Symptoms of ATP7A Gene Occipital Horn Syndrome Genetic Test
Occipital Horn Syndrome (OHS), also known as X-linked cutis laxa or Ehlers-Danlos syndrome type IX, is a rare connective tissue disorder caused by mutations in the ATP7A gene. This condition is characterized by a variety of symptoms that can affect multiple systems of the body. Recognizing these symptoms is crucial for early diagnosis and management of the condition. At DNA Labs UAE, we offer a comprehensive genetic test for ATP7A Gene Occipital Horn Syndrome to aid in the diagnosis of this rare condition.
Key Symptoms of Occipital Horn Syndrome
The symptoms of OHS can vary significantly among affected individuals, but common manifestations include:
- Connective Tissue Abnormalities: Patients often exhibit soft, lax skin, and may have unusually flexible joints. The condition is named after the distinctive occipital horns – wedge-shaped calcifications that can be felt at the base of the skull.
- Skeletal Deformities: Skeletal anomalies such as pectus excavatum (sunken chest), scoliosis (curvature of the spine), and joint hypermobility are common.
- Muscular Hypotonia: Low muscle tone, which may lead to developmental delays in motor skills such as sitting and walking.
- Cardiovascular Issues: Some individuals may experience heart-related problems, including heart murmurs and issues with blood vessels.
- Neurological Symptoms: There can be a range of neurological issues, including migraines, seizures, and developmental delays.
It is important to note that the severity and combination of these symptoms can vary widely among individuals with OHS.
Genetic Testing for ATP7A Gene Occipital Horn Syndrome
Understanding the genetic basis of Occipital Horn Syndrome is crucial for accurate diagnosis, management, and genetic counseling. The ATP7A Gene Occipital Horn Syndrome Genetic Test offered by DNA Labs UAE is designed to detect mutations in the ATP7A gene that are responsible for the condition. This test is a valuable tool for confirming a diagnosis of OHS, especially in cases where the clinical presentation is unclear.
The cost of the ATP7A Gene Occipital Horn Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This comprehensive test provides individuals and families with crucial information regarding the condition and assists in making informed decisions about management and treatment options.
For more information about the ATP7A Gene Occipital Horn Syndrome Genetic Test and to schedule a test, please visit our website at DNA Labs UAE.
Conclusion
Occipital Horn Syndrome is a complex condition with a wide range of symptoms affecting various systems of the body. Early recognition of these symptoms and genetic testing are vital for the management of the condition. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the ATP7A Gene Occipital Horn Syndrome Genetic Test, to help individuals and families affected by this rare disorder.
