Just being in the water can provide some relief from the pain in your nerves.

Stretching

Stretching exercises are a great way to increase muscle strength without causing your tender nerves more pain. Try to do some bending when you are in Bed and relax your body thoroughly.

This is a good stretching program that will give you a good total body stretch without ever getting on your feet. Manage an stretching exercise 6-8 times. Do not wait until it's too late before you start the stretching exercises:

• Start with your fingers and toes and gently stretch and contract them
• Next, move to your wrists and ankles and make circles with the joints
• Bend your elbows, bring your hands in to your shoulders
• Bend your knees, one at a time, toward your chest
• Bring your arms up to your ears and down, gently stretching your shoulder muscles
• Raise each leg, keep it straight, and raise it as far as you can.

None of these stretches requires a broad range of motion but will increase the circulation in your arms and legs and work your joints.

Stretching does not requires so much effort from your body. Try to be relaxed while taking time to loosen your muscle and balancing your blood circulation. When you deal with debilitating pain, just doing those two things can lead to great improvement in your overall health condition.

Start small, take it easy and do the exercise you choose at your own pace. Be gentle with yourself. If you do an exercise, it allows you to loosen the muscles and to prepare them for the daily activity that lies ahead. It is also important to spend enough time on stretch exercises because the better prepared our muscles are, the more vigorously we can train them. And that's the best way to ensure a good outcome from any medical treatment.

Dr. John Hayes, Jr. - Envy Award Nominee who writes "Living and Practicing by Design" and "Beating Neuropathy.

http://www.articlesnatch.com/Article/-but--Doctor--It-Hurts-When-I-Exercise-hellip--/1955747

More Evidence That Inhaled Cannabis Helps Neuropathy Pain

Today's post from the ever-reliable sciencedaily.com (see link below) provides yet more evidence that inhaled cannabis can be one of the few genuinely effective means of quietening neuropathic symptoms. Of course, smoking a joint is also inhaling cannabis (or at least the THC component) but many people quite understandably, can't take the smoking aspect of it and inhaling via vaporizers is for them, a better solution. The argument drags on but the more studies like this one, the more the relevant authorities will be convinced that it doesn't lead to a path of depravity and ruin. Meanwhile, savvy neuropathy patients have known this for years and regularly control their pain by means of inhaled cannabis, with no ill effects. When the moral and law-giving forces catch up we may get sensible legislation rolled out across the world.

Inhaled cannabis shown effective for diabetic neuropathy pain
Date: July 20, 2015 Source: American Pain Society 

Summary:

Inhaled cannabis reduces diabetic neuropathy and the analgesic effect is dose-dependent, new research suggests. Researchers conducted a randomized, double-blind study evaluating 16 subjects to assess the efficacy and tolerability of inhaled cannabis for treating pain caused by diabetic peripheral neuropathy (DPN).

FULL STORY

New research reported in The Journal of Pain, published by the American Pain Society, shows that inhaled cannabis reduces diabetic neuropathy and the analgesic effect is dose-dependent.

Researchers at the University of California San Diego conducted a randomized, double-blind study evaluating 16 subjects to assess the efficacy and tolerability of inhaled cannabis for treating pain caused by diabetic peripheral neuropathy (DPN). They studied the effects of low, medium and high doses of inhaled cannabis on DPN pain and hyperalgesia. Subjects participated in four outpatient treatment sessions, separated by two weeks, in which they were exposed to placebo or three different doses of aerosol 1% THC, the most abundant and psychoactive compound in cannabis. As a drug delivery method for marijuana research, inhalation is preferred because the pharmacokinetics of inhalation are superior to smoking, as peak effects occur quickly and are more easily titrated.

DPN occurs in half of diabetes patients and 15 percent have pain, especially in the feet. Many patients do not achieve satisfactory relief from two FDA-approved treatments. Animal research in models of neuropathic pain suggest that cannabinoids may be effective in reducing pain, but no studies have focused specifically on painful DPN.

"We hypothesized that inhaled cannabis would result in a dose-dependent reduction in spontaneous and evoked pain with a concomitant effect on cognitive function," said lead author Mark S. Wallace, M.D., professor of anesthesiology, University of California San Diego School of Medicine.

Results showed there was a dose-dependent reduction in pain intensity from inhaled cannabis, which the authors noted is consistent with results of other trials of the drug for diverse neuropathic pain syndromes.

