HNPP · Physical Health

Do HNPP sufferers get brain fog?

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You walk into a room, knowing you’re there for a reason, but within moments you’ve forgotten why you’re there. Some sufferers of HNPP claim to suffer from forgetfulness, memory blanks, and being in a haze. I write this completely woozy, the computer screen and mobile phone a complete blur, so it will be less detailed than usual.

“Brain fog” isn’t a medical condition in itself, rather a symptom of an underlying health issue or even a side effect from a medication. It can affect your ability to think and you may feel confused or disorganised or find it hard to focus or put your thoughts into words. It can be fleeting, but for others dealing with multiple chronic conditions, it tends to last longer.

While some individuals with HNPP may face this, it’s still questionable whether it is a direct symptom of this inherited disorder.

Watch HNPP sufferer Jessica Kellgren-Fozard speak about her experiences of brain fog:

Asked if memory problems such as forgetting words or conversations, as well as losing your train of thought are common occurrences with HNPP, Gareth Parry, M.D, appears to disagree.

According to HNPP.info, the Professor and Head, Department of Neurology, University of Minnesota, says: “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.”

“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 J. Parry, M.D

While he doesn’t completely discount it, he adds: “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 [central nervous system] protein.”

Cognitive fog may not be a direct symptom of HNPP, however, a 2013 study reports that some with either a duplication or deletion of the PMP22 gene, which is a fundamental tenet of the condition, had cognitive impairment.

Authors of the report Central Nervous System Abnormalities in Patients with PMP22 Gene Mutations said: “We found a decrease in the volume of WM [white matter] in 70% of patients, a reduced creatine level in WM in 28% and a cognitive impairment in 70%.”

White matter makes up half the human brain and has only recently been linked to cognition, the mental action or process of acquiring knowledge and understanding through thought, experience, and the senses. Research suggests that “white matter tracts mediate the essential connectivity by which human behaviour is organised, working in concert with grey matter to enable the extraordinary repertoire of human cognitive capacities.”

White matter HNPP hereditary neuropathy

Writing in the Journal of Neurology, Neurosurgery, and Psychiatry, researchers of the above 2013 study say that the results showed that 47 per cent of the patients with HNPP and those with CMT1A had “abnormal” levels of white matter volume, creatine level in white matter as well as cognitive testing.

They conclude: “The study demonstrates that altered PMP22 gene expression induces significant CNS alterations in patients with HNPP and CMT1A, including cerebral WM abnormalities and cognitive impairment.”

In the 2013 edition of Nervous System Diseases: New Insights for the Healthcare Professional, reporters from VerticalNews based in Strasbourg, France, reiterates the research, quoting the authors above: “Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited diseases of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot Marie-Tooth 1A (CMT1A) diseases.

“Although mainly expressed in the PNS, PMP22 mRNA and protein are also present in the central nervous system (CNS).”

With only 30 participants tested in total, further research may be required for more definitive results.

What other causes could be a factor?

Medications

Some drugs – either prescribed or over the counter – can cause brain fog. If you take medicine and notice that your thinking isn’t as clear as it should be or you suddenly can’t remember things, it might be worth asking your medical practitioner if there is an alternative or if the side effects will pass.

Chronic Fatigue

An obvious part of feeling ‘foggy’ is dealing with chronic fatigue. With chronic fatigue, your body and mind are tired for a long time. You may feel confused, forgetful, and unable to focus.

Sleep

You need sleep to help your brain work the way it should, but too much can make you feel foggy, too. Aim for 7 to 9 hours.

Blogger Mark from Developing The Human Brain recommends allowing your body to wake up slowly and begin to move slowly. He adds: “Sit up in your bed for at least 12 sec after you wake up for stabilizing your blood flow.”

Dehydration

If you’re even the slightest bit dehydrated, it’s impossible to function at your full capacity. Every single cell in your body needs water, including those in your brain and your muscles. As the brain and heart is made up of 73 per cent water, it is the first organs to show signs of dehydration. Mild dehydration may affect your ability to take on mental tasks and cause you to feel foggy headed, according to a study from the British Journal of Nutrition.

Tips to reduce brain fog
  • Sleep – get enough sleep at night and stick to a reasonable bedtime. Also, find ways to manage mental and emotional stressors, such as conscious breathing or purposeful exercise.
  • Take note – either write down anything you need to do or create reminders and lists. Whether using post-it notes, a notebook, calendars or whatever works for you personally, all of these things help keep a record of what you need to remember.
  • Ask for help – if you have people around you, ask them to remind you of anything important.
  • Mobile apps – there are a whole host of mobile apps that can help you plan ahead including:
    • Cozi – marketed as a “family app”, you can keep everyone’s activities and appointments; as well as create and share shopping lists, chores.
    • MedCoach – medical app that helps you remember to take your medications and pills at the right time and day.
    • Evernote – you can capture, organise, and share notes from anywhere including taking pictures, websites, and making voice notes. It can be synced as well.
    •  Todoist – like Evernote – automatically syncs wherever you log in, which is useful for those moments of clarity when you need to write something down quickly.
  • Vitamin D – increased exposure to sunlight may help you to think more clearly. “The beauty of nature will give your prefrontal cortex – the area of your brain that helps you focus – an opportunity to recharge,” says neurologist Marie Palinski, at Massachusetts General Hospital.
  • Flare-up tool kit – just like with chronic pain, you may need to put everything you need to help you make it through your flare in the same place/in a flare-up tool-kit box.
  • Engage yourself – reading a book, seeing a play, or working a crossword puzzle or word game challenges your mind and stimulates your brain and your memory.  Dr Palinski, also a faculty member at Harvard Medical School and author of Beautiful Brain, Beautiful You says, “When stuck in a rut, we’re constantly treading the same brain pathways. Engaging in a new activity literally wakes up our brains.” That’s because the brain has to lay new neural pathways to process new information. At the same time too much stimulation can be overwhelming.
  • Postpone engagements – when you’re too tired and full of fog to think, put things off until the next day and get extra rest instead. Listen to the needs and signals your body gives. Use the presence of brain fog as a signal to slow down.
  • Manage your environment – move to a quiet place to minimise distractions when you are trying to concentrate. Reducing clutter in your living space helps you to be more organised, and remember where things are. Create a daily routine for yourself. Sticking to a routine may help you remember what tasks you have to do each day, and in what order to do them.
  • Relaxation techniques – relaxing activities such as yoga, tai chi and meditation can improve problems with sleep, fatigue, poor memory and anxiety – all of which are linked to brain fog, according to many studies.

