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 is connected to the spinal cord. The SMN1 gene plays a crucial role in the production of a protein essential for the survival of motor neurons. Mutations or deletions in the SMN1 gene lead to a deficiency of this protein, resulting in the progressive loss of motor neurons, muscle weakness, and atrophy. Among the various types of SMA, Type 2 is characterized by symptoms that typically appear in children between 6 and 12 months of age.
Symptoms of SMN1 Gene Spinal Muscular Atrophy Type 2
Children with Spinal Muscular Atrophy Type 2 exhibit a range of symptoms that primarily affect motor function. The severity of symptoms can vary, but they generally include:
- Muscle weakness, particularly in the legs and hips. Infants may have difficulty standing or walking unaided.
- Delayed motor milestones, such as sitting without support.
- Tremors in the fingers and hands.
- A tendency to tire easily.
- Respiratory difficulties due to weakness in the muscles involved in breathing.
- Curvature of the spine (scoliosis) due to weakened torso muscles.
It is crucial for these symptoms to be identified early, as timely intervention can significantly improve the quality of life for those affected by SMA Type 2.
Genetic Testing for SMA Type 2
Genetic testing for SMA, including SMA Type 2, involves analyzing the SMN1 gene for deletions or mutations that cause the disease. DNA Labs UAE offers a comprehensive SMN1 Gene Spinal Muscular Atrophy Type 2 Genetic Test that can confirm the diagnosis and assist in the planning of appropriate treatment and management strategies. This test is particularly recommended for families with a history of SMA or for infants showing symptoms consistent with the disease.
Test Cost
The cost of the SMN1 Gene Spinal Muscular Atrophy Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This investment in health can provide families with crucial information regarding the genetic status of their loved ones, enabling informed decisions about care and treatment options.
Conclusion
Spinal Muscular Atrophy Type 2 is a challenging condition that affects infants and young children, leading to significant motor function impairments. However, with early detection through genetic testing, families can gain valuable insights into the condition and how to best support their affected family members. DNA Labs UAE is committed to providing accurate and timely genetic testing services, including the SMN1 Gene Spinal Muscular Atrophy Type 2 Genetic Test, to help families navigate the complexities of this genetic disorder.
