SPINAL MUSCLE

ATROPHY
BRIANNA RUYBE

WHAT IS SPINAL MUSCLES ATROPHY (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called
motor neurons, in the spinal cord.
These cells communicate with your voluntary muscles - the ones you can control,
like in your arms and legs. As the neurons die, the muscles weaken.
SMA runs in families. Parents usually have no symptoms, but still carry the gene.
Genetic counseling is important if the disease runs in your family.
There are many types of SMA. Some of them are fatal. Some people have a normal
life expectancy. It depends on the type and how it affects breathing. There is no
cure. Treatments help with symptoms and prevent complications.

WHAT CAUSES SMA?

SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1).

In a healthy person, this gene produces a proteincalled survival motor neuron
protein or SMN proteinthat is critical to the function of the nerves that control our
muscles. Without it, those nerve cells cannot properly function and eventually die,
leading to debilitating and often fatal muscle weakness.

HOW DOES SMA AFFECT THE MUSCULAR

SYSTEM?
The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of
the voluntary muscles.
The muscles most affected are those closest to the center of the body, such as
those of the shoulders, hips, thighs and upper back.
Special complications occur if the muscles used for breathing and swallowing are
affected, resulting in abnormalities in these functions
If the muscles of the back weaken, spinal curvatures can develop.

WHO IS SUSCEPTIBLE TO SMA?

People who have SMA usually get it when they are children. SMA is passed through
genetics. Sometimes people who have SMA in their genes dont have any symptoms
but can pass it on if they have children

SIGNS AND SYMPTOMS

In chromosome 5-related SMA, the later the symptoms begin and the more SMN
protein there is, the mild
Spinal muscular atrophy is characterized by slowly progressive muscle weakness
and atrophy of the limb muscles associated with motor neuron loss in the spinal
cord. Bulbar muscular atrophy affects the bulbar and facial muscles with motor
neuron loss in the brainstem the course of the disease is likely to be.

DIAGNOSING SMA

To make a diagnosis of SMA, symptoms need to be present. When symptoms are

present, diagnosis can be made by genetic testing. Gene alterations (mutations) in
the SMN1 and VAPB genes cause SMA. Having extra copies of the SMN2 gene can
modify the course of SMA.

IS THERE A CURE?
Unfortunately, there is no cure but here are the following treatments:
Muscle relaxants such as baclofen, tizanidine, and the benzodiazepines may reduce spasticity. Botulinum
toxin may be used to treat jaw spasms or drooling. Excessive saliva can be treated with amitriptyline,
glycopyolate, and atropine or by botulinum injections into the salivary glands. Antidepressants may be
helpful in treating depression.
Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint
immobility, and slow muscle weakness and atrophy. Stretching and strengthening exercises may help
reduce spasticity, increase range of motion, and keeps circulation flowing. Some individuals require
additional therapy for speech, chewing, and swallowing difficulties. Applying heat may relieve muscle
pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs may
help some people retain independence.
Proper nutrition and a balanced diet are essential to maintaining weight and strength. People who cannot
chew or swallow may require insertion of a feeding tube. Non-invasive ventilation at night can prevent
apnea in sleep, and some individuals may also require assisted ventilation due to muscle weakness in the
neck, throat, and chest during daytime

SMA