Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 (SMA-DAR4), also known as Spinal Muscular Atrophy with Lower Extremity Predominance 2 (SMA-LED2), is a rare genetic disorder caused by mutations in the PLEKHG5 gene. This condition is characterized by progressive muscle weakness and atrophy, predominantly affecting the lower limbs. The disease’s onset can vary from early childhood to adulthood, leading to significant physical disability over time. Early diagnosis and intervention are crucial for managing symptoms and improving the quality of life for those affected. DNA Labs UAE offers a comprehensive genetic test for SMA-DAR4, providing a vital tool for accurate diagnosis and familial genetic counseling.
The symptoms of SMA-DAR4 can vary significantly among individuals but generally revolve around progressive muscle weakness and atrophy, primarily in the lower limbs. The disease tends to manifest in early childhood or adolescence but can also appear in early adulthood. Common symptoms include:
- Weakness in the muscles of the lower limbs, leading to difficulty in walking, running, and climbing stairs.
- Muscle wasting in the legs, which may lead to an abnormal gait and increased risk of falls.
- Decreased tendon reflexes in the legs.
- Potential difficulties with fine motor skills in more advanced stages of the disease.
- In some cases, mild sensory loss may be present.
It’s important to note that the severity and progression of symptoms can vary widely among individuals. Some may experience a slow progression of muscle weakness, while others may face more rapid deterioration, leading to significant mobility issues.
The genetic test for SMA-DAR4 offered by DNA Labs UAE is a critical step in the diagnosis and management of this condition. By analyzing the PLEKHG5 gene, this test can confirm the presence of mutations responsible for SMA-DAR4, providing definitive diagnosis and enabling families to make informed decisions about care and management. The cost of the test is 4400 AED, a valuable investment in clarifying the genetic status and guiding the approach to treatment and support.
For more information and to schedule a genetic test for SMA-DAR4, please visit DNA Labs UAE. Our team of genetic experts is dedicated to providing accurate, comprehensive genetic testing services to help individuals and families understand and manage genetic conditions effectively.
Early diagnosis through genetic testing can be a turning point in the management of SMA-DAR4, allowing for timely interventions and support services that can significantly improve the quality of life for those affected. If you or a family member are experiencing symptoms related to SMA-DAR4, consider reaching out to DNA Labs UAE for a consultation on the PLEKHG5 gene test. With accurate diagnosis and supportive care, it is possible to manage the symptoms of SMA-DAR4 and lead a fulfilling life.
