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Axial Myopathy: A Non-Professional Carries Out Amateur Research

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I’m probably the last person to be writing about this because I don’t claim to be an authority on any particular condition — except perhaps hemochromatosis and the searing reflux suffered when I’ve devoured too much chocolate at bedtime! I have, however, embarked on the study in order to try and help a very dear friend (like me a South African expat now living in Canada) understand how and why she came to have this awful condition. I have decided to do this in two ways: first, as a physician would, I’ll try to construct a case history of all that has befallen her since she was a child. Then I’m going onto the Internet to see what I can find there.

Background and Case History

Evidently she was a very healthy, active child. She tells me that her father, a Latin scholar, had a nickname for her which meant “Happiness” or “Happy.” Her sister, who was 10 years older than she was, would tease her active little sibling, scoffing that this moniker was rather deserved because, like Felix the Cat in the cartoons of the day, she ‘kept on walking!’ which, from all accounts, was a gross understatement. She would always rather run than walk!

Their father died when my friend was six, and her sister, who was really a very loving and caring person, became the chief breadwinner but was not always able to have the young one with her. At one stage in her life, the child, then 11 years old, was left to stay with an aged friend of the family in a little town called Aberdeen, in the dry Karroo area of South Africa, where she was lonely enough to join almost every Sunday School in the place so that she would be entitled to attend picnics — where she would inevitably end up with numerous boxes of handkerchiefs, won for sprinting!

Eighteen months later, after joining her sister in Cape Town, she was enrolled at a good school, where she was an enthusiastic gymnast excelling in “vaulting the horse,” rope-climbing, and running, until one day, about three months later, she began to hobble, and an observant teacher noticed that her young student’s left knee was grossly swollen. A doctor who examined her recommended three months of bed rest, at the end of which she returned to school; but she was hardly there when the other knee began to swell. Other disquieting symptoms prompted the doctor to refer her to an eminent specialist at the famous Groote Schuur Hospital.

Because it was suspected that his patient was suffering from some sort of rheumatic ailment, which might damage her heart if she exerted herself, he recommended that she spend most of the rest of the year in bed, to leave home only when it was time for a follow-up appointment. At the end of that time she was back at the hospital to be fitted for calipers, which fortunately were a restriction that did not have to last too long, although she was not permitted to participate in sport.

It was not until some years later, when her daughter was three, that, lifting the child down from the steps of a bus, her back “seized” and her husband had to be summoned to take the two of them home. Another six weeks of bed rest ensued.

“Exaggerated Lumbar Lordosis”

This became the regular pattern of her life until one day at work when her back again acted up and this time, screaming in agony, she had to be taken to a private clinic where she was fortunate to be examined by probably the foremost orthopaedic surgeon in the county. Her medical reports make mention of “exaggerated lumbar lordosis” (a term used to describe an inward curvature of a portion of the vertebral column.)

From Wikipedia: “Two segments of the vertebral column, namely cervical and lumbar, are normally lordotic; that is, they are set in a curve that has its convexity interiorly (in the front) or posteriorly (behind), in the context of human anatomy. Curvature in the opposite direction is termed kyphosis. Excessive or hyperlordosis is commonly referred to as swayback or saddle back.”

Finally A Diagnosis Of That Particular Problem: Spondylolisthesis

This can be described as the anterior displacement of a vertebra or the vertebral column in relation to the vertebrae below, and in her case it was considered to be due to a congenital birth defect. The best remedy, she was told, would be a surgical operation known as an anterior spinal fusion. Although the problem was in her back, the surgeon would go in from the front, make the incision from her chest bone almost down to the pubic bones, remove her insides, and drill into her hipbone in order to obtain the necessary “dowels” for grafting into the spine. After that she would be flat on her back in a body cast for three months, and then have to wear a steel brace for a year. With the help of a caring husband and daughter, and despite bouts of frantic claustrophobia, she somehow made it though that and was warned never to pick up anything heavier than 15lbs. She would find this to be a sore deprivation when, in time, she was blessed to have grandchildren.

Searching the Internet

CamptocormiaWhen I first began to check this out on the Internet I was disappointed to find very little that was helpful except that it was considered “a rare disorder.” Under a heading of Camptocormia, there was a photo of a Japanese lady bending forward, and information to the effect that even just resting her hands on something was enough to help her stand upright. The abstract started by informing us that axial myopathy (AM) is a rare neuromuscular disorder in which involvement of the spinal muscles manifested a bent spine and/or drooping head as leading clinical features. The disease was described as being “slowly progressive.” Then followed mention of EMGs and a “muscle biopsy specimen.”