"The dose dependent analgesic effect was evident for both spontaneous and evoked pain in the trial subjects, but it was more consistent on spontaneous pain," said Wallace.

The also authors reported that all subjects experienced either euphoria or somnolence, which may limit the acceptability of cannabis as an analgesic. However, in measuring the impact of inhaled cannabis impact on cognition (attention and memory), they found modest effects with no dramatic declines or impairments.

"These findings along with previous studies suggest that cannabis might have analgesic benefit in neuropathic pain syndromes, including treatment-refractory DPN," said Wallace.

Story Source:

The above post is reprinted from materials provided by American Pain Society. Note: Materials may be edited for content and length.

Journal Reference: 
 
Mark S. Wallace, Thomas D. Marcotte, Anya Umlauf, Ben Gouaux, Joseph H. Atkinson. Efficacy of Inhaled Cannabis on Painful Diabetic Neuropathy. The Journal of Pain, 2015; 16 (7): 616 DOI: 10.1016/j.jpain.2015.03.008
 
http://www.sciencedaily.com/releases/2015/07/150720115147.htm

Just Saying That Exercise Helps Neuropathy Doesnt Necessarily Make It So

Today's post from nursing.onclive.com (see link below) again promotes exercise as a way of reducing neuropathy symptoms but in this case, the evidence seems a little thin. By testing a group of cancer patients with neuropathy as a side effect, they found that walking and other general exercise prevented the symptoms from worsening, especially in older patients. I would suggest that moderate exercise will help older patients feel generally better anyway than sitting or lying for long periods of time but they'll need to provide much more specific evidence to prove that neuropathic symptoms can be reduced by a graduated walking course. In this case, I would suggest that with this sort of patient, there are far too many variables to come to the conclusion that exercise is more effective in reducing or limiting nerve damage symptoms in older people. That said, there is a general consensus among doctors that regular exercise will improve neuropathy, or at least stop it getting worse but in this case, I feel too much is being assumed from too little data.

Walking and Resistance Training Eases CIPN, Especially Among Older Patients
LAUREN M. GREEN @OncNurseEditor Wednesday, July 20, 2016

Patients undergoing chemotherapy prescribed a formal exercise program experienced less chemotherapy-induced peripheral neuropathy (CIPN), and the finding held true across all chemotherapy regimens tested. The effect was strongest in older patients, according to findings from a nationwide randomized controlled trial reported at the 2016 ASCO Annual Meeting.

CIPN is a highly prevalent and severe side effect of certain chemotherapy types, such as platinums, taxanes, and vinca alkaloids, affecting more than 50% of patients receiving these therapies. Nevertheless, “there are currently no established treatments for CIPN—despite 50 randomized clinical trials—testing the efficacy of drugs to prevent or treat it,” explained lead study author Ian Kleckner, PhD.

Kleckner, a research assistant professor at the University of Rochester Medical Center, and colleagues performed a secondary analysis of a subset of 314 sedentary patients receiving taxane-, vinca alkaloid-, or platinum-based chemotherapy derived from a larger, phase III, national, randomized controlled trial (N = 619).

The majority of patients were women (92%), and 78% had breast cancer. They were randomized to chemotherapy alone or chemotherapy plus exercise. Patients randomized to the EXCAP arm (Exercise for Cancer Patients) which is a personalized, 6-week, home-based, moderate-intensity progressive program, were prescribed a daily walking regimen (eg, steps per day), supplied with pedometers, and also given a set of resistance bands to perform specific exercises.

Walking and resistance exercises were recommended for the control group. They did not receive any formalized support; however, control participants were given the exercise kit at the end of the study.

The investigators used patient self-report of tingling and numbness at baseline and after the intervention, rated on a 0-10 scale with 10 being the worst level of CIPN. In the EXCAP arm, CIPN was reduced compared with controls, with an effect size of 0.26 (P = .06), and the finding was independent of other variables, such as gender, BMI, and cancer stage. However, age was a moderating variable.

“We found that exercise was more effective for older patients,” said Kleckner. “Older patients in the control arm experienced a large increase in CIPN after 6 weeks of chemotherapy, whereas older patients in the experimental exercise arm had a very small, if any, increase in CIPN.”