While not everyone suffers from memory issues or general forgetfulness, it’s good to be prepared for any circumstance when you end up in a daze.

Read: When small tasks become daunting with HNPP

HNPP · Physical Health

When HNPP ’causes breathing problems’

Lungs

If you didn’t think it was possible, but some individuals with HNPP claim they suffer from breathing problems due to anomalies with certain nerves. Breathing problems associated with hereditary neuropathy are often ignored because most doctors don’t know they can be part of the disorder.

While hyperventilation is less common, weakness of the thoracic diaphragm, which enables people to breathe, and the nerve linked to it is suggested to cause problems with breathing.

Disclaimer: Please ask your medical practitioner or doctor for more information. This article is based on various research, journals and testimonies.

Why does it happen?

HNPP makes the nerves very susceptible to trauma, which plays a pivotal role when it comes to the act of inhaling and exhaling. There are several major issues that create specific problems:

Hypoglossal Nerve

The hypoglossal nerve is the twelfth paired nerve in the brain. Its name is derived from ancient Greek, ‘hypo‘ meaning under, and ‘glossal’ meaning tongue. The nerve has a purely somatic motor function, innervating the majority of the muscles of the tongue.

According to the 2015 study Disorders of the Lower Cranial Nerves by authors Josef Finsterer and Wolfgang Grisold, the nerve directs not only voluntary activities of the tongue, but also involuntary functions, such as clearing the mouth of saliva by swallowing. They report that some people with HNPP have been reported to have issues with this specific nerve. The authors state: “Another [lower cranial nerve] involved in HNPP is the hypoglossal nerve. The affection of the hypoglossal nerve has been also reported in other types of hereditary neuropathy.”

Gray794

Researchers at the Department of Neurobiology, Tokyo Metropolitan Institute for Neuroscience, say that there is a distinct link between swallowing and breathing. Using six rats, they report: “The XII nerve activity preceding that of the phrenic nerve (pre-I XII nerve activity) was markedly exaggerated during periods when this relation was disrupted”.

The phrenic nerve plays an important role in breathing because the nerve originates in the neck passes down between the lung and heart to reach the diaphragm. It is responsible for controlling the contractions of the diaphragm, which allows the lungs to take in and release air and make us breathe properly. During the above experiment with the rats, the authors say that “nerve activity was also shown to couple with swallowing in the same manner as ‘real’ inspiratory activity.”

You may experience this when your breath arrests for a moment while attempting to swallow, which brings me neatly on to the significance of the phrenic nerve.

Phrenic Nerve

Nerve fibres of the phrenic nerve, spinal nerves, and laryngeus recurrens nerve project to the diaphragm, abdominal, intercostal, and laryngeal muscles. While it is considered “exceptional”, some HNPP sufferers do face these symptoms.

Gray806

In the 2016 report Laryngeal and Phrenic Nerve Involvement in a Patient with Hereditary Neuropathy with Liability to Pressure Palsies, the participant is said to have had vocal cord paralysis as well as “latency of the right phrenic nerve” and reduced right hemi-diaphragm – the muscle that separates the chest cavity from the abdomen and that serves as the main muscle of respiration.

The study suggests that a person with comorbidity, or someone who suffers from several separate illnesses which in this case was chronic obstructive pulmonary disease (COPD), can consequently end up with breathing issues. They also say that this was rectified through COPD treatment. Potential weight loss from HNPP could be a triggering factor.

This video by Professor Mary Reilly from the National Hospital for Neurology in London, UK, explains breathing issues for those suffering from the inherited condition Charcot Marie-Tooth syndrome:

Brachial plexopathy can be an issue withh HNPP sufferers. It is a form of peripheral neuropathy which occurs when there is damage to the brachial plexus, an area on each side of the neck where nerve roots from the spinal cord split into each arm’s nerves. Nerves outside the brachial plexus, extends from the spinal cord, through the cervicoaxillary canal in the neck, over the first rib, and into the armpit.

The phrenic nerve receives stimuli from parts of both the cervical plexus and the brachial plexus of nerves. As Satish Khadilkar and Snehaldatta Khade state in the Official Journal of Indian Academy of Neurology: “Hereditary neuropathy with pressure palsies can present phenotypically like acute brachial plexopathy. But, unlike the classical phenotype, recurrence is unusual.”

Hence damage to this area could potentially weaken signals and cause breathing difficulties.

How likely is it occur?

However, it’s important to note that respiratory issues are more common with the inherited condition Charcot Marie-Tooth syndrome. In a 2016 study including 49 patients with genetically confirmed CMT or HNPP, those with a duplication of the PMP22 gene as well as those with a mutation of the MPZ gene were more likely to face issues with breathing. The HNPP participants were recorded not to have faced respiratory problems.

The authors of Underestimated Associated Features in CMT Neuropathies say that those with the CMT2-I/J (Charcot Marie-Tooth syndrome Type 2) condition had certain mutations in the MPZ gene causing “respiratory insufficiency”, which obviously reiterates the rarity of this occurring when a person suffers from HNPP.

This video, made by CMTA, explains what’s going on in more detail:

The organisation CMT UK has recommended the following, which may be applicable to those with HNPP if you feel that you are suffering from breathing issues.