“Kyphosis”: What On Earth Could That Be?

I was not ready to give up, and, after hours and hours of further searching I read that axial myopathy “is an associated sign of several neurological disorders and vertebral degeneration diseases; a rare neuromuscular disorder which causes a bent spine and/or drooping head as leading clinical features.” But then came this: Experts have concluded that it may be much more common than previously thought, because gradual progression of cervical kyphosis — which the Mayo Clinic defines as a forward rounding of the vertebrae in one’s thoracic spine, and Wikipedia describes as ‘hunchback’— may unfortunately often just be accepted as a feature of normal aging. The first symptoms seem to be difficulty in keeping the trunk and head in an upright position. Tests had shown the disease to be slowly progressive.

My friend’s history, after immigration to Canada, seems to have been normal enough, except for an unfortunate incident which occurred while she was planting flowers in a flowerbox on her deck and accidentally pricked her hand with the garden scissors, was infected with a fungus, thus contracting a persistent cryptococcus informants infection. Most infections with this organism are asymptomatic; however, after penetration of the fungus, pulmonary, skin, or central nervous system, disease may occur. Cases of myositis usually occur in the setting of “disseminated cryptococcal disease” but focal infections within the muscle have been reported and this was apparently what happened to her. Some cases, I have since learned, have, in addition, involved cellulitis and necrotizing fasciitis (“flesh-eating disease) in addition to myositis, and she was fortunate in that an alert hospitalist in her local hospital spotted the onset of this and took the right steps to fight it.

Starting To “Lean”

One day, while carrying a heavy load of groceries across the parking lot of a large supermarket, it just became too heavy for her, with a suddenness that pulled her so far forward that the shopping bag scraped along the paved lot and had to be dragged to where her car was parked.

Very soon it became difficult to walk up upright. She was shocked to see evidence of it in a photograph taken a few months later. A physician friend rebuked her for her poor stance and would not accept her protestations that she could not help it; that she could no longer raise her arms sufficiently to put plates away on a shelf or hang up her clothes. She seemed able to cope better when her hands hung down, but the moment she made an attempted to raise them she would start to fall forward. It was as though they had become too heavy for her spine to support.

Could Earlier Diagnosis or Intervention Have Helped?

No one will ever know, I guess, but the support of a more caring doctor would have been welcome. Hers, unfortunately, was not! He soon became impatient; finally stalking out of his office one day while declaring, “I haven’t got time to listen to this!”

It was through a receptionist friend, after a long period of wallowing alone in her misery, that she was finally accepted into another practice by a doctor whom she has long since put on a pedestal; one who cares enough to have made it possible, over a period of two years, for her to have been been tested by four of the leading specialists on the Lower Mainland of Vancouver.

At the commencement of each visit to a new physician, she has completed a questionnaire, carefully noting every sickness she has ever endured, and without fail, in every case, the diagnosis has come back marked thus: Polymyositis? The last expert in the queue strongly recommended a visit to a renowned, but very busy authority, for a muscle biopsy.

When she was granted an appointment (a year later!) she was subjected to yet another EMG, and, without having to undergo the biopsy, a pronouncement was made, and she heard, for the first time, the term “axial myopathy.” Three months later she was surprised when the physician (perhaps not satisfied with her diagnosis) called her back for another examination. So inured to the painful jabs was my friend by this time that she hardly winced, and only vented her discomfort with wisecracks about no longer drinking too much water, in case she sprayed her whole apartment with it through the holes in her skin.

She was also confronted with a shocking fact — with the aid of electromyography, electrical activity can be observed while inserting the electrode, and unaware that muscle tissue at rest is normally electrically inactive, she was greatly relieved by the loud “atmospherics” emanating from the equipment. It was a shock to learn that this was not good news — that what she was hearing was the sound of dying muscles!

Which Came First? The Chicken Or The Egg?

Now she has difficulty raising her arms over her head, rising from a sitting position, or climbing stairs; her voice is sometimes affected through weakness of the throat muscles; she cannot fasten a button; and only well-monitored doses of Prednisone prevent her from falling over when without her stick. We have been reading about a possible connection between the disease and fungi.

