Cardiomyopathy dilated with ataxia (DCMA) is a rare genetic disorder that is primarily caused by mutations in the DNAJC19 gene. This condition is characterized by a combination of heart muscle disease (cardiomyopathy) that often leads to heart failure and problems with movement coordination (ataxia). Understanding the symptoms and getting an accurate diagnosis through genetic testing is crucial for managing the condition and improving the quality of life for affected individuals. DNA Labs UAE offers a comprehensive genetic test for the DNAJC19 gene mutation, providing a crucial tool for diagnosis and familial screening.
Symptoms of DNAJC19 Gene Cardiomyopathy Dilated with Ataxia
The symptoms of this condition can vary widely among affected individuals but generally include the following:
- Cardiac Symptoms: Individuals with DCMA often experience symptoms related to dilated cardiomyopathy, such as fatigue, shortness of breath, irregular heartbeats, and swelling in the legs and ankles due to heart failure.
- Neurological Symptoms: Movement coordination problems or ataxia is another hallmark of this condition. This can manifest as difficulty walking, unsteadiness, and a lack of coordination.
- Additional Symptoms: Other possible symptoms include growth retardation, developmental delays, and in some cases, visual impairment and hearing loss.
It’s important to note that the severity and combination of these symptoms can vary, making early and accurate diagnosis through genetic testing crucial.
Genetic Test for DNAJC19 Gene Mutation
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the DNAJC19 gene, which is the primary cause of cardiomyopathy dilated with ataxia. This test is an important step in the diagnosis of DCMA, enabling targeted treatment and management strategies to be implemented as early as possible. Furthermore, this test can be used for familial screening, providing valuable information for family members who may be at risk.
Cost of the Genetic Test
The cost of the genetic test for the DNAJC19 gene mutation at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of an accurate diagnosis cannot be understated. Early detection and management of the condition can significantly improve the quality of life for affected individuals and provide critical information for family planning decisions.
Conclusion
Cardiomyopathy dilated with ataxia due to DNAJC19 gene mutations is a rare but serious genetic disorder that requires prompt and accurate diagnosis. The symptoms of DCMA, including heart-related issues and movement coordination problems, highlight the need for specialized genetic testing. DNA Labs UAE offers a comprehensive genetic test for the DNAJC19 gene mutation, providing a crucial tool for individuals and families affected by this condition. For more information and to schedule a test, please visit DNA Labs UAE.
