HNPP Journal


Rare disease day rolls around again, and this year it is on that very special day in a leap year, 29th February…

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What is peripheral Neuropathy?

Peripheral Neuropathy describes damage to the peripheral nervous system. It effects the information from the brain to the spinal cord therefore the rest of the body. It also can effect the message to the brain like cold feet, finger is burned. It effects the message to your brain kind of like static on a telephone line.

you can experience numbness, tingling, and pricking sensations, sensitivity to touch, or muscle weakness. More severe symptoms can result in burning pain, muscle wasting, paralysis, or organ and gland dysfunction. It can be hard to digest food easily, maintain safe levels of blood pressure, sweat normally, or experience normal sexual function. Breathing can become difficult, or you could have organ failure.

Some forms of neuropathy involve damage to only one nerve and are called mononneuropathies. More often, multiple nerves affecting all limbs are effected-called polyneuropathy. Occasionally, two or more isolated nerves in separate areas of the body are effected-called mononeuritis multiplex.

In acute neuropathies, such as Guillain- Barre syndrome, symptoms appear suddenly, progress rapidly, and resolve slowly as damaged nerves heal. In chronic forms, symptoms begin subtly and progress slowly.  Some people may have periods of relief followed by relapse. Others may reach a plateau stage where symptoms stay the same for many months or years. Some chronic neuropathies worsen over time, but few forms prove fatal unless complicated by other diseases. Occasionally the neuropathy is a symptom of another disorder.

In the most  common forms of polyneuropathy, the nerve fibers most distant from the brain and spinal cord malfunction first. Pain and other symptoms often appear symmetrically, for example, in both feet followed by a gradual progression up both legs. next, the fingers, hands, and arms may become affected, and symptoms can progress into the central part of the body. many people with diabetic neuropathy experience this pattern of ascending nerve damage.

Some of the very earliest studies on HNPP and it’s genetic cause were carried out by Dr. James Lupski. He has many research papers on HMSNs and other genetic disease and peripheral neuropathies.

In this video he describes some of the work he does, and also talks about his own struggle to find the cause of his type of CMT. There is some good inforamtion about Rare diseases and the efforts to promote treatment for them, often these are called Orphan disease.

Youtube Video: DNA sequencing for children with rare diseases Part1

Youtube Video: DNA sequencing for children with rare diseases Part2

Generally speaking the consensus among medical professionals is that Double crush injuries, ie two (or more) nerve entrapment’s along the same peripheral nerve bundle is relatively rare. It has been suggested that some refactory (those not responding to treatment) carpal tunnel injuries may be due to another peripheral nerve entrapment/lesion at a proximal (closer to the spine) location, such as the shoulder or neck.

There is some controversy surrounding this syndrome and some believe that it doesn’t exist. In terms of treatment and the success or failure of it for carpal tunnel in the absence of any other nerve pathology, it may indeed be debatable. But what about the cases where other nerve pathology exist, for example another peripheral neuropathy.

Having been diagnosed with HNPP (Hereditary Neuropathy with liability to Pressure Palsy) it has become fairly obvious to me that such a problem of multiple nerve compressions do exist. With HNPP these compression could be momentary and of fairly short duration but will cause prolonged entrapment-like symptoms. I would have thought that double crush syndrome would be far more common in HNPP than in the general population, simply due to the increased liability.

Part of of the postulation for Double Crush, is that the distal compression, eg Ulnar nerve entrapped at the elbow, appears to be far worse for the contributary factors due to a proximal compression of the same nerve branch, for example a compression at the axilla or the neck at vertebrae C8 and or T1. (Diagram of Brachial plexus and nerve division)

The upper nerve compression (proximal) is likely to have much wider effects than the lower compression (distal), but is it possible that the lower compression can appear much worse due to rather trivial compression at the higher (more proximal) location.  It has been my experience that this does indeed happen in HNPP, and can cause sudden worsening of a lower palsy, i.e. an area of sensation loss with varying degrees of muscle weakness.

Another example from my own experience is that of foot drop and lower leg neuropathic pain, which can worsen considerably when I have problems of the lower back, with sciatica in attendance. Any neuropathic pain seems to be amplified at the distal location during these times as does any sensation loss and muscular weakness.

Perhaps this is more likely to happen as the person with HNPP ages, as the multiple locations of previous palsies begins to take it’s toll. It can make this highly variable condition even more unpredictable and difficult to manage.

Check this great and inspiring video on CMT

CMT Part 2

Here is the second part of the previous video. I hope it helps somebody.

CMT Part 1

Check out this video I found. You might learn from this.