What to do if you think you’re having breathing difficulties

  • Have your doctor send you to a cardio-pulmonary specialist for a sleep study.
  • Suggest that your maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) be tested both sitting and lying down.
  • If you are having bad morning headaches you could be retaining CO2. The above tests will show that.
  • You can elevate the head (from the waist) of your bed two or three inches by putting bricks under the legs or a suitcase under the mattress.
  • You can keep your weight down.
  • Make sure you have had a pneumonia and flu vaccinations (ask your GP) and treat respiratory infections aggressively.

As mentioned, breathing problems is rather a rare symptom to be associated with HNPP. That being said, there is still a lot of research to be undertaken to establish other symptoms associated with the condition. The main thing is not to hold back and visit your medical practitioner if you feel there may be a problem.

Read: Can HNPP lead to bone-related issues?

HNPP · Physical Health

Can HNPP lead to bone-related issues?

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There appears to be a common trend of patients with HNPP having joint-related issues, which seems to go hand-in-hand with the fact that over-compensation on certain limbs, nerve damage, and issues with the feet eventually leads to problems with bones in general.

From osteoporosis to bone spur, entrapments of the nerves can cause a range of complications. Damage due to bone and joint problems at the elbow can be exacerbated by chronic pressure on the elbow and full elbow flexion and vice versa.

Disclaimer: Please ask your medical practitioner or occupational therapist for more information. This article is based on various research, journals and testimonies.

Why does it happen?

Compression of the nerves is an inability to transmit nerve impulses because compression has damaged nerve fibres either directly, or indirectly by restricting their supply of oxygen.

According to the 2000 study Is Bone a Target-Tissue for the Nervous System?, the authors state that there is strong evidence to suggest that bone can be a “target” of the nervous system.

The authors describe: “it seems reasonable that neural control could also apply to bone tissue, and several clinical and experimental observations support this concept, including Charcot’s neuropathy”.

“The distribution of different nerves during bone formation, combined with the observed effects of transmitters on bone metabolism in vitro, suggest that there is neuroendocrine regulation of bone physiology.”

“Is Bone a Target-Tissue for the Nervous System?” – García-Castellano, J. et al, Nov. 2014

Although there are few nerve fibres in bone, their presence may represent sophisticated and specialised regulatory elements able to deliver time- and site-specific stimuli according to demand.  This suggests that the peripheral nervous system is critically involved in bone metabolism, osteogenesis, and bone remodelling through nerve fibres. Various cells of the musculoskeletal system have receptors for sensory and sympathetic neurotransmitters.

This can be seen in the research Neurogenic Arthropathy and Recurring Fractures with Subclinical Inherited Neuropathy. Neurogenic Arthropathy, common in the hereditary condition Charcot Marie-tooth syndrome, is where due to damaged pain perception and position sense, the bones in the foot can rapidly degenerate. The authors say that patients with neuropathic arthropathy also suffer from recurrent long bone fractures owing to underlying sensory neuropathy.

With fractures, the researchers of the 2000 study for the Iowa Orthopaedic Journal explain: “This difference in healing may imply that in fractures with an abnormal nerve supply the sensory innervation does not recognize anomalous movement of the fracture and, with unstable fixation, nerves may mediate signals that lead to altered bone healing.”

They also suggest that with a neurectomy (surgical removal of all or some of the nerve), bones were less likely to grow back adequately, instead there is a decrease in bone mass.

How can nerves become compressed?

Compression can come from herniated discs in the spine, osteoarthritis can cause bone spurs that can compress a nerve, severe muscle injuries can compress nerves, and even prolonged use of tight clothing such as shoes or skinny jeans. It all depends on the nerve compressed.

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This type of pathology produces pain called radicular pain or nerve root pain leading to pain that may radiate to other parts of the body, such as from the low back down the leg or from the neck down the arm. Leg pain from a pinched nerve is usually described as sciatica.

With a herniated disc most compressed nerves will cause inflammation. This is likely to cause problems when the nerve is squashed between the disc and an adjacent bone.

What happens with injuries?

Traumatic injuries caused by accidents for example, can cause nerves to be partially or completely severed, crushed, compressed, or stretched, sometimes so forcefully that they are partially or completely detached from the spinal cord. Broken or dislocated bones can exert damaging pressure on neighbouring nerves, and slipped disks between vertebrae can compress nerve fibres where they emerge from the spinal cord.

What are the different types of musculoskeletal pain?

Musculoskeletal pain has varying symptoms and causes. Some of the more common types of pain include:

  • Bone pain: This is usually deep, penetrating, or dull. It most commonly results from injury. It is important to be sure that the pain is not related to a fracture or tumour.
  • Muscle pain: This is often less intense than bone pain, but it can still be debilitating. Muscle pain can be caused by an injury, an autoimmune reaction, loss of blood flow to the muscle, infection, or a tumour. The pain can also include muscle spasms and cramps.
  • Tendon and ligament pain: Pains in the tendons or ligaments are often caused by injuries, including sprains. This type of musculoskeletal pain often becomes worse when the affected area is stretched or moved.
  • Fibromyalgia: This is a condition that may cause pain in the muscles, tendons, or ligaments. The pain is usually in multiple locations and can be difficult to describe. Fibromyalgia is usually accompanied by other symptoms.
  • Joint pain: Joint injuries and diseases usually produce a stiff, aching, “arthritic” pain. The pain may range from mild to severe and worsens when moving the joint. The joints may also swell. Joint inflammation (arthritis) is a common cause of pain.
  • “Tunnel” syndromes: This refers to musculoskeletal disorders that cause pain due to nerve compression. The disorders include carpal tunnel syndrome, cubital tunnel syndrome, and tarsal tunnel syndrome. The pain tends to spread along the path supplied by the nerve and may feel like burning. These disorders are often caused by overuse.

How is musculoskeletal pain diagnosed?

Your doctor will begin by conducting a thorough medical history. They will then look for possible causes of your pain, and will also ask if the pain is ongoing or acute.

The doctor will then conduct a hands-on examination looking for the source of the pain. This may include palpating the affected area. This helps him or her locate the origin of the pain. However, to determine the underlying cause of the pain, the doctor will often follow the exam with laboratory tests and X-rays.

How is musculoskeletal pain treated?

