Tuesday, 17 May 2016

So what do I begin with?

 
What is Charcot Marie Tooth (CMT)?
 
That is the question I've been asked by a few people,
so I'll try to answer you as best I can.
Let me start by saying that CMT can be quite varied in how it presents and effects different people, so what it is for me might be nothing like it is for someone else.
 
CMT is a Hereditary Motor and Sensory Neuropathy, an inherited neurological disease that in the majority of cases has a very high chance of being passed along within the family to the next generation.
For me, my mum has it, she got it from her Dad, her sister also has it, and my sister has it too. There are other family members who also have it, there is a very strong inherited factor in my family.

CMT caused deterioration of the nerves including the feet, legs, arms and hands but can go on to effect things like your shoulders, breathing and normal organ function within your body.
The severity can vary greatly from person to person, even with the same variation of CMT within the same family (there are over 50 types of CMT, not all of them able to be precisely diagnosed easily, and there is no known cure at the moment)

Weakness in the legs effects your balance so things like walking, running, going up or down stairs (yes I can fall up stairs, I consider it my special talent) walking on uneven ground or just standing still can cause problems (for me standing still in the one place causes the most amount of discomfort and pain, in fact you very rarely see me standing completely still for very long)
I also tire very easily and have trouble doing detailed work like sewing, knitting, doing up laces. Even normal things, like unscrewing a bottle top, fastening buttons, turning on a tap or opening a certain door handles can be difficult for those with muscle wastage in the hands.

I have to concentrate when I walk, I cannot remember a time I didn't have to do this, I have to tell my foot to pick up properly so it doesn't catch on the ground, I have to scan the ground so I can adjust my footing, I can't walk along holding a conversation as I need to be aware of exactly what my feet is doing every single time I move.

Foot issues such as high arches or flat feet, weak ankles and tendon tightening can cause bigger problems. Sometimes (actually who am I kidding most of the time we will need to do one or all of these) we may need to wear foot orthotics, braces or undergo surgery.


With all of this weakening and numbness comes the risk of doing other injuries because you body doesn't work quick enough to protect itself and I don't always feel the warning signs that something isn't right. I broke bones and tendons in my foot but still walked easily on them, the only reason I knew something wasn't right was because there was a weird feeling in my foot, which was the bones grinding, while I was walking that I thought needed to be checked out.

And finally, there is pain.
I've had pain my whole life.
I never known what it's like to not have pain.

For those wanting a more detailed description of what causes CMT.....

http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of  electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.
CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain.
The gene mutations in CMT disease are usually inherited. Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease. Other forms of CMT are inherited in an autosomal recessive fashion, which means that both copies of the abnormal gene must be present to cause the disease. Still other forms of CMT are inherited in an X-linked fashion, which means that the abnormal gene is located on the X chromosome. The X and Y chromosomes determine an individual's sex. Individuals with two X chromosomes are female and individuals with one X and one Y chromosome are male. 
In rare cases the gene mutation causing CMT disease is a new mutation which occurs spontaneously in the individual's genetic material and has not been passed down through the family.



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