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  • MUSCULAR DYSTROPHY

Muscular dystrophy (abbreviated MD) refers to a group of genetic, hereditary muscle diseases that weaken the muscles that move the human body.[1][2] Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue

http://www.wikipedia.org

LGMD - the facts

Definition - One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.

Cause - A mutation in any of at least 15 different genes that affect proteins necessary for muscle function.

Onset -Childhood to adulthood.

Symptoms - Weakness and wasting first affecting the muscles around the shoulders and hips (limb girdles).

Progression - Usually progresses slowly, with cardiopulmonary complications sometimes occurring in later stages of the disease.

Inheritance - Some types are autosomal dominant, meaning LGMD is inherited from one parent. Other types are autosomal recessive and occur when a faulty gene is inherited from each parent.


This is not *J* it's just an angry baby



Limb Girdle Muscular Dystrophy


4 June 2007

Initial Indications

Limb Girdle Muscular Dystrophy – March 1985 to date.

I still remember that day in March, but before I get to that day I need to tell you about the time leading up to that day.

From a young age I thoroughly enjoyed sport, especially the fitness side of it all and was taking part in several types of sport, netball, tennis, athletics and Karate. One day at school, I was sent to the admin office ( No!, not the principals office, luckily) and on my way there I went down a grass embankment and lost my footing. I tried to get up, but couldn’t, my legs just had no strength. I waited a few minutes and tried again, this time managing to get up. I didn’t think much of it, thought it was rather funny, what if one of the teachers happened by to find me sitting on the grass?

In the Physical Training (PT) class, not long after that episode, the teacher put us through some routines to evaluate our physical form. We had to do a set of different exercises in a thirty second time period, like push-ups, sit-ups, jumping, etc. All of which went well, except the one exercise which I had no success at. All my friends had no trouble executing the exercise, but my attempts all failed.

The teacher took me aside and said that with my level of fitness, it worried her that I couldn’t do that exercise. Again I thought nothing of it, I was sure that I would be able to do it the next time. Unfortunately, I never got to try again, because subsequent PT classes required that we run several laps to warm up and every time I would collapse near the finish line. Falling down like that without any reason really worried me and the distances I could run became shorter and shorter. I would be putting the one foot in front of the other the one minute and the next there were no strength in my legs. I was fourteen years old at the time.

Initial Diagnosis

I told my parents about this and we consulted a neurologist. His diagnosis was that I had over exercised and needed to go for physiotherapy to prevent further possible damage to the muscles in my legs. Other than that he couldn’t determine a specific reason why I had difficulty running. The next year saw me going for physiotherapy twice a week and paying special attention to proper warm up and warm down exercises, none the wiser about what might be the cause of the muscle weakness in my legs.

During the summer holiday at the end of that year, I was reading an article in a magazine one day about a school improving their infrastructure for a pupil with Muscular Dystrophy. In the article they listed the symptoms of his particular MD (Muscular Dystrophy) and although there were a few symptoms that didn’t correlate, the majority did. The article also mentioned the relevant contact details of the Muscular Dystrophy Foundation of South Africa (MDSA), which brings us to that day in March 1985.

My appointment was with the Head of MDSA, Dr. H. Isaac, who after performing two biopsies, diagnose me with Becker MD. At the time the knowledge we have today were still being collected and a cure a distant possibility.

I heard him explain that it is an incurable, hereditary muscle wasting disease, but didn’t quite know what it all meant. The prognosis’s of any MD differs from one person to the other which obviously made it difficult to give precise answers to my questions, confusing me even more. One thing I did understand though was that life as I had known it was never going to be the same again. I had just turned sixteen years old a couple of month before.

  Submitted by: *J* at Monday, June 18, 2007  Links to this post

Diagnosis Changed

In an effort to try and understand what was happening to me and what was to happen, I got the book Muscular Dystrophy; The Facts by Alan E. H. Emery – Oxford Medical Publications.

I wanted to know more about MD, but not too much, it scared me to read about what was still to happen seeing that it is a progressive disease. It wouldn’t help me living in anxiety about that which hasn’t manifested as yet, I needed to concentrate on what I could still enjoy doing. Needless to say, it was easier said than done, because teenage years and impairment do not the best combination make.

The first thing I did was to cut back on all my sport activities and to take special care when exercising. I continued with the Physiotherapy, but reduced my appointments to once a week and for the remainder of that year the regression in my muscle strength was minimal. The following year I had an appointment with a Specialist to determine what the effect of MD had been on my general health to date. It was due to the results of this health examination that the initial diagnosis of Becker Muscular Dystrophy was change to Limb Girdle MD.


Impaired Mobilty

Although LGMD regresses slowly, it regresses nonetheless and I began feeling the impairments it brought, more and more in my everyday life.

  1. Flights of stair became increasingly difficult especially if there were no handrails.
  2. Uneven terrain was something I had to tackle with a good plan in place.
  3. I needed more and more assistance getting out of a sitting position or up from the floor.
  4. In the years to follow I relied on crutches to assist me to not lose my balance when walking or when ascending and descending stairs one at a time.
  5. When I went somewhere, I needed to be accompanied by someone in order to help me if I had fallen and help me up stairs.

Apart from my physical disabilities my health otherwise had not been affected. In 1991, at the age of twenty two, I was invited to be part of a research group at an Academic Hospital under Dr. P. Stubgen. Three days of intensive testing of my general health together with MD related analyzes, confirmed that although the disease had, in the last eight years, deteriorated  my muscle strength in the way the Doctors had expected, my general health was unaffected.

Impaired mobility in my arms

In the latter part of my twenties, I started noticing weakness in my arms. Initially it was small changes, like not being able to lift an arm to reach up high. When I, however, interlocked my fingers, using both arms simultaneously; I could lift my arms above shoulder height.

Gradually the strength and mobility in my arms deteriorated, to the point where one arm had to support the other in lifting items. Adaptations to the way I accomplished anything was the order of the day and I was pleased to still find different, albeit unorthodox, ways to still be able to go about me day. Utter frustration was naturally also the bane of my existence.

It was a long and difficult struggle to avoid using a wheelchair and eventually the day came where, as I had expected, it would be irresponsible to avoid it any longer. I couldn’t afford to fall and break a shoulder or hip, it would be detrimental.

My introduction to life in a wheelchair started, firstly with relieve. The all consuming fear of falling was replaced with the security of the wheelchair. A manual wheelchair also gave me the assurance that what ever strength I still had in my arms and shoulders, would not be diminish rapidly.

At this point in my life with MD I could still stand unassisted, although I didn’t walk any more. I still needed someone though to help me get to a standing position and unfortunately one day I lost my balance and collapsed onto the lower part of my right leg. This fall resulted in a spiral fracture in the bone, which had to be in a cast for at least twelve weeks. Needless to say, that a period that long without using the muscles you need to stand, led to me losing that ability too.



Subpages (19): >Becker's Muscular Dystrophy >Carers the Unsung Heroes >Charcot Marie Tooth >Dermatomyositis >Duchenne MD >FSH Facioscapulohumeral MD >Help aids & equipment >Hereditary Inclusion Body Myopathy >Inclusion Body Myositis >Just for the love of writing >Learning to live all over again >Limb Girdle MD >Multiple Sclerosis >Myasthenia Gravis >Myositis General >On a lighter note -- humour for free >Poems and Prayers >Polymyositis >SMA Spinal muscular atrophy


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