Symptoms and Testing information for NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency Genetic Test

Symptoms and Testing information for NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency Genetic Test

Leigh syndrome due to mitochondrial complex I deficiency is a severe neurological disorder that manifests early in life. This condition, often attributed to mutations in the NDUFA12 gene, leads to a spectrum of symptoms affecting the central nervous system and, more broadly, the body’s energy production capabilities. DNA Labs UAE offers a comprehensive genetic test for diagnosing this condition, providing crucial information for affected families. The cost of this genetic test is 4400 AED.

Understanding Leigh Syndrome due to Mitochondrial Complex I Deficiency

Leigh syndrome is a progressive neurodegenerative disorder that typically emerges in infancy or early childhood. The condition is characterized by the degeneration of the central nervous system, which includes the brain, spinal cord, and optic nerves. Mitochondrial complex I deficiency, one of the biochemical hallmarks of Leigh syndrome, results from mutations in genes like NDUFA12, which play critical roles in the mitochondrial respiratory chain. This chain is essential for energy production in cells, and its dysfunction leads to the symptoms observed in Leigh syndrome.

Symptoms of NDUFA12 Gene Leigh Syndrome

The symptoms of Leigh syndrome due to NDUFA12 gene mutation can vary widely among affected individuals but generally include a combination of neurological and muscular manifestations. These symptoms reflect the underlying energy production issues caused by mitochondrial dysfunction.

  • Neurological Impairments: These can range from developmental delays, ataxia (lack of muscle coordination), and hypotonia (reduced muscle tone) to more severe manifestations such as seizures and peripheral neuropathy (damage to peripheral nerves).
  • Respiratory Difficulties: Many individuals experience breathing problems, which can be life-threatening in some cases. These difficulties are often exacerbated by infections or physical exertion.
  • Lactic Acidosis: An accumulation of lactic acid in the body, leading to symptoms such as nausea, vomiting, abdominal pain, and rapid breathing.
  • Cardiomyopathy: Some patients may develop heart muscle abnormalities, affecting the heart’s ability to pump blood efficiently.
  • Visual and Hearing Impairments: Optic atrophy leading to vision loss and sensorineural hearing loss are also common among those with Leigh syndrome.

Genetic Testing for NDUFA12 Gene Leigh Syndrome

DNA Labs UAE offers a specialized genetic test designed to identify mutations in the NDUFA12 gene, which can confirm a diagnosis of Leigh syndrome due to mitochondrial complex I deficiency. The test involves analyzing the patient’s DNA, extracted from a blood sample, to look for specific genetic changes known to be associated with the condition. The cost of this genetic test is 4400 AED.

Early diagnosis through genetic testing is crucial for managing Leigh syndrome. While there is currently no cure for the condition, early intervention and supportive treatments can help manage symptoms and improve the quality of life for those affected. Treatments may include medications to manage lactic acidosis, physical therapy to support mobility and muscle strength, and nutritional support to ensure adequate energy supply to the body’s cells.

Conclusion

Leigh syndrome due to mitochondrial complex I deficiency represents a challenging diagnosis for families, given its severe symptoms and progressive nature. However, genetic testing, such as the NDUFA12 gene test offered by DNA Labs UAE, provides a vital tool for confirming the diagnosis and facilitating early intervention strategies. For more information about this genetic test and to schedule an appointment, please visit DNA Labs UAE.

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