SMA Disease

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Spinal muscular atrophy, in short, SMA disease, is a genetic, inherited motor neuron disease that affects the individual’s central nervous system, peripheral nervous system, and controlled muscle movements of the skeletal musculature. There is no cure for SMA disease. SMA disease is a very rare disease.

Most of the nerve cells that control the muscles in the body are located in the spinal cord. During the SMA process, the muscles in the body cannot receive and react to signals from the nervous system. When the muscles are not regularly stimulated by nerve cells, they undergo atrophy, that is, they start to shrink.

Children who show the first symptoms at birth or in infancy show the lowest level of functionality. This is called type 1. SMA disease that begins in young people is named as type 2 and type 3, while SMA disease that shows symptoms in adulthood is classified as type 4. The later the SMA disease begins under normal conditions, the less motor function levels are affected.

What Are the Symptoms of SMA Disease?

The symptoms of SMA disease cover a wide spectrum according to the type and severity of the disease. The most prominent sign and symptom of SMA disease is a weakness in controllable muscles. The muscles most affected by this disease are the muscles closest to the center of the body, such as the shoulders, hips, thighs, and upper back muscles. When the back muscles are weakened, spine curves or humpback may develop.

The signs/symptoms of SMA vary depending on the type of disease. The most common symptoms of SMA disease are muscle weakness and atrophy. Symptoms of SMA disease, which may vary according to the type of disease, generally include the following items:

Weak muscles, weakness, difficulty moving

Poor head control

Poor sucking and swallowing difficulties

Bone and joint problems – Like a curved spine.

Poor voice and tongue twitch

Unusually frequent falls after starting to walk decreased ability to walk

Difficulty standing up after sitting on the ground

Difficulty in maintaining balance

Bell-shaped body

Cramping and decreased reflexes

Is there any new research on SMA?

Many scientists and clinicians are working hard to improve our understanding of this disease and to improve the survival and quality of life of SMA patients. Recent discoveries of genes involved in SMA and their role in maintaining the health of motor neurons and new advances in molecular medicine offer hope for better treatment strategies in this disease. Recent research has focused on strategies to increase SMN protein production with different approaches.

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