Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder that primarily affects the bones. Individuals with this condition often experience bone pain, muscle weakness, and a waddling gait, among other symptoms. The disease is caused by mutations in the TGFB1 gene, which plays a crucial role in bone development and growth. Understanding the symptoms and genetic basis of Camurati-Engelmann Disease is essential for timely diagnosis and management. DNA Labs UAE offers a comprehensive TGFB1 Gene Camurati-Engelmann Disease Genetic Test, priced at 4400 AED, to assist in the diagnosis of this condition.
Symptoms of Camurati-Engelmann Disease
The symptoms of Camurati-Engelmann Disease can vary significantly among affected individuals, but there are several common signs to be aware of. These include:
- Bone pain and tenderness: This is often the first symptom and may be exacerbated by physical activity or pressure on the affected bones.
- Muscle weakness: Patients may experience difficulty in performing daily activities due to muscle weakness, particularly in the legs.
- Waddling gait: The skeletal abnormalities associated with CED can lead to a distinctive waddling walk.
- Increased bone density: Affected individuals may have bones that are denser and wider than normal, especially in the long bones of the arms and legs.
- Facial abnormalities: Some people with CED may have a square jaw, protruding forehead, or other facial differences.
- Delayed growth: Children with CED may experience slower growth rates, leading to short stature.
- Feeling excessively tired: Fatigue is a common complaint among those with Camurati-Engelmann Disease.
- Hearing loss: In some cases, the disease can lead to hearing difficulties due to stenosis (narrowing) of the auditory canal.
Genetic Testing for Camurati-Engelmann Disease
Genetic testing plays a pivotal role in the diagnosis of Camurati-Engelmann Disease. The TGFB1 Gene Camurati-Engelmann Disease Genetic Test offered by DNA Labs UAE is a targeted test designed to detect mutations in the TGFB1 gene that are associated with the condition. This test is crucial for confirming the diagnosis, especially in individuals who exhibit the symptoms described above. Furthermore, genetic testing can provide valuable information for family planning and the assessment of risk in family members.
Test Cost and Procedure
The cost of the TGFB1 Gene Camurati-Engelmann Disease Genetic Test at DNA Labs UAE is 4400 AED. The testing process is straightforward and involves collecting a small sample of blood or saliva from the patient. This sample is then analyzed in the laboratory to detect the presence of specific mutations in the TGFB1 gene. Results are typically available within a few weeks and are reviewed with the patient by a healthcare provider, who can discuss the implications and recommend appropriate management strategies.
Conclusion
Camurati-Engelmann Disease is a rare but impactful genetic disorder that affects individuals’ quality of life through its various symptoms and complications. Early diagnosis and management are essential for improving outcomes and alleviating symptoms. The TGFB1 Gene Camurati-Engelmann Disease Genetic Test offered by DNA Labs UAE is a valuable tool for individuals and families seeking answers about this condition. With a cost of 4400 AED, this test provides a pathway to understanding and managing Camurati-Engelmann Disease effectively.
For more information or to schedule a test, please visit DNA Labs UAE.