Different types of physical therapy, or mobilisation, can be used to treat people with spinal alignment problems.

Medications such as nonsteroidal anti-inflammatories (NSAIDs) may be used to treat inflammation or pain.

In patients with musculoskeletal disorders such as fibromyalgia, medications to increase the body’s level of serotonin and norepinephrine (neurotransmitters that modulate sleep, pain, and immune system function) may be prescribed in low doses.

As if HNPP is not enough to deal with, it seems that there is a corresponding issue of joint problems. In this case, you may have to be extra careful with certain activities that may aggravate both issues, such as walking where it may not only cause numbness in the legs, but actual pain on the bone itself. Keeping vigilant is going to be absolutely vital as a result.

Read: Coping with multiple conditions including HNPP

HNPP · Medication · Physical Health

Coping with multiple conditions including HNPP

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Many people living with HNPP have the arduous task of coping with more than one condition on top of the neuropathic symptoms. From dystonia and asthma to peripheral oedema, or mental health conditions, those with HNPP battle a range of conditions. So how do you deal with multiple diagnoses?

Coping with multiple issues can be a bit overwhelming, and it adds a layer of challenge that might not be present for the friend of a friend who has one of your illnesses in common, but runs 5k races.

“In people with multiple chronic conditions, physical and emotional symptoms can compound and build off of each other, resulting in a larger negative effect on their daily lives.”

“Challenges of self-management when living with multiple chronic conditions”, Clare Liddy, 2014

More than one in four Americans have multiple (two or more) concurrent chronic conditions (MCC), according to the U.S. Department of Health & Human Services. As a result, people with several different illnesses tend to have poorer day-to-day functioning. In England, UK, the figure is said to be about 2.9 million people with multiple long-term conditions and the number is thought to be rising.

A 2012 study in the British Medical Journal says that doctors are still unprepared with dealing with ‘multimorbidity’ – that is, the coexistence of multiple chronic diseases and medical conditions in one individual. The authors say: “Despite the increasing numbers of patients with multimorbidity, evidence on the effectiveness of interventions to improve outcomes in such patients is limited.

“The clinical care of these patients is complex and the evidence base for managing chronic conditions is based largely on trials of interventions for single conditions, which too often exclude patients with multimorbidity.”

The impact of multimorbidity

And research shows that multimorbidity has an additional impact on those individuals including emotional challenges of dealing with a group of chronic conditions. Clare Liddy, MD, an Associate Professor in the Department of Family Medicine at the University of Ottawa in Ontario, says “In people with multiple chronic conditions, physical and emotional symptoms can compound and build off of each other, resulting in a larger negative effect on their daily lives.

“These symptoms are interdependent and symptoms of one condition can be aggravated by the symptoms, treatment, or medications of another condition. Some symptoms might overshadow others and reduce the patient’s ability to manage his or her care.”

Liddy suggests ‘re-prioritising’ to learn to cope with the negative effects of the various illnesses.

  • Changing cognitive approaches – patients with multiple conditions found that changing their thinking or conscious mental processes had a positive effect on them. Living with multiple chronic conditions became a way of life for some people, who reported fluctuating between “living a life and living an illness.” Liddy notes the current changes in those with multimorbidity:
    • reframing and regulating the amount of attention given to their situation
    • engaging in life and body listening
    • relinquishing control to another source – faith and doctors seem to be heavily relied upon
    • changing their beliefs (for example assigning new meanings to daily chores or activities)
    • self-monitoring – keeping an eye for any changes
    • self-advocacy – approaching and asking for help whenever necessary.

Other important tasks to note include:

  • Social support – an important part of dealing with comorbidity is to have a support network of some sort. However, if you have the incorrect kind of support, friends and family may become a barrier to self-management, and they may end up interfering where unnecessary. The key is to create clear-cut boundaries and let them know how and when they can help you. Group activities such as walking have been shown to help with psychological issues, such as loneliness and depression. Joining a support group can also help.
  • Read about your condition extensively – the better equipped you will be when approaching your healthcare providers if you know what to expect. At times, you may find practitioners giving you contradictory information. Note it down, and then approach them carefully with what you have observed.
  • Multiple care approach – you may detect that some medical practitioners are still not completely skilled at dealing with multiple conditions, they may prioritise one condition over the other, so it’s important to keep that in mind and see that they can also deal with the other issue(s) in a similar manner. The best chance of this is to have a multidisciplinary team working with your needs.
  • Organise your medication – if you have lots of medicines to take, it can be hard to keep track. Some people find a dosette box or pill organiser (a plastic box which is separated into different compartments for each day and each time of day) helpful. You can get these from pharmacies or buy them online. Usually you would fill these once a week – ask someone to help you if necessary. Or you could try making a daily chart to show when you should take each medication. Or you could label your medication containers with the time you should take them, or keep medication where you are likely to take it at the time – for example, put breakfast tablets in the kitchen, and bed time pills on your bedside table. If you can’t manage with taking 18 tablets a day, it may be worth revisiting your doctor and being honest about it.
  • Take it day-to-day – this means prioritising your needs on any given day, for example, if you feel more tired due to one of your illnesses, then rest, or if you’re feeling depressed more so than usual, then address those needs first.

It’s unbelievably difficult to cope with one let alone several chronic illnesses. And it’s exacerbated by the fact that doctors are only just coming to see how big an impact this is having on society as a whole. However, thinking of it as a list of things to keep crossing off, over time with good care, more coping skills, better management of medication changes, surgeries and therapies, it will seem that tiny bit easier.

HNPP · Physical Health

Why do some HNPP results appear negative?

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Genetic testing for HNPP can be daunting, mostly because it can be a confirmation of all your worst fears. At the same time, it can come as a relief for many, as it marks the start of an official journey. But what happens when your results turn up negative?

As the NHS website explains, we need two peripheral myelin protein-22 (PMP22) genes, one from each parent, for the normal development of the peripheral nerves. These genes provide instructions for the creation of PMP22 protein, which makes up the protective outer layer of each nerve. This outer layer, which is a bit like the plastic coating that insulates a wire, is called myelin.

