Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Among them, dystroglycanopathy, particularly the limb-girdle type C2 (LGMD2C), caused by mutations in the POMT2 gene, presents unique challenges and symptoms that significantly impact affected individuals’ quality of life. DNA Labs UAE offers comprehensive genetic testing for this condition, providing crucial information for families and individuals at risk.
Understanding POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2
The POMT2 gene is essential for the proper functioning of dystroglycan, a protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix. Mutations in the POMT2 gene disrupt this connection, leading to muscle fiber damage and the symptoms associated with LGMD2C. This form of muscular dystrophy is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Symptoms of POMT2 Gene Muscular Dystrophy
Symptoms of LGMD2C typically begin in childhood and may vary in severity. Early signs often include:
- Difficulty walking or running
- Frequent falls
- Trouble climbing stairs or getting up from a seated position
- Muscle pain and stiffness
- Progressive muscle weakness, particularly in the shoulders, arms, hips, and legs
- Eventually, this may lead to difficulty breathing and heart problems in some cases.
It’s crucial for individuals experiencing these symptoms to seek medical advice, as early diagnosis and intervention can help manage symptoms and improve quality of life.
Genetic Testing for LGMD2C at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test to identify mutations in the POMT2 gene associated with LGMD2C. This test is essential for confirming the diagnosis, understanding the risk of passing the condition to future generations, and making informed decisions about family planning. The process involves collecting a small sample of blood or saliva, which is then analyzed in our state-of-the-art laboratory.
Benefits of Genetic Testing
Genetic testing for LGMD2C offers several benefits, including:
- Confirmation of the diagnosis, which is crucial for effective management and treatment planning
- Information on the risk of passing the condition to future generations
- Insights into the progression of the disease, helping individuals and families prepare for future needs
- Enabling participation in clinical trials and access to emerging therapies
Test Cost
The cost of the POMT2 gene muscular dystrophy-dystroglycanopathy limb-girdle type C2 genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of the information it provides cannot be overstated for affected individuals and their families.
Conclusion
Understanding the symptoms and genetic basis of LGMD2C is crucial for early diagnosis, effective management, and improving the quality of life for those affected. DNA Labs UAE is committed to providing comprehensive and accurate genetic testing services, including for POMT2 gene muscular dystrophy-dystroglycanopathy limb-girdle type C2. For more information or to schedule a test, please visit our website.
