Spinal Muscular Atrophy

1096 words (4 pages) Essay in Medical

5/12/16 Medical Reference this

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Spinal Muscular Atrophy

Spinal muscular Atrophy is a disorder when the spine and muscles are affected. The

Neurons on the spinal cord that control movement of muscles are infected and causes the

Neurons to shrink and become destroyed and prevents messages coming from the body

To the brain and muscles depend on that for proper function. Some muscles are not

affected when having SMA like the bladder muscles. “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.” There are 3 types of SMA all 3 types are known

As autonomic recessive genes. To inherit SMA both parents must give the defective gene

in order for the offspring to inherit the disorder. Sometimes SMA is inherited as an

autonomic dominant gene. Type 1, 2, and 3 are got from a defected same gene on

chromosome #5, different affected chromosomes will have different affects and types

of SMA.”There is another form of the disease called x-linked spinal bulbar atrophy that

arises from a defect in a gene called the androgen receptor gene on the X chromosome.

Every form of SMA affects the bones muscles of the trunk and limbs. These muscles

are closer to the center of the body and are more infected than other parts that are

farther than the body like the fingers. SMA type 1 affects the neurons that control

your mouth and throat which makes chewing and eating problems. Type 1 is the most

severe of all the types of SMA and is noticed during the first 6 months of birth.

Cannot sit without support or a cushion, death is usually occurred before the age

of 2. SMA type 2 isn’t as worse as type 1 and is noticed during the ages of 7 months

to 18 months of age. Cannot sit properly without a cushion or support, cannot

learn to walk without any help or assistance has numerous swallowing difficulty some

lucky children survive until childhood. Type 3 SMA occurs after the age of 18

months old. Weakness of the muscles in the mouth and throat is not likely to happen.

Not as severe as type 1 and 2 but still can cause death if not cared for, children might

live up to adulthood SMA is inherited by both

parents having the recessive gene is their DNA and the offspring inherits 22 of the

non sex chromosomes. When genes are defected they do not function and properly

produce the proteins that are needed for a cell to function. A big chain can happen

when a little protein is absent when there is too little or too much protein or if it doesn’t

work right for some reason. “In the case of SMA protein abnormalities prevent the

normal functioning of motor neurons.” SMA causes muscle degeneration and will shrink

until muscle weakness happens. SMA is not spreadable because disorders cannot spread

from person to person only if parents have the 2 recessive SMA genes. There are no

cures or treatments for spinal muscular atrophy right now but researchers and scientist

are trying to find a way to get rid of SMA or at least reverse some of the affects that

causes death for the young. Some symptoms of SMA are muscle weakness, leg

weakness, thin muscles, hard time breathing, hard time eating/swallowing, lack of

movement and walking, head control, hard time sitting up, hard time crawling when

a baby. SMA affects life span a lot, especially when a child or a baby because you

have a high risk of dying because of the disorder. Muscles are weak and have a hard

time walking.

SMA affects all kinds of people. In 1890 G. Werdnig found about

SMA and the first type of the form of SMA. Years later a person named Kugelberg

and another person named Welander described the less severe types of SMA and

its affects to the human body and muscles. “SMA is the most common diagnosis in

girls with progressive weakness. It is one of the most common genetic causes of death

in children!” In the United States it is about 5 out of 100,000 child births that are affected

with SMA. In ND (North Dakota) it is about 15 out of 100,000 children that are affected

with SMA. SMA seems to be affecting more people in North Dakota then anywhere else

in other areas. Males are more common to get SMA other than females, the ratio to males

to females is 2:1 although the ratio is 2:1 how long you live with SMA is not affected by

sex. Spinal muscular atrophy used to be only affecting black African Americans but

years have passed and it is indicated that SMA is not affecting African Americans that

much as it used to a while back. Spinal muscular atrophy is caused by the region of

chromosome #5 that contains SMN (survival motor neuron) gene has a very abnormal

huge duplication. The gene copies its self which causes mutation. The smn2 gene has

a another mutation that makes less protein that does it in a very slow level. The most

common forms of SMA are caused by the mutation of the SMN gene and affects

different areas of the body and makes severe or less severe damages depending

on how the gene mutates. Boys that get the gene die before the age of 2, but girls

that get the gene are carriers unless they die before having an offspring. There are

about 1,386 families that have SMA and 759 females and 776 males that do have

SMA. Doctors and researches help with the symptoms and features of SMA to help

reduce the chance of death. Doctors talk with children and help babies walk and breath.

The spine is dislocated and is not straight. The spine wont function correctly and

spine neurons will eventually die out and muscles will die out to.

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