“It would have been nice to feel the immediate gratification of a positive HNPP test result. It would have answered nearly every question I had about what was happening to my body.”

From the Girl With A Purple Cane blog

In HNPP, one copy of the PMP22 gene is lost (deleted) so that people have only one copy of this gene. A person with HNPP will have inherited a faulty copy of the PMP22 gene from one of their parents.

With only one normal PMP22 gene, their myelin is fragile and more susceptible to injury. Just the slightest pressure, stretch or repetitive movement on the nerve causes sections of the myelin to be lost. Signals cannot be relayed to and from the muscles properly.

A genetic test usually confirms whether one of the copies is deleted. Around 80 per cent  of cases of HNPP is down to deletions of this particular gene. However, in some cases even with a genetic test, it can come back negative.

According to DNA diagnostic experts GeneDx, genetic diagnosis is identified in approximately 50-70 per cent of individuals with the hereditary neuropathic condition Charcot-Marie-Tooth disease, which shows that even if the symptoms present themselves, they may not be explicitly diagnosed for all.

This was seen in a 2006 study where a 32-year-old woman diagnosed with CMT, where the PMP22 genes are duplicated, came back with a false negative even though she had two different types of gene mutations.

gene testing HNPP hereditary neuropathy
Algorithm for Peripheral Neuropathy testing – GeneDx

What happens if the results are positive?

A positive result indicates that a disease-causing mutation was identified in the individual who was tested. In this case, you can get predictive genetic testing in terms of planning ahead as well as testing for your family. They can then go ahead for further evaluation. There can be variability in symptoms, age of onset, and disease severity even among members of the same family who have the same genetic mutation.

What if the results are negative?

Even with a negative test result, it does not rule out that a person with neuropathy does not have a genetic condition. As the diagnostic company suggests possible reasons for a negative result could be:

  • The patient has a mutation in a gene not included in the testing panel
  • The patient may have a mutation in a part of a neuropathy gene that was not covered by the test
  • The patient does not have hereditary type of neuropathy

As Sharon Plon, Medical Geneticist and Director of MD-PhD program at Baylor College of Medicine, says:

Unknown results

In some cases, results may not conclusive either way. These results are referred to as variant of unknown clinical significance (VUS). This indicates that the role of the genetic change in causing neuropathies has not clearly been established. In some cases, testing of other family members may help clarify the clinical significance of a VUS.  The greater the number of affected family members who carry the VUS, the greater the likelihood that the identified variant is hereditary.

In other instances, if the person is the only one identified with a single mutation, they may be a heterozygous carrier i.e. they inherit a pair of genes where one is dominant and one is recessive.

Advantages of getting a panel test if negative

  • Higher diagnostic rate
    • all ‘common’ genes in one test
    • the rare genes included/ genes that no diagnostic service is available
    • more patients and families to get a genetic diagnosis
  • Faster turn around time
    • all genes in one test, not sequential testing
  • Familial cases can avoid further clinical investigations
  • Enhance our knowledge and understanding for IPN genes (Enrich for fragments of interest)
    • routine testing of rare genes
    • interaction between genes/ modifying mutations
  • Cost savings
    • directly: panel testing is cost effective
    • indirectly: faster result / high diagnostic rate can lead to reduced
    • appointments and other investigations for patient and family

However, the cost of a genetic test depends on the complexity of the test and can range from under £100 to £1000s, for example a basic chromosome test (karyotype) would cost about £150 and screening a panel of 108 genes associated with congenital cateracts costs £1100. The cost increases if more than one test is necessary or if multiple family members need to be tested. So it can be a hefty investment depending on where you’re getting it done.

The problems with certain gene tests

Either way, as some research states, the CMT1A duplication was identified more frequently than the HNPP deletion, suggesting some types of gene variants are more difficult to detect to than others such as those for HNPP.

The study, Charcot-Marie-Tooth Disease And Related Hereditary Polyneuropathies featured in the Genetics in Medicine journal, says: “HNPP can mimic multifocal neuropathy, a frequently inflammatory disorder that requires immunosuppressant therapy.

“Molecular testing occasionally identifies new sequence variations of unknown pathogenic significance. In these cases further studies (segregation analysis, functional assay) are required to establish pathogenicity, which are performed in research laboratories.”

Hence there is still quite a lot of testing to be done to perfect the current sequencing method. So hopefully it won’t come as a shock if your results turn out to be negative, but be prepared for that eventuality.

HNPP · Physical Health

Is surgery worth it with HNPP?

HNPP hereditary neuropathy surgery carpal tunnel

Carpal tunnel syndrome seems to be a common occurrence with many HNPP sufferers, and the symptoms sometimes overlap when it comes to nerve damage around the wrists. Not to mention, foot issues such as high arches and unstable ankles appear for some with this particular condition. And the obvious question for those newly-diagnosed tends to be can surgery help stop or relieve the symptoms?

Most people with HNPP have attacks of numbness, tingling and muscle weakness in the leg or foot, which can make walking, climbing stairs and driving difficult or impossible, and can result in foot drop – the inability to lift the front part of the foot because of muscle weakness.

While others can simultaneously have weakness in the elbow, wrist or hands, which can result in wrist drop and loss of sensation in the index finger and thumb (symptoms similar to those of carpal tunnel syndrome), making fine movements such as fastening buttons, typing and gripping impossible.

Disclaimer: Please ask your medical practitioner or doctor for more information. This article is based on various research, journals and testimonies.

What is carpal tunnel syndrome?

Carpal tunnel syndrome or CTS is a common condition that causes a tingling sensation, numbness and sometimes pain in the hand and fingers. These sensations usually develop gradually and start off being worse during the night. They tend to affect the thumb, index finger and middle finger.

The symptoms of CTS also tend to develop gradually, and usually start off being worse at night or early in the morning.

Any repetitive actions of the hand or wrist can aggravate the symptoms, as can keeping your arm or hand in the same position for a prolonged period of time.

