Spinal Muscular Atrophy Example Paper
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 Spinal Muscular Atrophy Example Paper
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.Spinal Muscular Atrophy Example Paper
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 Spinal Muscular Atrophy Example Paper
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 S pinal Muscular Atrophy Example Paper
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.Spinal Muscular Atrophy Example Paper