Kleckner said that based on these findings, he and colleagues hope to expand their research. “What we’d like to do now is design a randomized clinical trial testing exercise against chemotherapy alone, where CIPN is the primary outcome. Only one trial to date has looked at this, and it was very small—60 patients.”

He hopes researchers can identify biomarkers in the brain circuitry or signals of the role inflammation may play to help better identify who is most at risk for CIPN.

Over the next few years, Kleckner would like to see this research continue to “scale up, so we can better learn about the effectiveness of exercise, understand what dose/intensity of exercise is important, what type of exercise, and who responds best to exercise … we’re hoping for an exercise prescription, instead of the generic ‘please exercise.’”

Kleckner I, Kamen CS, Peppone LJ, et al. A URCC NCORP nationwide randomized controlled trial investigating the effect of exercise on chemotherapy-induced peripheral neuropathy in 314 cancer patients. J Clin Oncol. 2016; 34 (suppl; abstr 10000).

http://nursing.onclive.com/web-exclusives/walking-and-resistance-training-eases-cipn-especially-among-older-patients

THAT SMARTPHONE IS GIVING YOUR THUMBS SUPERPOWERS

When people spend time interacting with their smartphones via touchscreen, it actually changes the way their thumbs and brains work together, according to a report in the Cell Press journal Current Biology on December 23. More touchscreen use in the recent past translates directly into greater brain activity when the thumbs and other fingertips are touched, the study shows.

"I was really surprised by the scale of the changes introduced by the use of smartphones," says Arko Ghosh of the University of Zurich and ETH Zurich in Switzerland. "I was also struck by how much of the inter-individual variations in the fingertip-associated brain signals could be simply explained by evaluating the smartphone logs."

It all started when Ghosh and his colleagues realized that our newfound obsession with smartphones could be a grand opportunity to explore the everyday plasticity of the human brain. Not only are people suddenly using their fingertips, and especially their thumbs, in a new way, but many of us are also doing it an awful lot, day after day. Not only that, but our phones are also keeping track of our digital histories to provide a readymade source of data on those behaviors.

Ghosh explains it this way: "I think first we must appreciate how common personal digital devices are and how densely people use them. What this means for us neuroscientists is that the digital history we carry in our pockets has an enormous amount of information on how we use our fingertips (and more)."

While neuroscientists have long studied brain plasticity in expert groups--musicians or video gamers, for instance--smartphones present an opportunity to understand how regular life shapes the brains of regular people.

To link digital footprints to brain activity in the new study, Ghosh and his team used electroencephalography (EEG) to record the brain response to mechanical touch on the thumb, index, and middle fingertips of touchscreen phone users in comparison to people who still haven't given up their old-school mobile phones.

The researchers found that the electrical activity in the brains of smartphone users was enhanced when all three fingertips were touched. In fact, the amount of activity in the cortex of the brain associated with the thumb and index fingertips was directly proportional to the intensity of phone use, as quantified by built-in battery logs. The thumb tip was even sensitive to day-to-day fluctuations: the shorter the time elapsed from an episode of intense phone use, the researchers report, the larger was the cortical potential associated with it.

The results suggest to the researchers that repetitive movements over the smooth touchscreen surface reshape sensory processing from the hand, with daily updates in the brain's representation of the fingertips. And that leads to a pretty remarkable idea: "We propose that cortical sensory processing in the contemporary brain is continuously shaped by personal digital technology," Ghosh and his colleagues write.

What exactly this influence of digital technology means for us in other areas of our lives is a question for another day. The news might not be so good, Ghosh and colleagues say, noting evidence linking excessive phone use with motor dysfunctions and pain.

Denying Pain Patients Opioids Is That Humane

Today's post from huffingtonpost.ca (see link below) written by a pain specialist, is a sensible article calling for common sense in the opioid debate and lamenting the fact that current systems are either black or white with no common ground to include the needs of chronic pain patients for whom opioids are a godsend. This row is set to go on and on but the fact remains that if you're a severe neuropathy patient, in daily pain ranging from mild to wild and you've been through the whole spectrum of standard drugs to reduce the symptoms, opioids may be the only solution to let you have a reasonable quality of life. To deny them this option is tantamount to torture! Definitely worth a read.

