This is my personal page where I will share info from my life and living with a form of Muscular Dystrophy called Spinal Muscular Atrophy type 3, SMA-III, also known as Kugelberg - Welander Disease.
What is SMA3?
Spinal Muscular Atrophy is a term for a group of inherited neuromuscular diseases. All forms of the disease affect specialized nerve cells called motor neurons, which control the movement of voluntary muscles. SMA causes lower motor neurons in the base of the brain and the spinal cord to disintegrate, preventing them from delivering electrical and chemical signals that muscles depend on for normal function. Involuntary muscles, such as those that control bladder and bowel function, are not affected in SMA. Hearing and vision are not affected, and intelligence is normal or above average. Investigators have noted that children with SMA can have very high intelligence. Occasionally, SMA is inherited as an autosomal dominant condition. In these cases, only one parent need have a genetic defect for a child to show the disease.
All the big medical words and terms I'll put the jargon aside and give you my personal translation in layman's terms that everybody and anyone that comes to read my tiny web site can understand.
In a nutshell:
The brain doesn't tell the body to fully regenerate new muscle tissue. And those muscles slowly die do to the brain not telling those muscle cells that should regenerate, the body deposits fatty cells in the areas where the muscle should regenerate. Which starts to weaken the legs, arms, and progresses throughout the rest of the body over time.
Glamorous isn't it!
Muscular Dystrophy facts:
There currently is no cure for Muscular Dystrophy. There are no known drug cocktails / treatments to slow the progression of any of the 40 forms of Muscular Dystrophy.
The Muscular Dystrophy Org has raised over 2 Billion dollars.
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