Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders characterized by progressive muscle weakness and atrophy, primarily affecting the shoulder and pelvic girdles. Among the various subtypes, LGMD autosomal recessive type 2A, caused by mutations in the CAPN3 gene, is one of the most common. The CAPN3 gene provides instructions for producing a protein called calpain-3, which plays a crucial role in muscle function and repair. Mutations in the CAPN3 gene disrupt these processes, leading to the symptoms associated with the condition.
Recognizing the symptoms of LGMD type 2A is vital for early diagnosis and management. Common symptoms include muscle weakness that begins in the hips and shoulders, making it difficult to run, climb stairs, or lift objects. As the condition progresses, individuals may experience difficulty standing from a sitting position and may eventually require wheelchair assistance. Muscle wasting, particularly in the limbs, and joint stiffness are also common. In some cases, heart and respiratory muscles can be affected, necessitating regular cardiac and respiratory assessments.
Genetic testing plays a pivotal role in diagnosing LGMD type 2A. The CAPN3 gene limb-girdle muscular dystrophy autosomal recessive type 2A genetic test specifically identifies mutations in the CAPN3 gene, confirming the diagnosis and facilitating family planning and genetic counseling. DNA Labs UAE offers this comprehensive genetic test, providing crucial information for individuals and families affected by this condition.
The cost of the CAPN3 gene limb-girdle muscular dystrophy autosomal recessive type 2A genetic test at DNA Labs UAE is 4400 AED. This investment covers the genetic analysis necessary to identify the presence of CAPN3 mutations. Given the complex nature of genetic testing and the specific expertise required, the cost reflects the value of obtaining a definitive diagnosis and the subsequent personalized care plan.
For more information about the CAPN3 gene limb-girdle muscular dystrophy autosomal recessive type 2A genetic test, including how to arrange for testing, please visit DNA Labs UAE. This link provides detailed information about the test, the process involved, and how to contact DNA Labs UAE for consultation and support.
Early diagnosis through genetic testing is crucial for managing limb-girdle muscular dystrophy type 2A effectively. It not only confirms the specific type of LGMD but also guides treatment and management strategies, helping individuals and their families navigate the challenges associated with the condition. DNA Labs UAE is committed to providing accurate, comprehensive genetic testing services to support those affected by LGMD type 2A and other genetic conditions.