Limiting Opioids Alone Is Not A Sustainable Pain Care Plan  
Beth Darnall Professor, Writer, Opioid Expert Posted: 06/09/2016


Canada and the U.S. have seen alarming increases in opioid prescribing and in opioid-related overdose deaths. Prince's tragic opioid-related death further highlights this international public health problem.

Indeed, the spectre -- and reality -- of opioid limits have sent shockwaves through segments of the chronic pain community. The vast majority of individuals prescribed opioids take them responsibly, yet are now subject to laws created to prevent illicit opioid use.

Patient advocacy groups have loudly decried unjust medical care for chronic pain. Limiting opioids may preclude some opioid overdose deaths, they say, but what about the untold suffering -- and the suicides -- that may occur when patients cannot tolerate severe ongoing pain? The lives of people with chronic pain matter, too, and they should be treated as patients, not as addicts.

It's a Catch-22, of course. The opioid debate engenders strong emotions for both sides: opioid access versus limits. Is it really a zero-sum game where one group must suffer so the other group may survive?

Even when opioids are taken exactly as prescribed by exemplar patients, they come with a range of health risks including overdose fatality. How do we address the need to reduce health risks while treating chronic pain?

Do opioids help some people with chronic pain? Absolutely. For this reason, prescribers must retain discretion to prescribe them, while recalling that it will be for a minority of patients. Opioids may help, but they can't be the whole story.

We don't have good data to show that the average person taking opioids long term gets better in terms of pain or function. Some people do, but studies show that most do not. However, we do have data to show that most people have side-effects that are not trivial. Some opioid side-effects include worsening pain, escalating opioid doses due to increased pain sensitivity or tolerance to the medication, altered hormones, constipation, and sometimes -- fatal overdose.

The problem is, we do not have national systems in place to treat chronic pain otherwise. This is the larger Catch-22 that simply must be addressed. It's time for national governments to put their money where their mouth is and to focus on major pain research initiatives and comprehensive treatment programs that will allow us to treat pain better.

We know that opioids alone are also not a great chronic pain treatment strategy. Studies show that patients improve with combined treatment that includes gradually becoming more active, while also using other key self-management skills. All physical pain is processed in the nervous system (brain and spinal cord). People with chronic pain can regularly use simple skills to dampen pain processing in their own nervous system. They can reduce their own suffering, pain and need and use of opioids.

Will it cure pain? No. Will it help reduce need for medication? Often, yes. Will it reduce suffering?

Absolutely.

As a pain psychologist, I share patients' concerns about limiting opioids without providing access to alternatives. In and of itself, limiting opioids is not a pain care plan. Canada and the U.S. are now tasked with rapidly providing its citizens with access to opioid alternatives for chronic pain.

Ethical pain care should emphasize first the programs and initiatives that empower individuals to best control their own pain. When people are equipped to help themselves feel better, they need fewer doctors and treatments.

Excellent chronic pain self-management programs exist. It's time we subsidize patient empowerment programs; doing so will give physicians and other prescribers the resources needed to treat chronic pain better.

http://www.huffingtonpost.ca/beth-darnall/opioids-limit_b_10374856.html

Small Fibre Neuropathy Whats That

Today's post from countingmyspoons.com (see link below) is a very sensible and probing discussion of small fibre neuropathy and its relationship to fibromyalgia. It's written by a fibromyalgia patient who's also been told that she has small fibre neuropathy and this is a source of confusion for many patients, whose diagnosis is often both vague and unsatisfactory. Doctors often avoid lengthy explanations because they feel that the patients just won't understand the theory, which is a little demeaning to say the least. Maybe the point is that it doesn't really matter in the end what sort of nerve damage you have - the symptoms are very recognisable to most neuropathy patients and the important thing is treating those symptoms and learning to live with the disease. Nevertheless, this is a very good article and well worth a read.

What is Small Fiber Neuropathy
February 27, 2015 By Julie 

In the last few years we’ve seen many articles about the overlap of small fiber neuropathy (or small fiber polyneuropathy – same thing) in Fibromyalgia and the hope that we may be able to use skin biopsies of these small fiber nerves to diagnose Fibromyalgia. I’ll be honest I thought for a while we were just seeing the same study popping back up in the news (and it frustrated me); however, I’ve realized I was wrong. There have actually been a couple of studies in as many years that have made this connection. That said all of the studies I’ve read have been very small (less than 30 participants), and they are not finding that all of the Fibromyalgia patients have this (only about 50% of those in the studies). However, these studies may be a stepping stone to uncovering one potential cause for the pain associated with Fibromyalgia.

