Spinal Muscular Atrophy (SMA) is a disease that attacks at a disturbing rate. It may be scary to realize that while we know AIDS & Cancer all too well, a disease that 1 in 40 will carry and 1 in 6000 will suffer from is greatly ignored. There are currently 5 main types of SMA.

  • Type 1: Usuallly attacks the hardest; children are diagnosed before 6 months (most before 3 months) - the life span is usually extreamly limited, and life before death is harsh.

  • Type 2: Less severe, however life span is quit often limited. Diagnosis usually happens between 15 months and two years. Simple things (Like sitting up) are difficult and often require constant assistance.

  • Type 3: Diagonosed between 18 months and upto the age if 10. Non-fatal, and life span is not limited. There are several different effects difficulity in standing from sitting position, and gitting up after falling are common.

  • Type 4: Affects persons usually only after the age of 30. Most of the time it is not even diagonosed. Progression is slow, but many of the effects of three show forth in 4.

  • Type 5: Like 4 except due to a mutation it will also cause female chacteristics.

Spinal Muscular Atrophy is, as the name suggests, a disease involving the spinal cord, more specifically the anterior horn cells located within the spinal cord. It is classified as a neuromuscular disorder. This condition varies drastically in severity and can be anywhere from completely debilitating to manageable with no real detriment to the inflicted individuals life. The disorder was first discovered in adults around 1850, later another type was discovered in children. Eventually, they established the five types listed above.

The initial diagnosis of SMA often leads to more intensive testing to determine exactly which of the five types is concerned in each case. These tests may include blood (to test for high levels of CPK), measuring the electrical activity of muscle, and sometimes muscle biopsy. More recently there have been improvements in diagnosis methods and much simpler gene testing may help to determine if the disease is present with less discomfort to the patient.

Typically, those affected will experience weakness in regards to voluntary muscle movement, especially in the legs which are nearest the anterior horn cells themselves. Weakness in the arms is not uncommon but is often less severe. Breathing can also be affected as the muscles involved in the respiration process are often weakened as well. In chronic cases lifting of the head and swallowing may be compromised, sometimes a feeding tube is necessary. Facial muscles are not usually affected, as most of the symptoms involve the body itself, especially the trunk. The worst cases of SMA are fatal, and life prior to death is generally complicated and unpleasant. It is important to note that this disease does not hinder intelligence, many of those inflicted have above average intelligence levels.

This is a genetic disorder and is passed on by the parents of those infected. Both parents must carry the disease in order for it to pass on to the child, the frequency rate for children affected when both parents carry the gene is 25%. Adult SMA is slightly different and may be caused by a recessive gene passed on through family generations. This disease effects one in every 40 people who carry the gene necessary and one in every 6,000 babies is born with SMA.

There are many support groups for families and those who are living with SMA. It is one of the most common genetic disorders in the world.

sources: http://www.fsma.org/sma_facts.htm, http://www.mdausa.org/publications/fa-sma.html.

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