Sandhoff disease is a rare, inherited disorder that falls under the category of lysosomal storage diseases. It is characterized by the progressive deterioration of nerve cells in the brain and spinal cord. The disease is caused by mutations in the HEXB gene, which leads to the deficiency of the enzymes beta-hexosaminidase A and beta-hexosaminidase B. These enzymes play a crucial role in the breakdown of certain fatty substances within the body. Without them, these substances accumulate to harmful levels, particularly in the nervous system, leading to the symptoms associated with Sandhoff disease.
Symptoms of Sandhoff Disease
The symptoms of Sandhoff disease usually manifest in infancy, although juvenile and adult-onset forms of the disease do exist. The progression and severity of symptoms can vary, but they often include:
- Muscle weakness and decreased muscle tone
- Exaggerated startle response
- Motor skills regression
- Cherry-red spots in the eyes
- Frequent respiratory infections
- Seizures
- Hearing loss and vision impairment
- Intellectual disability
- Difficulty swallowing and feeding problems
As the disease progresses, symptoms typically worsen, leading to an increased need for medical and supportive care.
Diagnosing Sandhoff Disease
Early diagnosis of Sandhoff disease is crucial for managing symptoms and improving the quality of life for affected individuals. Diagnosis typically involves a combination of clinical evaluation, family medical history, and genetic testing for mutations in the HEXB gene. The HEXB Gene Sandhoff Disease Genetic Test is a comprehensive test that can confirm the presence of the disease-causing mutations in the HEXB gene.
HEXB Gene Sandhoff Disease Genetic Test
The HEXB Gene Sandhoff Disease Genetic Test is a vital tool for families seeking answers about this rare genetic disorder. By identifying specific mutations in the HEXB gene, the test can confirm a diagnosis of Sandhoff disease and provide essential information for family planning and management of the disease. The test is performed using a blood sample and involves the analysis of the DNA to detect mutations in the HEXB gene.
Test Cost
The cost of the HEXB Gene Sandhoff Disease Genetic Test is 3200 AED. While the cost may seem significant, the information provided by the test is invaluable for affected families. It not only confirms the diagnosis but also helps in understanding the inheritance pattern, which is crucial for future family planning.
Conclusion
Sandhoff disease is a devastating condition that affects the lives of those diagnosed and their families. Early diagnosis through genetic testing, such as the HEXB Gene Sandhoff Disease Genetic Test, plays a crucial role in managing the disease and improving the quality of life for affected individuals. For more information about the test and how to proceed with testing, please visit DNA Labs UAE.