But, what is Small Fiber Neuropathy?

Small Fiber Polyneuropathy (SFPN) is a disease (yes, an actual disease) that cause degeneration in the small fiber neurons. The small fiber nerves are the ones that transmit the information about pain and temperature. These small fibers are also involved in many areas of the autonomic nervous system (the part that controls the automatic features like breathing, digestion, blood flow), so it’s a little more than just burning and itching in the feet.

Small Fiber Neuropathy is more than just burning and itching hands and feet.

Unlike problems in the large nerves small fiber neuropathies don’t show up in EMG and nerve conduction studies. SFPN is most commonly associated with diabetes, but can be caused by a variety of other diseases and illnesses, and can even be genetic. A skin biopsy is the primary way of diagnosing SFPN. Unfortunately, diagnosis of SFPN doesn’t do much for those of us with Fibromyalgia except perhaps make us feel like we have a better diagnosis than just Fibromyalgia. The treatments for SFPN are basically the same ones that we already use for Fibromyalgia (anti-depressants, anti-convulsants, topical pain treatments, gabapentin, and tramadol to name a few.

What are the symptoms of Small Fiber Neuropathy?
 
Painful burning/ itching feeling in the hands and feet – this seemsto be the primary symptom
Often worse at night and/or made worse with heat or cold – often people can’t stand to have the sheets touching their feet.
Alcohol can also increase this symptom
Digestive symptoms including diarrhea, constipation, nausea, vomiting
Urinary incontinence
Periods of increased heartbeat
Dry eyes/ mouth
Abnormal sweating
orthostatic hypotension
erectile dysfunction
Skin changes in affected areas

Interestingly, I have pretty much all of the symptoms listed, and so many of these are symptoms we often attribute to “just Fibro”. My diagnosis journey began with burning and tingling in my hands, a variety of tests turned up nothing. I’ve often had a burning in my feet (and they get red and puffy) if I do much walking but I just wrote it off as the effects of walking too much in poorly fitted shoes. Then in December I noticed that I was waking up with this extreme burning in my feet. They would feel like they were burning but also as if they were extremely dry, even if I’d put lotion on them just before I went to sleep. To feel my feet the skin didn’t feel dry to the touch, but that’s the sensation that was being transmitted to my brain (along with the severe burning). I noticed that more and more often they were also very red and puffy looking. After doing some research I found that this is a (rare) side effect of the medication I was on for migraines (Verapamil) and when I told my neurologist about the symptoms he had me stop the med. The symptoms did decrease after about a month off of Verapamil but they haven’t completely disappeared. I think they were there all along I just hadn’t really connected them. I have noticed that the tingling in my hands and the burning in my feet are much worse on nights when I’ve been drinking. I would never have thought to connect the other issues like the urinary and digestive issues had I not read it for myself in the NIH documentation.

Do you also have painful tingling and burning in your hands and feet? How many of the other symptoms do you have?

Further reading: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086960/

http://countingmyspoons.com/2015/02/small-fiber-neuropathy/

Hereditary Neuropathy Whats That

Today's post from ghr.nlm.nih.gov (see link below) looks at a rare form of neuropathy (1 or 2 in 100,000) that still shares the same symptoms as most other forms. If you Google neuropathy you may well come across several articles about hereditary neuropathy and may start to wonder if that's what you have. This article helps to clear up why it's most likely that your form of neuropathy stems from another source. Basically, hereditary neuropathy happens as a result of an inherited genetic abnormality but the problems you may face from the diagnosis on, are much the same as most people having to live with the disease and what's important is how those symptoms are treated to reduce their impact on your life.
 

What is hereditary sensory neuropathy type IA?
Reviewed March 2015

Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance.

Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb.

Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood.

The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.

How common is hereditary sensory neuropathy type IA?

Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals. 

What genes are related to hereditary sensory neuropathy type IA?

Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions.

SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.

Read more about the SPTLC1 gene. 

How do people inherit hereditary sensory neuropathy type IA?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition. 

Where can I find information about diagnosis or management of hereditary sensory neuropathy type IA?