Symptoms include:

  • A dull ache and discomfort in the hand, forearm or upper arm
  • A burning, prickling sensation (paraesthesia) in the hand similar to pins and needles
  • Dry skin, swelling or changes in the skin colour of the hand becoming less sensitive to touch (hypoaesthesia)
  • Weakness and wasting away (atrophy) of the muscles at the base of the thumb
  • Pain may spread from your hand up to your forearm and elbow.

CTS ends up becoming a symptom of HNPP, as muscle strain isn’t the cause, rather nerve issues present itself in the form of carpal tunnel syndrome.

Will CTS surgery help?

The problem with getting surgery for CTS is that it may relieve symptoms in the short term, but evidence suggests that it is likely to return after a period of time. A study for The Musculoskeletal Journal of Hospital for Special Surgery presented a 38-year-old HNPP sufferer with complaints of numbness in the first three digits of both hands and weakness of both hands after doing yoga. She was seen by a hand surgeon after wrist splints and anti-inflammatories had no benefit.

“The doctor told me I would have instant relief, which I did. My recovery time about 3 weeks. Disadvantages: I lost 30% strength in my right hand.”

Case from Inspire Forum for Charcot-Marie Tooth

Ten weeks after the diagnosis, she underwent carpal tunnel and Guyon’s canal (surgery to decompress the ulnar nerve) releases, which yielded significant improvement in symptoms within a week. However, after several years, the symptoms returned and instead her hand was left permanently weakened by the surgery.

The authors of the report conclude: “Typically, carpal tunnel release is of little benefit, and ulnar nerve transposition at the elbow may worsen symptoms.

“However, in cases with severe symptoms, debility, and/or deformity, surgical intervention should be considered on an individual basis and in this patient appears to have been beneficial.”

Carpal_tunnel_splint

This shows that surgery should be undertaken on a case by case basis. So you really need to weigh up your options, as it may relieve pain now, but create issues at a later stage.

Another case study featured in the report Is Carpal Tunnel Warranted for HNPP? also warned about having multiple surgeries. Authors Nicholas Earle and Douglas W. Zochodne conducted extensive research on the role of carpal tunnel decompression surgery for those with HNPP.

“[We] do not recommend multiple decompression procedures in an attempt to modify the natural history of HNPP.”

Is carpal tunnel decompression warranted for HNPP?
Nicholas Earle and Douglas W. Zochodne 2013

Two patients with HNPP underwent nerve decompression and surgery for CTS. Despite seeing some improvements, there were issues during surgery for one of the patients in terms of symptoms of HNPP posing itself.

The authors state that even though carpal tunnel decompression could be offered to patients who have “appropriate, persistent, and significant symptoms”, they add: “we do not recommend multiple decompression procedures in an attempt to modify the natural history of HNPP”.

Surgery for anyone increases the risk of nerve damage, from lying still. Individuals with HNPP are at a much greater risk. Nevertheless, knowing about the susceptibility to pressure palsies can help the surgical team avoid causing them by positioning you to avoid pressure palsies.

Correcting foot deformities

I do feel uncomfortable with the word ‘deformity’ but I’ll use this to describe the next lot of symptoms.

It is more common for those with hereditary neuropathies such as Charcot Marie-Tooth disorder, to undergo operations to correct the positioning of a foot. Clawed toes can be straightened, high arched feet can be flattened, and unstable ankles can be tightened.

Blausen_0411_FootAnatomy

For some people with HNPP, the toes begin to claw, causing pain on the ball of the foot, which develops as the deformity places downward pressure on the heads of the metatarsal bone and the protective fat pad beneath them is pulled away by the upturning toes.

Walking becomes painful and wearing shoes becomes difficult, hence many wear cushioned orthotics and special insoles to help alleviate symptoms. Over time, the deformity becomes fixed and conservative treatment no longer helps.

Foot drop, however, is more frequent as Glenn Pfeffer, MD, is the Director of the Foot and Ankle Center at Cedars-Sinai Medical Center reports. In an interview to the Hereditary Neuropathy Foundation, Dr Pfeffer says the muscles that lift up the foot and ankle weakens due to motor nerve issues, eventually causing the foot to drop. While it isn’t a long term solution, the doctor says surgery for patients with CMT and foot drop has “made great advances in the past decade”. But he only recommends surgery after conservative measures such as stretches, physiotherapy, as well as orthotics no longer work.

On a CMT UK forum on Health Unlocked, one person had undergone surgery for foot drop, consisting of four operations and then two subsequent procedures. The online user said: “Weigh up how much of handicap it is now, how much does it hurt and ask your surgeon about the long term future of your foot.”

While others have had more positive outcomes, with another netizen, who had high arches corrected, saying: “Was so incredible. It was life changing for me.”

Either way, whatever you choose to do, it’s important to also remember to provide your medical practitioner, surgeons, nurses and anyone involved with details of your condition, as you may need to have special positioning during surgery.

During surgery

In the Journal of Association of Anaesthetists of Great Britain and Ireland, a case of a woman with HNPP, who underwent a biopsy under general anaesthesia, was left with weakness and decreased sensation of her left arm due to incorrect positioning.

The study added that approximately 16 per cent of all anaesthesia-related claims in the United States was down to peripheral nerve injuries. The ulnar nerve is damaged most commonly (0.33 per cent of general anaesthetics); this is three times as common as injury to other nerves. Hence it is essential that you let your medical team know about your condition well in advance.

In the end, it is your choice if you want to go ahead with surgery, but the more knowledge you have beforehand on what to expect, the better the decision you will make and the outcome will be.

HNPP · Mental Health · Physical Health

Dealing with genetic testing with HNPP

dna-163466_1280

Getting genetically tested can be traumatic depending on the outcome, but for many it is a necessity. The uncertainty of not knowing for either yourself or your family can be a harrowing experience, but what comes next may appear to be more difficult. However, a diagnosis for HNPP can help explain how conditions are inherited, in order to help draw up medical management plans and discuss further family planning options.

