Symptoms and Testing information for Spinal Muscular Atrophy SMA Mutation Detection Test

Symptoms and Testing information for Spinal Muscular Atrophy SMA Mutation Detection Test

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that connects to the spinal cord. This loss leads to muscle weakness and atrophy. The severity of SMA and the age at which it begins vary significantly among individuals. Detecting the mutations responsible for SMA early on can significantly influence the management and treatment of the disease. DNA Labs UAE offers a comprehensive SMA Mutation Detection Test to identify the presence of these mutations. The test costs 2800 AED and more information can be found on our website here.

Symptoms of Spinal Muscular Atrophy

The symptoms of Spinal Muscular Atrophy may vary significantly from person to person, depending on the type of SMA. However, some common symptoms across different types include:

  • Muscle weakness and decreased muscle tone
  • Limited mobility
  • Difficulty eating and swallowing
  • Delayed motor milestones
  • Respiratory problems
  • Contractures (joints becoming fixed in a bent or straightened position)
  • Scoliosis (curvature of the spine)

It is crucial to note that the severity and combination of these symptoms can vary widely. Some individuals may experience mild symptoms and have a normal lifespan, while others may encounter severe symptoms that lead to life-threatening complications.

Importance of SMA Mutation Detection Test

The SMA Mutation Detection Test plays a vital role in diagnosing Spinal Muscular Atrophy. This test specifically looks for deletions or mutations in the SMN1 gene, which are responsible for the majority of SMA cases. Early detection through genetic testing can lead to early intervention, which is crucial in managing the disease. Treatment options and interventions can be more effective when started early, potentially improving the quality of life and lifespan of those affected.

Test Cost and Procedure

The SMA Mutation Detection Test offered by DNA Labs UAE is priced at 2800 AED. The test involves a simple and non-invasive procedure, usually requiring only a blood sample from the patient. Once the sample is collected, it is analyzed in our state-of-the-art laboratory for the presence of mutations in the SMN1 gene. The results of this test can provide invaluable information for families and healthcare providers, enabling them to make informed decisions regarding the management and treatment of SMA.

For more detailed information about the SMA Mutation Detection Test and to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/spinal-muscular-atrophy-sma-mutation-detection-test/. Our team of experts is committed to providing accurate and comprehensive genetic testing services to help individuals and families affected by Spinal Muscular Atrophy.

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