Was her affliction inevitable — determined long before she was born with that congenital birth defect? Alternatively, what might perhaps have been revealed by a muscle biopsy?

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About Marie Warder

Born in South Africa, became a journalist and later trained as a teacher before establishing my own school - "Windsor House Academy, of which I remained the principal until I emigrated to Canada. Love to write, and have published 27 books. Played the piano in my husband's dance band for 33years. Founder and President Emerita of the the Canadian, South African and in International Association of Hemochromatosis Societies, http://en.wikipedia.org/wiki/Marie_Warder
  • Harry Blount

    Perhaps the time bomb had been ticking all the time.
    How sure are you that this is not due to that anterior spinal fusion, which might finally be catching up on her?
    I have just been reading that when surgery is done near the spine and spinal cord there can be serious complications “which could involve subsequent pain and impairment.” Worst of all, the possible need for additional surgery.

  • Melinda Terblanche

    You have a point but, having read through the evidence more than once, my husband and I can’t agree with you. We have friends who have suffered as a result of unsuccessful spinal surgery, but she seems to have been fine for many years Surely there would have been signs of that long before now.

  • Frits Gruber

    I put my money on the fungus thing which “can cause cellulitis and necrotizing fasciitis.” I have a cousin who had “flesh-eating disease once, and the doctors had to keep operating,trying to cut back damaged tissue, but eventually he had to be put into a hyperbaric chamber to save his life. Now I can’t help wondering how much damage that infection did to this lady. I don’t know how these things work so I’m just guessing that possibly a fungus like that can eat away at other parts (perhaps even muscles) and maybe before treatment commenced some damage had been done to hers.
    Of course this is a very weird point of view, but I found this a truly sad story and I sincerely hope that, if it is not too late, she can be helped

  • Mary Fraser

    Could it possibly be due to amyloidosis? I’m just guessing and perhaps I have just watched too many episodes of “House,” but that word comes up so often in the series that when I was doing what you have done – researching axial myopathy – and came upon the word amyloidosis in connection with it I couldn’t help wondering

  • Harry again.

    I doubt it. Could find nothing about amyloidosis to support this.

  • Selma Graham.

    Talking about “House,” this “forum” is beginning to sound a lot like his program – when all the members of his team get together and comment on a difficult case.
    That “inborn” congenital defect could well have been the cause. Sometimes even well-built buildings can collapse after the passage of time.
    How fortunate that the anterior fusion seems to have given her many years of activity.

  • Lavonia

    Certainly not a good situation to find yourself in, but how I envy her that doctor! The one she has now. If I did I’d also put him on a pedestal. Mine is of the first genre. Never listens…doesn’t care worth a darn …never reads test results… and I swear that, after five years, he still wouldn’t recognize me if he saw me in the street!

  • Miriam Pickard

    I have often thought about this lady’s situation and keep coming back to this article in case there’s an update. Tonight I have spent hours researching muscle diseases and I was interested to read in an article on the Net that MYOSITIS can be caused by a fungus, and this has set me wondering.

    If a fungus has been known to cause MYSOTIS, couldn’t this person’s MYOPATHY be due to that fungus she got from pricking her hand with the garden scissors?

  • http://www.dromedarisbooks.com/ Marie Warder

    Postings 4, 5, and 6.
    Thank you, Mary, for your suggestion that Amyloidosis might be the root cause and thanks to those who commented on it. I have been doing a great deal of research – triggered by these comments – and hope to post an article in the very near future.

  • Marie Warder

    Well, it seems that the ‘mystery’ has been solved at last!
    I have written at length about “pseudo gout” and the crystal deposition that causes it. Well, very detailed X-Rays have now proved that the lady in question is riddled with it – to the extent f even having more than one minor fractured in her spine. The anterior spinal fusion in her spine at the age of 39, probably gave way on the day when she carried that very heavy parcel across to her car at the shopping mall.
    Little can be done for her as even her wrists are now compromised.
    Thank you for ALL the comments!

  • Fritz Gruber

    THIS MIGHT WELL BE THE ANSWER~

    Infectious myositis — an acute, sub-acute, or chronic infection of skeletal muscle. Once considered a tropical disease, it is now seen in temperate climates as well. Viruses, bacteria (including mycobacteria), fungi, and parasites can cause myositis.
    She reportedly suffered brutally from the fungus that entered her body when she accidentally stuck the garden scissors into her hand about three years ago, and I now recall that, in her teens, she was very sick with what is now known as “Tick bite fever” after riding horses bareback – disobeying her mother ( and the local cop!).

