Spinal Muscular Atrophy

In Spinal Muscular Atrophy, the skeletal muscles become weak and waste away as the
child becomes older. This is caused by a genetic disorder that results in damage or loss of
specialized motor neurons of the brain and spinal cord. These motor neurons are responsible
for sending messages to the muscles from the brain to cause the body to move (National
Institute of Neurological Disorders and Stroke, 2023).
When the skeletal muscles are not able to receive movement ordered messages from
the brain, the body becomes limited in its mobility. Body parts such as the arms, legs, chest,
face, throat, and tongue become most affected by spinal muscular atrophy. The child can also
present with scoliosis (curvature) of the spin, making muscular and respiratory system function
even more difficult, and sometimes resulting in death as a result of the respiratory complications
(National Institute of Neurological Disorders and Stroke, 2023).
The genetic disorder affects the production of proteins needed for the development of
the motor neuron specialized parts called dendrites and axons, which allows the travel of
messages from the brain to the skeletal muscles (MedlinePlus, 2018)
There are a total of 4 types of spinal muscular atrophy that affect the body differently.
Types 1-2 are evident before age 18 months, type 3 after the age of 18 months, and type 4 will
develop after the age of 21 years old. With type 1 being the most severe, some untreated
children will die before they turn 2 years old. In type 2, the child is able to sit independently, but
can’t stand or walk without help. In type 3, children are less affected and are even able to walk
independently, but still require some help with it and with running, climbing stairs or getting out
of bed or a chair. Type 4, symptoms consist of mild-moderate muscular weaknesses (National
Institute of Neurological Disorders and Stroke, 2023).

Resources:

U.S. Department of Health and Human Services. (n.d.). Spinal muscular atrophy. National Institute of
Neurological Disorders and Stroke.
https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy#:~:text=People%20li
ving%20with%20SMA%20have,of%20the%20hands%20and%20feet.

U.S. National Library of Medicine. (n.d.). SMN1 gene: Medlineplus genetics. MedlinePlus.
https://medlineplus.gov/genetics/gene/smn1/#:~:text=The%20SMN%20complex%20helps%20to,and
%20from%20neurons%20to%20muscles.