Symptoms of EGR2 Gene Dejerine-Sottas Disease Genetic Test
Dejerine-Sottas Disease (DSD), also known as Hereditary Motor and Sensory Neuropathy Type III, is a rare genetic disorder that affects the peripheral nervous system. It is caused by mutations in several genes, including the EGR2 gene. This condition is characterized by a progressive loss of muscle tissue and touch sensation, predominantly in the feet and hands. Understanding the symptoms of Dejerine-Sottas Disease is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the EGR2 gene mutation, providing essential information for individuals at risk.
Key Symptoms of Dejerine-Sottas Disease
The symptoms of Dejerine-Sottas Disease usually begin in early childhood and may vary in severity among affected individuals. Key symptoms include:
- Slow Nerve Responses: One of the hallmark signs of DSD is significantly slowed nerve response speeds, which can impact motor skills and sensory functions.
- Muscle Weakness: Patients often experience weakness in the muscles, particularly those in the feet and hands, which can progress over time.
- Decreased Sensation: There is a noticeable reduction in the ability to feel touch, pain, and temperature changes, especially in the extremities.
- Foot Deformities: Many individuals with DSD develop high arches or flat feet, and toes may begin to curl (hammertoes), due to muscle weakness and imbalance.
- Difficulty Walking: The muscle weakness and sensory issues can make walking difficult, often resulting in a high-stepped gait or frequent tripping and falls.
- Chronic Pain: Persistent nerve pain is common and can be debilitating for those with DSD.
- Loss of Reflexes: Reflexes such as the ankle or knee jerk can be reduced or absent.
It’s important to note that the severity and combination of symptoms can vary widely among individuals. Early detection through genetic testing can aid in the management of the condition and improve the quality of life for those affected.
EGR2 Gene Dejerine-Sottas Disease Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing for rare diseases, including Dejerine-Sottas Disease. The EGR2 Gene Dejerine-Sottas Disease Genetic Test is a specialized examination designed to detect mutations in the EGR2 gene that are known to cause this condition. This test is crucial for individuals with a family history of DSD or those exhibiting symptoms consistent with the disease.
The cost of the EGR2 Gene Dejerine-Sottas Disease Genetic Test is 4400 AED. While the cost may seem significant, the value of the information it provides cannot be overstated. A positive test result can guide treatment options, inform family planning decisions, and provide a clearer prognosis for affected individuals. Additionally, early diagnosis through genetic testing can enable more effective management of symptoms and improve overall outcomes.
For more information about the EGR2 Gene Dejerine-Sottas Disease Genetic Test and to schedule your appointment, please visit our website: https://dnalabsuae.com/tests/egr2-gene-dejerine-sottas-disease-genetic-test/.
Understanding the symptoms of Dejerine-Sottas Disease and the availability of genetic testing can empower individuals and families to take charge of their health. DNA Labs UAE is committed to providing accurate, comprehensive genetic testing services to help identify genetic conditions early and facilitate better health outcomes.
