Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A rare cause of Leigh syndrome, associated with the TACO1 gene, leads to mitochondrial complex IV deficiency, a critical aspect in the disease’s development and progression.
Symptoms of TACO1 Gene Leigh Syndrome
Leigh syndrome due to the mitochondrial complex IV deficiency, particularly stemming from mutations in the TACO1 gene, presents a range of symptoms, which vary significantly from person to person. However, certain symptoms are commonly observed in affected individuals. These include:
- Psychomotor regression: A noticeable decline in abilities such as sitting, standing, and walking, which may have been acquired normally according to age-specific developmental milestones.
- Ataxia: The loss of full control of bodily movements, resulting in clumsy or uncoordinated motions.
- Brain lesions: Visible upon MRI scans, these lesions are particularly found in the basal ganglia and brainstem, which are areas responsible for controlling movement.
- Muscle weakness and hypotonia: A general lack of muscle tone and strength, making tasks requiring muscle power exceedingly difficult.
- Respiratory problems: Difficulties with breathing, which can range from rapid breathing (tachypnea) to irregular breathing patterns, often becoming a critical concern.
- Lactic acidosis: An increased level of lactic acid in the blood, which can lead to symptoms such as nausea, vomiting, severe fatigue, and muscle pain.
- Developmental delays: Affected individuals may experience significant delays in reaching developmental milestones.
It’s crucial to note that the manifestation and severity of these symptoms can vary widely among individuals with TACO1 gene Leigh syndrome. Early diagnosis and intervention are key in managing the symptoms and improving the quality of life for those affected.
Genetic Test for TACO1 Gene Leigh Syndrome
To confirm a diagnosis of Leigh syndrome due to the mitochondrial complex IV deficiency related to the TACO1 gene, a genetic test is essential. DNA Labs UAE offers a comprehensive genetic test designed to identify mutations in the TACO1 gene, providing crucial information for diagnosis and treatment planning.
This genetic test involves analyzing the patient’s DNA, extracted from a blood sample, to look for mutations in the TACO1 gene that are known to cause the condition. The test is highly accurate and can provide invaluable information for affected families.
The cost of the TACO1 Gene Leigh Syndrome due to the Mitochondrial Complex IV Deficiency Genetic Test is 4400 AED. For more information on the test and how to order it, please visit DNA Labs UAE.
Conclusion
Leigh syndrome due to TACO1 gene mutation is a rare but severe condition that requires prompt and accurate diagnosis for effective management. The genetic test available at DNA Labs UAE offers a critical tool in identifying the condition, allowing for early intervention and support for affected individuals and their families. With a detailed understanding of the symptoms and access to precise genetic testing, there is hope for improving the outcomes and quality of life for those diagnosed with this challenging condition.