These resources address the diagnosis or management of hereditary sensory neuropathy type IA and may include treatment providers.
Gene Review: Hereditary Sensory Neuropathy Type IA
Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1
Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium
The Neuropathy Association: Diagnosing Neuropathy

You might also find information on the diagnosis or management of hereditary sensory neuropathy type IA in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about hereditary sensory neuropathy type IA?

You may find the following resources about hereditary sensory neuropathy type IA helpful. These materials are written for the general public.
MedlinePlus - Health information
Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases
Additional NIH Resources - National Institutes of Health
National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet

Educational resources - Information pages (9 links)

Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary

Genetic Testing Registry - Repository of genetic test information (1 link)
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog 

What other names do people use for hereditary sensory neuropathy type IA?

autosomal dominant hereditary sensory radicular neuropathy, type 1A
hereditary sensory and autonomic neuropathy, type IA
HSAN1A
HSAN IA
HSN1A
HSN IA

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about hereditary sensory neuropathy type IA?

Ask the Genetic and Rare Diseases Information Center. 

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will have the condition?
Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.
Genetics and Health
Resources for Patients and Families
Resources for Health Professionals

http://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-ia

Common Signs That You May Have Nerve Damage

Today's post from prevention.com (see link below) is a good one to start the new year for people experiencing strange, new symptoms that they can't explain. It's a good reference to use before going to your doctor because if you're suffering from these physical symptoms, then at least you'll have a pretty good idea that they're nerve related and possibly evidence of nerve damage...or neuropathy. What's most useful about this list of symptoms is that it doesn't just concentrate on the most commonly known pain, tingling or numbness in the feet but also looks at a wide range of symptoms which indicate 'autonomic' neuropathy. Autonomic neuropathy is where nerve damage has affected some or all of the involuntary functions of the body we take for granted (such as breathing, digestion, sexual performance, and many others and can be a source of great confusion for both patients and doctors alike, who assume those symptoms indicate other conditions. With over 100 sorts of neuropathy and over 100 causes, it remains one of the most frustrating and life-changing ailments, so this list is a place from which to begin your questions and research, even before going to see the doctor. No reason to panic but a little knowledge goes a long way when faced with a new medical problem!

8 Signs You Might Have Nerve Damage
By Crystal Harlan November 7, 2016
 


Sebastian Kaulitzki/Shutterstock

There are tens of thousands of nerves in your body. Most of them, your peripheral nerves, are like branches of a tree that spread out all over and transmit messages back to the "trunk"—your brain and spinal cord. When everything goes smoothly, your brain gets the info it needs so that you can move your muscles, recognize pain, and keep your internal organs working properly. But when peripheral nerves get damaged, it's another story: Walking could become challenging, you might experience unrelenting pain, or you could end up with a serious injury because you had no idea how hot that stove was.

An estimated 20 million Americans suffer from peripheral nerve damage, aka neuropathy, according to the National Institute of Neurological Disorders and Stroke. "Diabetes is the No. 1 cause. Bad luck [meaning you inherited an anatomical defect] is number two. Repetitive motion and Lyme disease follow," says Andrew Elkwood, MD, a surgeon who specializes in nerve reconstruction at The Institute for Advanced Reconstruction in New York and New Jersey.

Other causes include aging, vitamin deficiencies, exposure to toxins (including alcohol and cancer medications), and infections and autoimmune disorders like hepatitis C, diphtheria, HIV, Epstein-Barr, rheumatoid arthritis, and Guillain-Barré Syndrome. Meanwhile, about 30% of neuropathy cases are "idiopathic," meaning there's no known cause.

The good news is that nerve damage generally develops slowly, says Isha Gupta, MD, a neurologist at IGEA Brain and Spine in New York and New Jersey. That means you might be able to treat it before it worsens—but getting the right diagnosis isn't always easy. Your best shot? See a doctor right away if you have any of the following symptoms. (Make 2017 YOUR year by taking charge of your health and jump-starting your weight loss with the Prevention calendar and health planner!)


You have numbness, tingling, or burning.

1/8 memorisz/Shutterstock

You have numbness, tingling, or burning.


This sensation may radiate from your hands or feet into your arms or legs. "Compression of sensory nerves (often while sleeping) is relatively common, and symptoms such as numbness or tingling can be temporary," says Gupta. But if the pins-and-needles feeling doesn't go away, get it checked out.

It's difficult or impossible to move part of your body.

