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Running head: SPINAL MUSCULAR ATROPHY
Spinal Muscular Atrophy
COURSE NAME
YOUR NAME
July 1, 2019
Running head: SPINAL MUSCULAR ATROPHY
1
Spinal muscular atrophy is a disease that affects 1 in 8,000 people in the world.
While it is not the most common disease it does have great effects on people who suffer
from it. It is a genetic disease which affects the nervous system, specifically the area that
controls voluntary muscle movement. There are four types of spinal muscular atrophy
which have their specific symptoms and manifestations. The treatment for this disease
include managing the symptoms and research is being conducted on different
medications to treat spinal muscular atrophy.
The etiology of spinal muscular atrophy is genetic. The most common type of
genetic issue is a deletion found in arm 5q, which is present in 98% of people with spinal
muscular atrophy( Ranade & Goldstein, 2018). The SMN is normally an inactive gene
during the fetal period and then becomes active in the mature fetus in order to stabilize
the neuron population. The mutation of this gene leads to a lack of a protein. This protein
is in charge of maintaining the function of motor circuits and motor neurons.
The disease is categorized into five different types. These variations are caused by
changes in the same SMN gene. The different types have variations in age of appearance
as well as the severity of the disease yet they have an overlap of some symptoms. The
first type of spinal muscular atrophy that will be discussed is type 0. This is the rarest
type of the disease and the most severe. This disease is diagnosed during the fetal period
befo...