Hypophosphatemic rickets, particularly the autosomal recessive type 2, is a rare but significant condition that impacts the bones, leading to their softening and weakening. This condition is primarily caused by mutations in the ENPP1 gene. Understanding the symptoms and genetic underpinnings of this condition is crucial for timely diagnosis and management. DNA Labs UAE offers a comprehensive genetic testing service for this condition, aiding in the early detection and intervention for affected individuals.
Symptoms of ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2
The symptoms of ENPP1 gene hypophosphatemic rickets autosomal recessive type 2 are diverse and can significantly impact the quality of life of affected individuals. Early recognition of these symptoms is critical for prompt diagnosis and treatment. The symptoms include:
- Bone Pain and Tenderness: One of the earliest signs of the condition is a deep, aching bone pain, often accompanied by tenderness, particularly in the legs, pelvis, and spine.
- Muscle Weakness: Affected individuals may experience muscle weakness, which can lead to difficulties in walking and a waddling gait.
- Dental Problems: Dental anomalies, including delayed tooth eruption, tooth abscesses, and defective tooth enamel, are common in individuals with this condition.
- Deformities: Bone deformities, such as bowed legs or knock knees, can develop as a result of weakened bones.
- Short Stature: Delayed growth and short stature are frequently observed in children with this type of rickets.
- Fractures: An increased susceptibility to bone fractures, even with minor or no trauma, is a hallmark of the condition.
- Craniostenosis: Premature fusion of skull bones, leading to an abnormal head shape, can occur in some cases.
Genetic Testing for ENPP1 Gene Hypophosphatemic Rickets
Genetic testing plays a pivotal role in the diagnosis of ENPP1 gene hypophosphatemic rickets autosomal recessive type 2. DNA Labs UAE offers a specialized genetic test for this condition, providing a definitive diagnosis and facilitating early intervention. The test involves analyzing the DNA for mutations in the ENPP1 gene, which are responsible for the condition. A positive test result confirms the diagnosis and helps in the planning of an appropriate treatment and management strategy.
Test Cost
The cost of the ENPP1 gene hypophosphatemic rickets autosomal recessive type 2 genetic test at DNA Labs UAE is 4400 AED. This cost includes the genetic testing procedure, analysis, and comprehensive report detailing the findings. Considering the complexity and the benefits of the test, this is a valuable investment in the health and well-being of individuals suspected of having this condition.
Conclusion
ENPP1 gene hypophosphatemic rickets autosomal recessive type 2 is a condition that, though rare, can have profound effects on the lives of those affected. Early diagnosis and intervention are crucial to managing the symptoms and improving the quality of life. DNA Labs UAE’s genetic testing service for this condition is a critical tool in achieving this goal. For more information and to schedule a test, please visit DNA Labs UAE.