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It's difficult or impossible to move part of your body.


"If motor nerves are affected, then weakness or even paralysis may occur," says R. Glenn Smith, MD, PhD, a neurologist at Houston Methodist. These same symptoms could also indicate that there's an underlying issue that needs urgent attention, so it's best to head to the ER. If it turns out that you're actually having a stroke, you'll need medical attention ASAP.

You have pain running down just one leg.

3/8 Sebastian Kaulitzki/Shutterstock

You have pain running down just one leg.


A constant sharp pain, burning, or tingling that starts in the lower back and travels down the back of your leg could mean that you have sciatica—meaning that your sciatic nerve has become compressed, perhaps thanks to a slipped or worn down disc in your spine.

 You're way clumsier than usual.

4/8 jiw ingka/Shutterstock

You're way clumsier than usual.


Suddenly stumbling and falling a lot? "If large nerves affecting sensation are damaged, then lack of coordination and failure to sense position of the body can lead to falls," says Smith. It might also turn out that you have a condition like Parkinson's, in which the nerve cells in your brain have become damaged.

You're running to the bathroom all the time.

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You're running to the bathroom all the time.


Damaged nerves can send your bladder faulty messages, so you feel like you have to pee a lot or have trouble making it to the restroom in time. You have a higher than average risk of this problem if you gave birth to a child vaginally or have diabetes.

You get brief, intense headaches that feel like electric shocks.

6/8 andrei simonenko/Shutterstock

You get brief, intense headaches that feel like electric shocks.


You may have something called occipital neuralgia, a condition that can occur when a nerve in your neck gets pinched. You may need a nerve block—an injection that temporarily blocks the troublesome nerve from transmitting pain signals.

You're sweating too much or too little.

7/8 werayuth tes/Shutterstock

You're sweating too much or too little.


It might be a sign that the nerves carrying info from your brain to your sweat glands have become compromised. Your doctor might order tests to measure your sweating and heart rate.


You got injured because you didn't feel something you should have.

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You got injured because you didn't feel something you should have.

Sensory nerves are supposed to tell your brain that a surface is dangerous in some way, and if they're not doing their job properly you could seem more accident-prone. If you have burns, cuts, or other trauma because you didn't realize that you were touching something hot, sharp, or otherwise uncomfortable, see your doc, says Smith.

http://www.prevention.com/health/8-signs-you-might-have-nerve-damage/slide/8

Strange Things That Happen To Ageing Feet

Today's post from prevention.com (see link below) is not directly related to neuropathy but is very useful to people having to live with nerve damage in their feet, in that it brings in to perspective what might happen to your feet anyway as you get older. After reading this, you may have a better understanding of why your feet give you so much pain and other sensations but also of how neuropathy can make normal ageing symptoms so much worse. The article talks about the effects of age on the pads of your feet, tendons and ligaments as well as blood circulation. When the nerves join in the general degeneration, you've got enough reasons for why neuropathy can be so debilitating. Worth a read for all neuropathy patients.

7 Weird Things That Happen To Your Feet As You Get Older
By Cindy Kuzma February 8, 2016

They've carried you everywhere from your first day of school through this morning's walk or run. Pretty much everything else about your body has changed in that time, so it's little wonder that your feet also undergo some alterations, both subtle and not-so-much, as you age. (Use this simple test to find out your arch type.)

Fortunately, taking a few moments to tend to your sole health can minimize age-related issues. "Foot pain and discomfort aren't a natural part of growing older or something to just put up with," says Emanuel Haber, DPM, of the Foot & Ankle Centre of New Jersey. "Much can be done to relieve pain, improve comfort, and prevent small foot problems from becoming major down the road." Here are seven common foot complaints that often arise with age—and how to give them the boot.

1. Fat vanishes.
Mother nature provides humans with built-in insoles—collagen and elastin cushions, stuffed with adipose tissue, on the bottoms of your feet. But in a cruel twist on the middle-age spread, collagen production decreases through the years, thinning these fat pads.

Without this cushioning, "your feet feel fine in the morning, but toward the end of the day you have a lot of pain because you're essentially walking on bones," says Pedro Cosculluela, MD, a foot and ankle specialist at Houston Methodist.

Though some clinics tout injections or fat transplants, there's no proof they work, he notes. The only surefire solution is to wear cushioned, comfortable shoes, reinforced with insoles or gel pads if needed.