“There are no right answers, there are simply decisions.”

Asked on the Inspire Forum for Inherited Neuropathy

The psychological effect of a genetic disorder can vary by the nature of the condition and the relationship of a person to the affected individual. Every family is different and it is difficult to predict how people will react to a genetic diagnosis. It’s helpful to think in advance about some of the possible reactions, though, so you can react quickly and minimise distress.

Disclaimer: Please ask your medical practitioner or doctor for more information. This article is based on various research, journals and testimonies.

The following information has been taken from Understanding Genetics: A New England Guide for Patients and Health Professionals:

Patients

A genetic diagnosis can be a great relief to the person suffering from the condition.  It helps HNPP sufferers understand their disorder, especially when the condition is rare and the patient has struggled to find a diagnosis. Patients often spend years living with a condition without knowing its name or cause. Diagnoses usually lead to improved treatment options and access to support services. They can also help other family members make decisions about their own lives.

However, a genetic diagnosis may lead to negative reactions, too. The science of genetics can be confusing, and sufferers are often frustrated until they understand the nature of their condition. Anyone identified with a mutation may consider themselves at fault or interpret their diagnoses as leading to something they cannot fight. A genetic diagnosis can lead to fears about insurance and employment discrimination.

The reaction to a diagnosis varies from individual to individual.

Parents

Understandably, the diagnosis of a genetic condition may put stress on a relationship. Couples with an affected child often face difficult family planning decisions because future children may be at higher risk. Depending on the condition, parents may also be faced with hard choices regarding prenatal testing. It can also put a strain on relationships some times causing a communication breakdown. The magnitude of these decisions and their outcomes has an impact on the individuals involved and on their relationship.

Family 

Unaffected family members should not be forgotten in the case of a genetic disorder. When one family member is diagnosed with a mutation, family members who do not have the mutation often feel guilt that loved ones are affected when they are not.

“When my daughter was in junior high, she told me that if it’s hereditary, it was my responsibility to figure it out. I’ve had various inconclusive genetic tests but am hopeful this next one will pinpoint it. The info won’t affect me in any way, but maybe generations from now, it could be life-changing.”

Asked on the Inspire Forum for Inherited Neuropathy

Siblings of children with special needs sometimes feel neglected because parents need to focus more time and effort on their siblings. Including unaffected family members in the planning of care for individuals with genetic conditions can help them come to grips with their own emotional issues.

Adults who are diagnosed with a genetic condition and are considering having a child will need to consider the risk of having an affected child as well as their ability to care for the child.

Myelinated_neuron

Genetic test results are often complex and may be difficult for patients and their families to understand. In some cases, a genetic test may reveal the risk status of other family members who may not wish to know this information, potentially encroaching upon their autonomy or privacy.

In general, support or advocacy groups and community resources can provide ongoing support to patients and their families with genetic conditions. Support groups provide a forum for sharing experiences about caring for a family member affected with a genetic condition, coping with a new diagnosis, obtaining healthcare or other services, and healing. Members of support groups know first-hand what it means to be faced with a diagnosis and to need accurate, up-to-date information. Staying connected with their community helps individuals fight the feelings of isolation that often surround families living with a genetic condition.

That being said, knowing what to expect during the testing process can help to prepare for what’s to come.

How to prepare for a genetic appointment

There are several things it is helpful to consider and find out before your genetic appointment, these include:

  • Take questions with you – Thinking through your concerns and queries in advance and writing them down to take with you
  • Check where the appointment will be – Genetic centres can be based in clinics across different hospitals so double-check with your hospital
  • Give details of other family member’s genetic diagnosis – If another member of your family has previously been seen in the genetic clinic, please let the clinic know their name and date of birth before your appointment. This will help them link the family information and will save time at your appointment.
  • Gather as much information about your family history – You are likely to be asked for this in your appointment. Clinics usually only ask about your family history as far back as grandparents.
  • If you want someone else tested who isn’t present – If your concern is about a genetic diagnosis affecting another member of the family, the clinic will need to get confirmation of the diagnosis. You may be asked to pass a consent form to your relative before your appointment.
  • Ask for help if you need additional assistance – It is very helpful to let the clinic know in advance.

What does an appointment involve and what happens after?

  • You will be seen by a clinical geneticist or a genetic counsellor, or both, depending on the reason you have been referred.
  •  Your medical and family history will be taken.
  • If needed, you/your child will be examined by the doctor.
  • Where a diagnosis is known, you will be provided with information about the condition including an explanation of how it is inherited and what this may mean for you and other members of your family.
  • Options around genetic testing and family planning will be discussed if appropriate.
  • Support will be offered around decisions that need to be made
  • If genetic testing is available and you wish to go ahead with this, then you may have a blood sample taken.
  • Following your appointment it is likely you will be sent a letter summarising the information discussed.
  • You may only need to attend the clinic once or several appointments may be needed. You will be told at your appointment whether you need to be seen again.
  • If you had a blood sample taken for genetic testing, you should be told when to expect the results and agree a plan for how you will receive these.
  • Some types of results are always given in person in the clinic or by letter.

What next?

  • Genetic counselling – this involves a healthcare professional talking to you about a genetic condition or possible genetic condition affecting you, your child or another member of your family. Another important aspect of genetic counselling is that it provides support with the emotional and family implications of a genetic disorder.
  • Be wary of information you find on the internet – The internet is a powerful tool for diagnosis and support but there is a lot of misinformation out there and some of the things you read might be frightening. Remember, genetic conditions can manifest themselves differently in different people – every one of us is unique.
  • Connect with other people – This is a great way to share advice and support one another.
  • Know your rights – Apart from coping with the emotional and medical issues related to a positive genetic test result, patients are often faced with life-changing decisions, especially when it comes to family planning and thinking about genetic testing for your children. But it’s also important to check where your genetic information is going and how it is being used so ask about it during your appointment.

To find out more information about genetic testing and counselling, here are some organisations that deal with this specifically:

HNPP · Physical Health

Can new technology help HNPP sufferers?

