Symptoms of TRIM37 Gene Mulibrey Nanism Genetic Test
Mulibrey Nanism, a rare genetic disorder, results from mutations in the TRIM37 gene. This condition affects multiple bodily systems, leading to a wide array of symptoms. Recognizing these symptoms early can be crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for the TRIM37 gene mutation, providing essential information for affected families. The cost of the test is 4400 AED.
Understanding Mulibrey Nanism
Mulibrey Nanism (Muscle-Liver-Brain-Eye Nanism) is characterized by poor growth both in the womb and after birth, leading to short stature. However, its impact goes beyond stature, affecting various organs and systems in the body. The condition is autosomal recessive, meaning that a child needs to inherit two copies of the mutated gene, one from each parent, to be affected.
Key Symptoms of Mulibrey Nanism
Individuals with Mulibrey Nanism exhibit a range of symptoms, which can vary significantly in severity. Some of the most common symptoms include:
- Growth Failure: This is often noticeable from birth, with affected individuals showing significantly reduced growth rates.
- Characteristic Facial Features: These may include a triangular face, broad forehead, and low nasal bridge.
- Heart Problems: Many individuals with Mulibrey Nanism develop heart issues, such as constrictive pericarditis.
- Liver Abnormalities: Liver size can be increased, and there may be abnormalities in liver function tests.
- Muscle Weakness: Reduced muscle mass and strength are common, affecting physical abilities.
- Eye Problems: These can range from mild to severe and may include yellow dots on the retina.
- Low Blood Sugar: Hypoglycemia is a risk, especially in infancy.
It’s important to note that the presence and severity of these symptoms can vary widely among individuals with Mulibrey Nanism.
The Importance of Genetic Testing
Genetic testing for the TRIM37 gene mutation is crucial for diagnosing Mulibrey Nanism. Early diagnosis allows for better management of symptoms and improved quality of life. The genetic test offered by DNA Labs UAE is a reliable method for confirming the presence of the TRIM37 gene mutation. At a cost of 4400 AED, the test provides valuable information for affected individuals and their families, guiding treatment and management decisions.
Conclusion
Mulibrey Nanism is a complex condition with a broad spectrum of symptoms affecting various parts of the body. Early recognition of these symptoms and genetic testing for the TRIM37 gene mutation are essential steps in managing the condition effectively. DNA Labs UAE provides a comprehensive genetic test for Mulibrey Nanism, offering hope and support to affected families. For more information and to schedule a test, please visit DNA Labs UAE.
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