2. Arthritis appears.

Photograph by stockdevil/Getty Images

Your feet boast more than 30 joints, all of which can degenerate with age, Cosculluela says. Arthritis most commonly strikes the big toe or the midfoot joints on the top of your foot. Besides pain, you might feel stiffness in the morning that improves once you get moving, then worsens again at night. Shoe inserts, exercises to increase range of motion, and losing weight if you're heavy may help, says Andrew Shapiro, DPM, president of the New York State Podiatric Medical Association.

Hip and knee arthritis also have trickle-down effects, altering your alignment in ways that can cause pain on the insides or outsides of your feet, Cosculluela says. If any of your joints ache, see your doctor—treating hip and knee arthritis with exercise or medications often lightens the load on your feet as well, he notes.

MORE: 11 Highly Effective Solutions For Sciatic Nerve Pain

3. Toes curl up.
And we don't mean in that sexy, between-the-sheets kind of way. Years of stuffing your piggies into high heels elevates your risk of hammertoes, permanent bends in your smaller digits. What can start as mild discomfort turns more painful over time, and unsightly corns and calluses can also crop up as your crooked toes rub against your shoes.

To prevent—and ease—hammertoes, cover corns and calluses with padding and trade in your pointy-toed pumps for shoes with wider toe boxes. "I often have women stand on top of a blank piece of paper barefoot, and trace the outline of their foot," Cosculluela says. "Then I put their shoe on top. If I can see toes sticking out, I know that's not a good shoe for them."

Good news, though: You don't have to ditch your stilettos completely. If you want to wear them for a night out, wear well-fitting flats made of flexible fabric like suede—even walking or running shoes, if you can—during the day. "The more support you can give your feet, the less inflammation you'll incur throughout the day—and the better you'll be able to tolerate a dressier shoe at night," says Gennady Kolodenker, DPM, a podiatrist with Hoag Orthopedic Institute in Orange County, CA.

4. Circulation slows.

Photograph by Matt Meadows/Getty Images

Diabetes, vein disease, and other conditions more common with age can slow the blood flow to your feet, Shapiro says. That makes each cut from stepping on a sharp object or new-shoe blister slower to heal. Combine that with nerve damage—which often goes hand in hand with the same health conditions—and you might not even notice a worsening infection, resulting in an ulcer that just won't heal.

If you have one of these health conditions, enlist a podiatrist on your heath care team. Inspect your feet regularly for cuts and scrapes, and seek treatment for them promptly. Consider installing a floor mirror in your bathroom so you see them more easily, Cosculluela advises.

5. Tendons tighten.
Not as limber in yoga class these days? One reason: The water content in your tendons declines with age, stiffening the cords in your ankles, among other places. Not only can this interfere with Downward Dog, it also places you at greater risk for tears and ruptures, Haber says.

Staying active helps counteract these effects, he notes. (And only takes 10 minutes a day with Fit in 10.) If you've had an Achilles tendon injury in the past, strengthening exercises such as calf raises can prevent relapses. To loosen up tight ankles, you can also try this exercise.

MORE: 6 Simple Moves To Ease Sciatica

6. Ligaments lengthen.

Photograph by tagota/Getty Images

On the flip side, other connective tissues called ligaments can stretch out over time, leaving your arch aching and your foot flatter. What's more, the sensors that typically alert your brain that your ligaments are overstretching—think of them like backup sensors for your joints—start to go on the fritz. This throws you off balance and leaves you prone to a recurring cycle of ankle sprains.

Sprain your ankle once? Consult a podiatrist or other health care professional for advice on preventing the next one. Wearing a brace while working out or playing sports might help keep you stable, as can ankle-strengthening exercises like ankle circles and toe raises.

7. Skin dries out.
Besides cushioning the bottom of your feet, collagen also plumps up your skin. A shrinking supply leaves your tootsies parched and prone to dryness and cracking.

Fight back by making sure you're staying hydrated, and get in the habit of using a moisturizer like Ahava Mineral Foot Cream ($22, ahavaus.com)—and do it twice a day. "Most people don't realize the importance of the frequency; they don't understand why their dry skin is not improving when they apply skin cream every other day or even daily," Haber says.

http://www.prevention.com/health/what-aging-does-to-your-feet

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