Ehlers-Danlos Syndrome (EDS) represents a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, bones, blood vessels, and other tissues. Among the various types of EDS, Type 7A, also known as Arthrochalasia EDS (aEDS), is caused by mutations in the COL1A1 gene. This specific type is rare and is characterized by a series of symptoms that can significantly impact an individual’s quality of life. Understanding these symptoms is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the COL1A1 gene to help diagnose Ehlers-Danlos Syndrome Type 7A, priced at 4400 AED. For more information, visit DNA Labs UAE.
Symptoms of COL1A1 Gene Ehlers-Danlos Syndrome Type 7A
The symptoms of Ehlers-Danlos Syndrome Type 7A, caused by mutations in the COL1A1 gene, are varied and can affect multiple systems in the body. The primary symptoms include hypermobility of the joints, which often leads to frequent dislocations and subluxations, particularly in the hips. Patients may also experience skin hyperextensibility, meaning the skin can be stretched farther than normal but is fragile and bruises easily. Another hallmark symptom is muscular hypotonia, or decreased muscle tone, which can delay developmental milestones such as sitting, crawling, and walking in affected infants.
Additionally, individuals with EDS Type 7A may have distinctive facial features, such as a small chin, a thin nose with a high bridge, and large eyes. They may also exhibit short stature and have a tendency to develop scoliosis, a condition characterized by an abnormal curvature of the spine. It is important to note that the severity of symptoms can vary widely among individuals with EDS Type 7A.
Diagnosing Ehlers-Danlos Syndrome Type 7A
Diagnosing EDS Type 7A requires a comprehensive approach that includes clinical evaluation and genetic testing. The COL1A1 gene test offered by DNA Labs UAE is a critical tool in confirming the diagnosis of EDS Type 7A. This test looks for specific mutations in the COL1A1 gene that are known to cause the disorder. A positive test result can help in the accurate diagnosis of EDS Type 7A, which is essential for proper management and treatment of the condition.
Management and Treatment
While there is no cure for Ehlers-Danlos Syndrome Type 7A, early diagnosis and management can significantly improve the quality of life for those affected. Management strategies may include physical therapy to strengthen muscles and improve joint stability, and bracing or surgery to manage joint dislocations and scoliosis. Pain management is also an important aspect of treatment, as individuals with EDS Type 7A may experience chronic pain due to joint instability and frequent dislocations.
Test Cost and Availability
The genetic test for the COL1A1 gene offered by DNA Labs UAE is priced at 4400 AED. This test is available for individuals who exhibit symptoms of EDS Type 7A or have a family history of the condition. Early genetic testing and diagnosis are crucial for the effective management of EDS Type 7A, as they allow for timely intervention and the implementation of appropriate management strategies.
For more information about the COL1A1 gene Ehlers-Danlos Syndrome Type 7A genetic test and to schedule a test, please visit DNA Labs UAE.
