Spinal muscular atrophy (SMA)


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Spinal muscular atrophy (SMA) is a genetic disease that affects the part of the nervous system, which is responsible for a voluntary muscle movement.

Spinal muscular atrophy (SMA)Most nerve cells that control muscle is located in the spinal cord, therefore, due to the absence of signals for muscle atrophy occurs – they are becoming smaller and smaller due to a lack of activity.

Spinal muscular atrophy is associated with the loss of nerve cells called, motoric neurons in the spinal cord and are classified as motoneuron disease.

The most common form of SMA is that associated with chromosome 5 or SMN. The symptoms of spinal muscular atrophy, the age of disease onset and rate of progression of the disease, however, are highly diverse.

The age at which symptoms appear the first spinal muscular atrophy is associated with the extent to which the disease will affect the motor function of the patient. If the illness begins immediately after the birth or in early childhood, the muscles have the lowest level of functioning (type 1). SMA that appear in the older child is slightly milder (the types 2 and 3), a disease in adolescents and adults usually allow for a higher level of motor function of muscles (type 4).

The causes of spinal muscular atrophySymptoms of diseases

The disease is linked to a deficiency of the protein SMN in motor neurons, and this protein is responsible for their proper operation. Its deficiency resulting from the genetic defect (mutation) associated with chromosome 5, contribute to the development of the disease.

The symptoms of spinal muscular atrophy

The SMA symptoms are varied and include both mild problems associated with muscle motility and far-reaching damage, or loss of muscle. Depending on the location of the tissue, they are more or less affected the spinal atrophy. Those who is closer to the body – proximal muscles are much more vulnerable to disease, in comparison to distal muscles.

The main symptoms of the disease are:

  • muscle weakness – especially those closest to the center of the body like the shoulders, hips, thighs, or upper back;
  • problems with muscles that help with breathing and swallowing;
  • the weakening of the back muscles;
  • the curvature of the spine.

In connection with the age at which the disease has been diagnosed, there may be other symptoms associated with the level of muscular motor function.

Treating of spinal muscular atrophykobieta_labolatorium

A form of the disease differ in severity, so treatment is adjusted individually. The later starts to develop from spinal muscular atrophy, the smaller the deficiencies of SMN protein in the body and thus less severe disease. Medicine can extend the life and efficiency of the muscle affected by this genetic mutation patients.

The study focused primarily on strategies to increase the production of SMN protein in the body, which is missing as a result associated with the defective chromosome 5 disease. The doctors are trying to help motoric neurons to survive under adverse circumstances.

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