Limb-girdle muscular dystrophy (LGMD) is a term used for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The progression and symptoms of LGMD can vary significantly among individuals and subtypes. One such subtype is the Limb-girdle muscular dystrophy autosomal recessive type 2J (LGMDR2, formerly known as LGMD2J), which is caused by mutations in the TTN gene.
Symptoms of TTN Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2J
The symptoms of LGMDR2 due to TTN gene mutations can vary but often include muscle weakness that worsens over time. Initially, individuals may experience difficulty with tasks that require the use of the proximal muscles, such as climbing stairs, running, or getting up from a chair. As the condition progresses, individuals may need assistance with daily activities and, in some cases, may require wheelchair assistance. Other possible symptoms include:
- Muscle stiffness
- Difficulty lifting the arms
- Decreased mobility
- Respiratory difficulties
- Cardiac issues in some cases
It’s important to note that the severity and onset of symptoms can vary widely among affected individuals. Some may show symptoms in childhood, while others may not experience symptoms until adulthood.
Genetic Testing for TTN Gene Limb-girdle Muscular Dystrophy
Genetic testing is crucial for the accurate diagnosis of LGMDR2. The test specifically looks for mutations in the TTN gene that are known to cause the condition. Identifying the genetic mutation can help confirm the diagnosis, inform treatment decisions, and provide information for family planning. DNA Labs UAE offers a comprehensive TTN Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2J Genetic Test that is designed to detect these mutations.
Test Cost
The cost of the TTN Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2J Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of a definitive diagnosis cannot be understated. A confirmed diagnosis can lead to a better understanding of the condition, more targeted and effective treatment plans, and informed decisions about family planning.
Conclusion
Limb-girdle muscular dystrophy due to TTN gene mutations is a condition that requires early and accurate diagnosis for effective management. Symptoms can vary widely but typically include muscle weakness and decreased mobility. Genetic testing plays a crucial role in confirming the diagnosis, guiding treatment, and assisting with family planning. DNA Labs UAE offers a specialized genetic test for this condition, providing individuals and families with the answers they need. For more information on the test and to schedule an appointment, visit DNA Labs UAE.
