In the chat rooms I’ve talked to some about my disability. Now so you know it doesn’t bother me, I just thought I’d write this to explain what my disability is. I’m sure most thing I’m paralyzed but I actually have Muscular Dystrophy. To be more specific I have Spinal Muscular Atrophy Type 2 (SMA II). The following come from the SMA Website. I hope you understand the medical terminology because I sure as hell don’t, LOL! Also, what it says about Type II doesn't completely discribes me. It varies from person to person. Mine isn't that severe.
What Is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories, based on certain key motor function milestones.
What Causes Spinal Muscular Atrophy?
SMA is an autosomal recessive genetic disease. In order for a child to be affected by SMA, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. Although both parents are carriers the likelihood of a child inheriting the disorder is 25%, or 1 in 4.
An individual with SMA has a missing or mutated gene (SMN1, or survival motor neuron 1) that produces a protein in the body called Survival Motor Neuron (SMN) protein. This protein deficiency has its most severe affect on motor neurons. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, without this protein nerve cells may atrophy, shrink and eventually die, resulting in muscle weakness.
As a child with SMA grows their bodies are doubly stressed, first by the decrease in motor neurons and then by the increased demands on the nerve and muscle cells as their bodies grow larger. The resulting muscle atrophy can cause weakness and bone and spinal deformities that may lead to further loss of function, as well as additional compromise of the respiratory (breathing) system.
There are four types of SMA, SMA Type I, II, III, IV. The determination of the type of SMA is based upon the physical milestones achieved. It is important to note that the course of the disease may be different for each child.
Type II
The Diagnosis of Type II SMA is almost always made before 2 years of age, with the majority of cases diagnosed by 15 months. Children with this type may sit unsupported when placed in a seated position, although they are often unable to come to a sitting position without assistance. At some point they may be able to stand. This is accomplished with the aid of assistance or bracing and/or a parapodium/standing frame. Swallowing problems are not usually characteristic of Type II, but vary from child to child. Some patients may have difficulty eating enough food by mouth to maintain their weight and grow, and a feeding tube may become necessary. Children with Type II SMA frequently have tongue fasciculations and manifest a fine tremor in the outstretched fingers. Children with Type II also have weak intercostals muscles and are diaphragmatic breathers. They have difficulty coughing and may have difficulty taking deep enough breaths while they sleep to maintain normal oxygen levels and carbon dioxide levels. Scoliosis is almost uniformly present as these children grow, resulting in need for spinal surgery or bracing at some point in their clinical course. Decreased bone density can result in an increased susceptibility to fractures.
