Symptoms of ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy
Leigh syndrome, also known as Subacute Necrotizing Encephalomyelopathy, is a severe neurological disorder that typically arises in the first year of life. This condition, which can be caused by mutations in the ACAD9 gene among others, leads to progressive loss of mental and movement abilities, ultimately resulting in severe neurological impairment. Mitochondrial encephalopathy, on the other hand, encompasses a range of disorders caused by dysfunction of the mitochondria and can present with symptoms similar to Leigh syndrome.
Individuals with mutations in the ACAD9 gene might exhibit a variety of symptoms, which can vary significantly in their presence and severity among affected individuals. The most common symptoms associated with Leigh syndrome and mitochondrial encephalopathy due to ACAD9 gene mutations include:
- Progressive neurological decline
- Muscle weakness and hypotonia (reduced muscle tone)
- Developmental delay or regression
- Ataxia (lack of muscle coordination affecting speech, eye movements, and swallowing)
- Seizures
- Respiratory problems
- Lactic acidosis (buildup of lactic acid in the body)
- Heart problems, including cardiomyopathy
- Visual disturbances and optic atrophy
Due to the progressive nature of these conditions, early diagnosis is critical for managing symptoms and improving quality of life. Genetic testing for mutations in the ACAD9 gene can provide a definitive diagnosis, helping to guide treatment and management strategies for affected individuals and their families.
ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test
At DNA Labs UAE, we offer a comprehensive genetic test for the ACAD9 gene to identify mutations associated with Leigh syndrome and mitochondrial encephalopathy. This test is essential for families with a history of these conditions or for individuals presenting with symptoms consistent with these disorders. The genetic test involves analyzing the DNA to look for mutations in the ACAD9 gene that are known to cause these conditions. This can provide valuable information for diagnosis, treatment planning, and genetic counseling.
The cost of the ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test is 4400 AED. This investment in your health or the health of your loved one can provide crucial insights into the condition, guiding medical care and management to improve outcomes and quality of life.
For more information about the ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test, or to schedule a test, please visit our website:
DNA Labs UAE – ACAD9 Gene Test
At DNA Labs UAE, we are committed to providing accurate, confidential, and timely genetic testing services. Our team of experts uses the latest technology and follows strict quality control measures to ensure the reliability of our test results. If you have any questions or need further assistance, our customer service team is here to help.
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