Short Description

Metachromatic leucodystrophy is a group of autosomal recessive disorders affecting mainly white matter of the brain, leading to accumulation of sulphatides in the nerve cells.

PreTest Information

Provide brief clinical history.

Detail Description

METACHROMATIC LEUCODYSTROPHY QUANTITATIVE BLOOD Test cost INR:3500 symptoms diagnosis

Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is caused by a deficiency in the enzyme arylsulfatase A (ASA), which leads to the accumulation of a fatty substance called sulfatide in the brain and nervous system. This accumulation causes damage to the myelin sheath that surrounds and protects nerve fibers, leading to problems with movement, cognition, and behavior.

Symptoms of Metachromatic Leukodystrophy

The symptoms of MLD can vary depending on the age of onset and the severity of the disease. In general, the symptoms of MLD can be grouped into three categories:

• Early onset: Symptoms appear within the first few months of life and may include delayed development, muscle stiffness, and seizures.
• Late infantile: Symptoms appear between 6 months and 2 years of age and may include difficulty walking, loss of muscle tone, and cognitive decline.
• Adult onset: Symptoms appear after adolescence and may include muscle weakness, cognitive decline, and behavioral changes.

Diagnosis of Metachromatic Leukodystrophy

Diagnosis of MLD typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A blood test can be used to measure levels of ASA, which is reduced in individuals with MLD. A quantitative blood test can be used to determine the severity of the disease and monitor disease progression.

Quantitative Blood Test Cost

The cost of a quantitative blood test for MLD in India is approximately INR 3500. This cost may vary depending on the location and laboratory performing the test.

Conclusion

Metachromatic leukodystrophy is a rare genetic disorder that can have devastating effects on the nervous system. Early diagnosis is critical for effective management and treatment of the disease. A quantitative blood test can provide valuable information about the severity of the disease and guide treatment decisions. If you or a loved one is experiencing symptoms of MLD, it is important to seek medical attention and discuss the possibility of testing with a healthcare provider.

At DNA Labs India, we offer a range of genetic testing services, including quantitative blood tests for MLD. Our team of experts is dedicated to providing accurate and timely results to help guide treatment decisions and improve patient outcomes. Contact us today to learn more about our services and how we can help you.

Metachromatic leucodystrophy is a group of autosomal recessive disorders affecting mainly white matter of the brain, leading to accumulation of sulphatides in the nerve cells.