    This does not mean that she is infectious – but the tick was!

  • Elaine Murray

    Thank you all for your responses. I write on behalf of my friend to let you know that she is no better but keeps hoping, and finds your interest very encouraging.

  • Marie Warder

    This patient most certainly does not have axial myopathy.
    I would rather make a calculated guess that she has:
    Calcium Pyrophosphate Dihydrate Crystal Deposition Disease

    Or

    “CPDCDD” from which I personally suffer.

    Chondrocalcinosis, also known as ‘Pseudo gout’ and sometimes ‘acute arthritis’, is caused by CPPD crystal-induced inflammation, and is nearly as common as ‘real’ gout — which is caused by uric acid crystals. Like it, it causes what many have described as ‘excruciating’ pain, when it flares up. CPP stands for ‘Calcium Pyrophosphate Dihydrate Crystals, and another name for Chondrocalcinosis or Pseudo Gout is ‘Calcium Pyrophosphate Dihydrate Crystal Deposition Disease.’ (One only has to think of fireworks as ‘pyrotechnics’, to sympathize with anyone who suffers from this!)

    What Is It? – A condition that causes pain, redness, heat and swelling in one or more joints, eventually resulting in damage to the affected joints. (Mostly those of the knees, thumbs, wrists, and the one between the pubic bones in the front of the pelvis.) Sufferers will know at once what is meant by the ‘painful handshake’, as one of the earliest symptoms is ‘arthritis’ of the thumb joint and the knuckles of the first and second fingers. This telltale swelling is a classic manifestation, and, if I had my way, the knuckles of every person afflicted with ‘arthritis’ would be examined for possible Hemochromatosis.

    What Causes It? – Deposits of calcium pyrophosphate dihydrate crystals in a joint, which weaken the cartilage and cause it to break down more easily. The presence of these tiny CPPD crystals in the joints, and the body’s reaction to these crystals, creates often agonizing inflammation as ‘A’ cells rush to attack the crystals. A fruitless exercise, as the crystals are indestructible, and, during one of the attempted ‘A’ cell rescue operations, they lose the battle — causing the patient’s immune system to be temporarily compromised, as a result.)

    Often dismissed as ‘arthritis’, CPDCDD has been reported, by many homozygous people with whom I have worked, (i.e. those who carry two genes) as having been the presenting symptom of the onset of Hemochromatosis. Over the years I have learned, however, that that it is even possible for Heterozygotes (one gene) to be afflicted. I have known some with knees so swollen that the fluid has had to be aspirated. Physicians do not readily prescribe oral cortisone for the treatment of CPDCDD, but, from my own experience, I can tell you that an injection into an afflicted joint can work wonders!

    HOW CAN THIS AFFECT MUSCLES?
    A substance called ‘apatite’ (a mixture of various calcium phosphate crystals) forms the normal mineral in human bones. In healthy adults apatite occurs only in our bones and teeth and there are no calcium crystals elsewhere.
    Extract taken from my book: “The Bronze Killer.”

  • Vernon Bush

    I still maintain that, in the case of this lady, either the possibility of malnutrition when she was in her early teens – together with or the virus she picked up when pricking her hand with the garden scissors – are at the root of her problems.

  • Marie Warder

    Thank you for your comment, Vernon, but now, when she is almost totally crippled — to the extent that she even finds it hard to holed a teacup — she has finally been diagnosed with chondrocalcinosis.

  • Marie Warder

    Apologies for the typo in the previous comment. ‘Holed’ should have been ‘hold.’

  • Linda Larkman

    Having read this amazing article, I could so identify your friend’s symptoms to that of mine. I am at the stage where I have wasted paraspinal muscles, have had an EMG am awaiting results. In the meantime, I am stooped over very badly with aching neck muscles hardly able to lift head. Drag anything heavy along the ground as I am stooped over and cannot lift. Now my arms are so weak I cannot put the plate away in the cupboard, so stand on a stool for height. Go upstairs on my hands as too weak to climb. Thought I might have axial myopathy rather than polymyositis, but read that axial myopathy gets progressively worse so could have myositis eventually. Incidentally I have never taken anything toxic into my system or had invasive spine surgery.. Always been so healthy. Thank you for sharing, so useful. xx