Friedreich ataxia (FRDA) is a rare, inherited disease that causes progressive damage to the nervous system. It manifests in symptoms ranging from gait disturbance and speech problems to heart disease. The condition is named after the physician Nicholaus Friedreich, who first described the syndrome in the 1860s. It’s caused by a defect in the FXN gene, which leads to insufficient production of frataxin, a protein vital for the functioning of nerve and muscle tissues, as well as for the mitigation of oxidative stress within cells. Understanding the symptoms of Friedreich ataxia is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive FXN Gene Friedreich Ataxia Genetic Test, which is pivotal in confirming the diagnosis of this condition. The test is priced at 4400 AED. For more information, visit DNA Labs UAE.
Symptoms of Friedreich Ataxia
Friedreich ataxia is characterized by a wide range of symptoms, which typically begin in childhood and progressively worsen over time. The most common symptom is difficulty walking, or ataxia, which is due to the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Over time, individuals may become wheelchair-bound. Other symptoms include:
- Gait disturbance and loss of coordination (ataxia)
- Weakness and loss of sensation in the arms and legs
- Speech problems and difficulty swallowing
- Heart disease, including hypertrophic cardiomyopathy and arrhythmias
- Diabetes mellitus
- Vision impairment, including difficulty in adjusting from light to dark and vice versa
- Hearing loss
- Scoliosis (curvature of the spine) or other skeletal deformities
These symptoms result from the progressive loss of function and death of nerve cells in the spinal cord and peripheral nerves, as well as of cells in the cerebellum, which plays a key role in controlling balance and movement.
Importance of the FXN Gene Friedreich Ataxia Genetic Test
The FXN Gene Friedreich Ataxia Genetic Test is a critical tool in the diagnosis of Friedreich ataxia. This test specifically looks for mutations in the FXN gene, which are responsible for the majority of FRDA cases. The presence of these genetic mutations confirms the diagnosis, enabling early intervention and management of the condition. The test involves a simple blood draw, and it is both non-invasive and highly accurate.
Cost of the Test
The cost of the FXN Gene Friedreich Ataxia Genetic Test at DNA Labs UAE is 4400 AED. This price includes the full testing process, from sample collection to the provision of results. Given the complexity of the condition and the need for specialized analysis, the cost reflects the comprehensive nature of this genetic test.
Conclusion
Friedreich ataxia is a debilitating condition that requires early diagnosis for effective management and intervention. The FXN Gene Friedreich Ataxia Genetic Test offered by DNA Labs UAE is an essential tool in confirming the diagnosis of this genetic disorder. With a cost of 4400 AED, this test provides invaluable information for individuals and families affected by Friedreich ataxia, enabling them to make informed decisions about their health and management of the condition. For more details and to schedule a test, visit DNA Labs UAE.