A discussion about how technology needs to advance to fulfil the needs of HNPP sufferers led to me searching about smart new neurotechnology devices available out there. There are some already on the market linking up with apps, morphing into wearables and becoming fully customisable. But do they work?

Quell Wearable Pain Relief

quell pain relief neuropathy HNPP

The first device I came across was Quell Wearable Pain Relief from NeuroMetrix. The US based company claims to be the only FDA approved device that can be worn while sleeping, and says that it can reduce pain at the flick of a switch. It sounds like a dream to those who suffer from chronic pain, who usually end up sounding like a maraca with the amount of drugs having to be taken on a daily basis.

The way it works is that you  strap it to your calf muscle and when the device is activated, and it is said to stimulate nerves in the leg that send signals through to your brain which induce your body to release its own pain blocking chemicals, known as endogenous opioids, which should reduce or eliminate chronic or even temporary pain.

That is a big statement to declare, especially as the creator claims that the device is “FDA cleared, doctor recommended and 100% drug free.” Neuromix also say that 81 per cent of users said they reported an improvement in their chronic pain.

Much like other wearables, the Quell can connect up to a companion smartphone application in order to give the wearer a way to customise their experience and it can potentially even work while they’re asleep, based on customisable preferences.

The difference between a TENS unit and Quell’s device is said to be the fact that it is a wearable intensive nerve stimulation (WINS) unit, which is five times more powerful.

While it is relatively new, meaning there are still not that many consumers reviewing it, it seems that it has begun helping some tweeters:

Pros

  • It can be worn 24/7, even while sleeping
  • It can help relieve some symptoms of pain
  • There’s a customer care number for one-to-one help
  • Easy to set up
  • 60 day money-back guarantee
  • Can be paid in instalments.

Cons

  • You will need a smartphone or tablet, which gives access to an optional app that allows for further individualisation and tracking
  • According to Fed Up With Fatigue, it can take several weeks for chronic pain sufferers to see a difference
  • It won’t relieve all pain, but it should help relieve some of it
  • It is likely to help people differently according to the severity of the symptoms
  • It isn’t cheap at $249 for a starter kit.
  • Quell’s electrodes have to be changed every two weeks
  • Some people may experience a stinging sensation which may need recalibration, as well as headaches
  • Quell’s impact on pain relief seemed to be very treatment-dependent.
TENS Units

Transcutaneous electrical nerve stimulation (TENS) is a non-pharmacological treatment for pain relief. TENS has been used to treat a variety of painful conditions. Clinical trials suggest that adequate dosing, particularly intensity, is critical to obtaining pain relief with TENS. Hence it seems clinical trials continue to support the use of TENS for the treatment of a variety of painful conditions while identifying strategies to increase TENS effectiveness.

Tens

TENS is the application of electrical current through electrodes placed on the skin for pain control. On the normal setting (90-130 Hz), the electrical impulses generated by the unit are believed to block the pain messages being sent to the brain. This belief is based on the “gate theory.”

This theory suggests that the central nervous system has a gate mechanism built into it. When the gate is open, pain signals are able to pass through to the brain and we feel pain as a result. If the gate is closed, the pain messages are effectively blocked and we do not feel any pain.

And while it has shown a difference in terms of pain relief, the effectiveness of TENS on individual pain conditions, such as low back pain, is still controversial. There are lots of over-the-counter units, with many muscle massagers claiming to be one, but the following have been approved by some HNPP’ers.

TENS 7000

When it comes to value for money, TENS 7000 is priced in the lower end of TENS units.

The ever-popular pocket-size device has been around for years, and is most certainly here to stay. The downside is that it isn’t rechargeable.

AccuRelief

The AccuRelief Wireless TENS Electrotherapy Pain Relief has no electrode wires and requires only pushing buttons. It offers 20 levels of intensity adjustment, which may not be enough for some, but it is lightweight.

Cons

  • 30 minute shut off – you’ll need to re-start again if you’d like to continue treatment
  • You’ll have to change the batteries every 2-3 weeks, depending on usage

Most people use TENS machines without experiencing any side effects. The most common side effect is not related to the machine itself, but the self-adhesive pads.

If the pulse is too high or you use the TENS machine too often, the stimulation can cause pain or muscle twitching.

Footbeat

More than $7 million was raised to produce this new kind of footwear. Footbeat is reported to change the method of circulatory enhancement in the lower extremities. The company’s co-founder, Dr. David Mayer, a practising orthopaedic surgeon, says “Footbeat applies precise, cyclic pressure on the bottom of the foot to increase the body’s circulation, improving health and athletic performance.”

The way this rechargeable shoe is supposed to work is that a smart engine in the centre of the insole applies precise, cyclic pressure to the arch of the foot, increasing circulation.

This pump helps apparently plays a role in the venous system, is a transportation network that supplies oxygen and nutrients to your body while also removing metabolic waste.

With Footbeat applying pressure at regular intervals into the arch of the foot, it is reported to create physical benefits. These benefits mimic the benefits people get naturally from increased circulation due to physical activity including increased removal of metabolic waste and increased delivery of important nutrients that help accelerate healing and recovery. The micro-mechanical device can be activated using mobile technology in the form of a remote control. 

It’s still being rolled out so watch this space.

Pros

  • 30 day full replacement guarantee
  • The remote uses Bluetooth low energy (LE) technology that provides a range of six feet while using less power for longer battery life
  • Supposed to massage the feet
  • It claims to speeds active recovery after athletic exertion, helping to prevent soreness and injury.

Cons

  • At $450 for the starter kit, it seems ridiculously expensive
  • Cannot drive with these shoes
  • It isn’t waterproof
  • Takes an hour to charge
  • Keeps charge for only four hours
  • Can’t be worn while walking in water, mud, rain, snow or any outside moisture.

There are plenty more technologies in the developmental stage being produced, which seems exciting for many who struggle daily. But real testing needs to be done on those who have actual symptoms to understand the benefit.

Have you tried any new gadgets?